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467 Sentences With "duplications"

How to use duplications in a sentence? Find typical usage patterns (collocations)/phrases/context for "duplications" and check conjugation/comparative form for "duplications". Mastering all the usages of "duplications" from sentence examples published by news publications.

A total of 143 precincts will be reviewed, removing duplications, it said.
In some cases, she said, they have saved money by eliminating duplications.
With duplications in insulin and blood pressure pills, severe side effects are common.
But duplications exist in the combined company's "organizational structure," Enbridge spokesman Todd Nogier said.
Those duplications probably took place right around the end of the last Ice Age.
Police lowered the death toll from 27 to 20, after discovering duplications in initial records.
He said officials were sifting through the list of missing persons for duplications and people who fled.
We're not doing crowd duplications and things like that, but sometimes we'd have to augment real environments.
While this doesn't officially break my rule about duplications, which I can discuss sometime, it seemed inelegant.
We are building intelligence and analytics to optimize spending with real time overcharge alerts and auto- detect duplications.
Late Monday, Wansink said that the study had been based on accidental data duplications in the original spreadsheet files.
Humpback whales also have duplications in genes that promote apoptosis, the process that commands mutated cells to commit suicide.
Times exists across, well, time and space in many revisions and duplications, making it a particular favorite of font sleuths.
How could their duplications of these articles, on their rinky-dink websites, upset the election of such a powerful country?
"If you get a mutation in one of those genes then you can get bizarre duplications," like two heads, Dr. Casal said.
There's so much money in the City of Gold, which makes it crucial to maximize your time (and duplications) in the City of Gold.
He'd also discovered that portions of some of his older papers had been republished elsewhere, he said, and had informed six journals of these duplications.
" He admitted that there were duplications, but believed them all to be justified, saying at one point that certain paragraphs were "important enough to be repeated.
The companies also plan to achieve about $975 million a year in cost savings by eliminating duplications and improving operations, the companies said in the statement.
Another community member, Spef, noticed something weird: if you deployed a rope, a tool to quickly climb around the game's environment, the glitch disappeared—no duplications.
He introduced division of labor in his studio, creating templates of common subjects and motifs, offering his works in fixed formats and working with variations and duplications.
Hyraxes and manatees have LIF duplicates, but the p53 duplicates appear only in living and extinct elephants, which suggests that the LIF duplications happened earlier in evolution.
On Saturday, Indonesia revised the number of people killed in last week's tsunami to 426 people from an earlier toll of 430, citing duplications in government recording.
Elephants, as well as close living relatives like manatees, have many duplications of a gene known as LIF -- but these copies don't actually work like the original.
The European Fund and Asset Management Association (EFAMA) said in its submission it wanted "regulatory stability" - while presenting 40 examples of "existing barriers, inconsistencies and duplications" that needed tackling.
In addition to the tax benefits, the companies expect to create $500 million in savings by eliminating duplications in the business and exploiting the scale with their buildings business.
"Some energy jobs may be at risk because such mergers and acquisitions yield duplications and redundancies," according to the government briefing note, seen by Reuters under freedom-of-information laws.
Under the so-called bilateral civil aviation safety agreement (BASA), the EU and China have agreed to reduce duplications in certification and evaluation activities, the EU said in a statement.
Gerardo Esquivel, the other incoming deputy finance minister, said that to find more efficient solutions to fight poverty and inequality, welfare programs would likely be combined or restructured to avoid duplications.
These seams are, after all, visible in the texts themselves — for example, in narrative duplications, beginning, famously, with the two contradictory versions of the creation story of Adam and Eve in Genesis.
The inquiry heard AMP and Clayton Utz exchanged some 700 emails during the law firm's investigation, but many of those were automated responses to meeting requests, duplications and progress updates, AMP's submission said.
Why it matters: In a news environment that's fast and precise, news by smart speaker still has several glitches that turn users off, such as a long listening times, poor audio quality and story duplications.
And when I was introduced to Korean skin care, it was through a brand called Missha whose products were considered duplications (or dupes in beauty parlance) of brands like SK-II but at a cheaper price point.
After doing them by hand for so long, I suddenly didn't have to reinvent every clue every time, didn't have to worry about blackening the wrong square, could check for duplications, could see fill options I never would have thought of.
"We finally figured out that it was an autosomal recessive condition where both bad duplications came from both parents, and those children were unfortunate to get the double dose, " Michael Ackerman, director of the Windland Smith Rice Sudden Death Genomics Laboratory, told CNN.
"We are demonstrating today that we can rely on our gene-banks and their safety duplications, despite adverse circumstances, so we can get one step closer to a food-secure world," Aly Abousabba, director general of ICARDA, said in the press release.
"We finally figured it out that it was an autosomal recessive condition where both bad duplications came from both parents, and those children were unfortunate to get the double dose," Michael Ackerman, director of the Windland Smith Rice Sudden Death Genomics Laboratory, told CNN.
Yet over the past year, Wansink and his "Food and Brand Lab" have come under fire from scientists and statisticians who've spotted all sorts of red flags — including data inconsistencies, mathematical impossibilities, errors, duplications, exaggerations, eyebrow-raising interpretations, and instances of self-plagiarism — in 50 of his studies.
Because the study focused on a tiny slice of the literature that allowed researchers to see immediate problems — duplications of western blots — the potential implications are distressing, said another author, Dr. Arturo Casadevall, chairman of the department of molecular microbiology and immunology at Johns Hopkins University's school of public health.
"A partnership that looks to maximize the synergies of the two networks, minimize duplications of capacity and investment on key routes, and use IAG's travel management capabilities to improve Norwegian's expertise in this area could all provide some of the benefits of consolidation without the likely high cost of a deal," they said.
It is not known whether the duplications of the subtelomeric regions arise from other chromosomes as with the pericentromeric regions. Interstitial region segmental duplications are distributed on the euchromatin between the pericentromeric and subtelomeric regions. They account for the most of the interchromosomal duplications. Interstitial duplications make up most of the largest and highest-identity human segmental duplications as compared to interchromosomal duplications.
Segmental duplications found in primate genomes fall under one of three classifications. These are the pericentromeric, subtelomeric, and interstitial regions. Segmental duplications in pericentromeric regions are unique in that around 30% of their sequence can be traced to duplications occurring from other chromosomes. The number of segmental duplications in pericentromeric regions is highly variable, having as few as zero.
From this, it has been observed that new-lineage segmental duplications map near shared ancestral duplications when comparing the human and chimpanzee. This is phenomenon known as duplication shadowing and it suggests that unique regions flanking duplications are about ten times as likely to become duplicated as other randomly duplicated regions. One distinguishing factor of primate genomes from other mammalian genomes is the abundance of interchromosomal and interspersed interchromosomal duplications. 48% of human duplications can be termed as interchromosomal, versus 13% in mice.
Gene duplications can also be identified through the use of next-generation sequencing platforms. The simplest means to identify duplications in genomic resequencing data is through the use of paired-end sequencing reads. Tandem duplications are indicated by sequencing read pairs which map in abnormal orientations. Through a combination of increased sequence coverage and abnormal mapping orientation, it is possible to identify duplications in genomic sequencing data.
Cataloging of segmental duplications was originally difficult due to its inconspicuousness, large size, and high degree of sequence similarity. This led to issues of interpreting separate loci as one sequence as these duplications are over-represented in unordered and unassigned contigs. Furthermore, these duplications are more prevalent within the pericentromeric and subtelomeric regions. BACs containing intrachromosomal duplications can be made and their duplication pattern can be characterized using FISH.
Segmental duplications are also often themselves variant in copy number.
Following formation of segmental duplications, forces of evolution such as base-pair substitutions, insertions, deletions, and retrotransposition are all possible. It has been suggested that segmental duplications undergo homology- driven mutations. There are two main homology-driven processes that lead to structural alterations. Homology between segmental duplications can initiate NAHR, which occurs from the alignment of highly similar segmental duplications that are followed by paralogous recombination, or through the non-reciprocal transfer of sequence from one segmental duplication copy to another.
No paralogs of C17orf53 exist. There also exist no gene duplications.
Most human segmental duplications are less than 300 kb in length, whereas research has begun to show that other primates, such as the chimpanzee, contain more duplications. There is a difference in copy number and content for about a third of the duplications with at least 94% shared identity. However, when the levels of segmental duplication in primates are compared with other mammals, we see that primates on average contain more than the rest of the mammalian world. Segmental duplications have been hypothesized to be evolutionarily significant.
Rather, it has been seen that segmental duplications which contain interstitial interchromosomal duplications are regions with the most enrichment of genes. Comparing the subtelomeric and pericentromeric regions, it is seen that the subtelomeric regions contains more gene content and transcriptional activity. Genes found within segmental duplications also share properties. Firstly, strong signatures of positive selection are common in segmentally duplicated genes.
The duplications of these highways were removed in 2003 and 2009, respectively.
Twenty-nine of the forty-three pericentromeric regions have some form of segmental duplication totaling 47.6Mb, which is almost a third of all segmental duplications found in the human genome. Segmental duplication in subtelomeric regions are similar to those pericentromeric in that they are enriched in interchromosomal segmental duplications. Thirty of the forty-two subtelomeric regions contain segmental duplications. However, these total only 2.6Mb.
A. pisum specific gene duplications of amino acid transporters highly expressed in bacteriocytes have been observed. These duplications are likely associated with the genetic establishment and maintenance of the endosymbiotic relationship. No lateral gene transfer has been detected between A. pisum and Buchnera.
Most studies to identify gene duplications require reciprocal-best-hits or fuzzy reciprocal-best-hits, where each paralog must be the other's single best match in a sequence comparison. Most gene duplications exist as low copy repeats (LCRs), rather highly repetitive sequences like transposable elements. They are mostly found in pericentronomic, subtelomeric and interstitial regions of a chromosome. Many LCRs, due to their size (>1Kb), similarity, and orientation, are highly susceptible to duplications and deletions.
Two studies show that AKT1 is involved in Juvenile Granulosa Cell tumors (JGCT). In-frame duplications in the pleckstrin-homology domain (PHD) of the protein were found in more than 60% of JGCTs occurring in girls under 15 years of age. The JGCTs without duplications carried point mutations affecting highly conserved residues. The mutated proteins carrying the duplications displayed a non-wild-type subcellular distribution, with a marked enrichment at the plasma membrane.
Paralogous genes often belong to the same species. They can shape the structure of whole genomes and thus explain genome evolution to a large extent. Examples include the Homeobox (Hox) genes in animals. These genes not only underwent gene duplications within chromosomes but also whole genome duplications.
Olduvai domains are one of the many genetic elements located in the 1q21.1 region, which has a high number of repeated elements and therefore a high tendency towards deletions and duplications. This has led to several conditions that involve this region being identified, including TAR syndrome and the more general classifications of 1q21.1 deletion syndrome and 1q21.1 duplication syndrome. Studies of deletions and duplications in the 1q21.1 region have consistently revealed microcephaly in association with deletions and macrocephaly in association with duplications.
Segmental duplications (SDs or LCRs) have had roles in creating new primate genes and shaping human genetic variation.
Array or DNA microarrays look at copy number changes (missing or extra genetic material). This testing looks across a large portion of the genome for larger deletions or duplications (also referred to as copy number variation). This technology can not detect single letter changes or very small deletions or duplications.
Paralogs can be identified in single genomes through a sequence comparison of all annotated gene models to one another. Such a comparison can be performed on translated amino acid sequences (e.g. BLASTp, tBLASTx) to identify ancient duplications or on DNA nucleotide sequences (e.g. BLASTn, megablast) to identify more recent duplications.
Low copy repeats (LCRs), also known as segmental duplications (SDs), are highly homologous sequence elements within the eukaryotic genome.
Unexpected ancient genome duplications have recently been confirmed in mustard weed/thale cress (Arabidopsis thaliana) and rice (Oryza sativa).
Chromosome analysis, also known as karyotyping refers to testing that assesses whether the expected number of chromosomes are present, whether there is any rearrangement of the chromosomes, and also whether there are any large deletions or duplications. This technology can not detect single letter changes (single nucleotide variants) or small deletions or duplications.
The mouse HoxA cluster shown here has 11 paralogous genes (2 are missing). Paralogous genes can shape the structure of whole genomes and thus explain genome evolution to a large extent. Examples include the Homeobox (Hox) genes in animals. These genes not only underwent gene duplications within chromosomes but also whole genome duplications.
They found that tandem duplications comprised 83% of the CNVs while 8.4% were triplications, 4.2% were adjacent duplications, 2.5% were insertional translocations, and 1.7% were other complex rearrangements. The copy number variants were predominantly tandem duplications which made it the most common type of copy number variant in the human genome according to the results of the study on this population. More was needed on the mechanistic side of the formation of structural variants. There was a study that focused on the mechanisms of very interesting and rare pathogenic copy number variants.
Comparison can be made between chromosomes that were positive by FISH and the chromosomal position using BLAST. Scientist have attempted to map the location of these segmental duplications, but they run into issues of accurate sequencing within these duplication regions. Because of this, scientists share the sentiment that accurate human genome assembly is difficult due to these segmental duplications.
Freeling M, Thomas BC. (2006). Gene-balanced duplications, like tetraploidy, provide predictable drive to increase morphological complexity. Genome Res. 16: 805-814.
Line 27 was cancelled due to duplications with Lines 16/316, 28/328 (later 28/728), 550 and 576 (later 30/330).
Tracking Arkansas Confederate infantry regiments can be extremely complicated due to the fact that numerical designations were often issued to multiple units. Some of these duplications were due to the competing authorities attempting to organize forces in the state. Other duplications were due to poor and or delayed communications between the various mustering agents, the Arkansas State Military Board, which was in charge of organizing forces within the state, and the Confederate War Department in Richmond. Additional duplications occurred when parts of various regiments were captured, only to be paroled, exchanged and returned to active status at some later point.
Secondly, it may also be possible that they have independently occurred within each ethnic group. Research has also found an increase of segmental duplications within regions of the CNPs showing that the duplications are responsible for the variation in copy number. Hypotheses have been made suggesting that many CNPs are only prevalent within the human genome because of the absence or presence of the evolutionarily recent segmental duplication events that have not quite become fixed within the human population. This shows that segmental duplications are responsible for defining locations of chromosomal rearrangement within the human genome.
Taken together, these two lines of evidence suggest that two genome duplications occurred in the ancestry of vertebrates, after it had diverged from the cephalochordate evolutionary lineage. Pattern predicted for the relative locations of paralogous genes from two genome duplications Controversy about the 2R hypothesis hinged on the nature of paralogy regions. It is not disputed that human chromosomes bear sets of genes related to sets of genes on other chromosomes; the controversy centres on whether they were generated by large-scale duplications that doubled all the genes at the same time, or whether a series of individual gene duplications occurred followed by chromosomal rearrangement to shuffle sets of genes together. Hughes and colleagues found that phylogenetic trees built from different gene families within paralogy regions had different shapes, suggesting that the gene families had different evolutionary histories.
Identifying this morphogen was the next crucial step. The first hypothesis came from Tickle et al. who showed that when retinoic acid is placed in the anterior margin of the limb bud, mirror image duplications result. However, concentrations of retinoic acid that cause mirror image duplications induce high levels of a downstream gene, retinoic acid receptor Beta, which is not seen in the posterior region.
A third unrelated male inherited a smaller 0.8-Mb duplication from his unaffected mother. Three additional individuals had de novo 4.5-Mb duplications, and 2 more had partially overlapping de novo 6.0- and 9.2-Mb duplications. Paternal origin of the duplication was demonstrated in all de novo female cases. Six affected females had selective inactivation of the normal X chromosome, whereas 3 had random X inactivation.
Additional classifications of paralogs include alloparalogs (out-paralogs) and symparalogs (in-paralogs). Alloparalogs are paralogs that evolved from gene duplications that preceded the given speciation event.
Along with gene conversion, it is believed to be the main driver for the generation of gene duplications and is a source of mutation in the genome.
The understanding that the observed changes in hybrids of the plant were caused by chromosome duplications (polyploidy) rather than gene mutation did not come until much later.
Structural variation, which can include insertions, deletions, duplications, and mutations in DNA. Within the human population, about 13% of the human genome is defined as structurally variant.
It is accepted that the three major animal ANTP-class clusters, Hox, ParaHox, and NK (MetaHox), are the result of segmental duplications. A first duplication created MetaHox and ProtoHox, the latter of which later duplicated into Hox and ParaHox. The clusters themselves were created by tandem duplications of a single ANTP-class homeobox gene. Gene duplication followed by neofunctionalization is responsible for the many homeobox genes found in eukaryotes.
Genetic testing methods such as fluorescence in situ hybridization (FISH) and chromosomal microarray are available for diagnosing Dup15q syndrome and similar genetic disorders. With the increase in genetic testing availability, more often duplications outside of the 15q11.2-13.1 region are being diagnosed. The global chromosome 15q11.2-13.1 duplication syndrome specific groups only provide medical information and research for chromosome 15q11.2-13.1 duplication syndrome and not the outlying 15q duplications.
In terms of medical management of the symptoms associated with Chromosome 15q11.2-q13.1 Duplication Syndrome, families should be aware that individuals with chromosome 15 duplications may tolerate medications differently and may be more sensitive to side effects for some classes of medications, such as the serotonin reuptake inhibitor type medications (SSRI).Schanen, C: Research update on chromosome 15 duplications – idic(15) and interstitial duplications: The duplication 15q syndrome. Presentation at 2005 International Conference on Isodicentric 15 and Related Disorders. Thus, these should be used with caution and any new medication should be instituted in a controlled setting, with slow titration of levels and with a clear endpoint as to what the expected outcome for treatment is.
Line 65 was cancelled west of Soto Street due to duplications with Montebello Transit line 50 in June 2007; the remainder of the route has been renumbered Line 665.
Gene families arose from multiple duplications of an ancestral gene, followed by mutation and divergence. Duplications can occur within a lineage (e.g., humans might have two copies of a gene that is found only once in chimpanzees) or they are the result of speciation. For example, a single gene in the ancestor of humans and chimpanzees now occurs in both species and can be thought of as having been 'duplicated' via speciation.
Comparisons of genomes demonstrate that gene duplications are common in most species investigated. This is indicated by variable copy numbers (copy number variation) in the genome of humans or fruit flies. However, it has been difficult to measure the rate at which such duplications occur. Recent studies yielded a first direct estimate of the genome-wide rate of gene duplication in C. elegans, the first multicellular eukaryote for which such as estimate became available.
Because GABA is the principal inhibitory neurotransmitter of the human brain, it is likely that duplications of these GABAA receptor genes affect or disrupt inhibitory neural transmission in Dup15q syndrome.
Briggs taught in Easton, Maryland from 1862 to 1869.Charles Sumner School Museum & Archives. Martha Bailey Briggs File. Undated newspaper duplications likely to be from the Afro American (Baltimore) circa 1934.
SHFM3 is unique in that it is caused by submicroscopic tandem chromosome duplications of FBXW4/DACTYLIN. SHFM3 is considered 'isolated' ectrodactyly and does not show a mutation of the tp63 gene.
Therefore, these two gene duplications predated this fundamental split in the eukaryote lineage. The SmB/SmN paralog pair is seen only in the placental mammals, which dates this LSm gene duplication.
Line 85 was cancelled south of Glassell Park due to duplications with Lines 83 and 84 (later 28) in December 2006; the remainder of the route has been renumbered Line 685.
Gottlieb's second to last paper studied PGI duplications in other genera of the Onagraceae. From this work Gottlieb and Ford found that their PGI results supported work based on chloroplast genes and nuclear ITS sequences, and that cytosolic PGI genes showed a greater rate of divergence than that based on chloroplast genes, and therefore supplied more information. Further, they found that the PGI gene duplications of PGI1 and PGI2 occurred well before the "radiation of extant species" of Clarkia.
When looking at the Yq11.23/Yq12 region, many segmental duplications can be found on both the human and chimpanzee chromosomes with the exception of a couple giving a 93% matching rate. However, orthologous sequences were unable to be detected for the Yq12/PAR2 transition region. It has been shown that segmental duplications from the Yq11.1/Yq11.21, Yq11.23/Yq12, and Yq12/PAR2 transition regions shows a predisposition to accumulate in the pericentromeric regions of both the human and chimpanzee genome.
PLOS One. Retrieved 4 January 2017. It is the most common genetic cause of autism, accounting for approximately 1-3% of cases.Cook Jr, Edwin H., et al. "Autism or atypical autism in maternally but not paternally derived proximal 15q duplication." American journal of human genetics 60.4 (1997): 928. Dup15q syndrome includes both interstitial duplications and isodicentric duplications (i.e., Idic15) of 15q11.2-13.1. Important genes likely involved in the etiology of Dup15q syndrome include UBE3A, GABRA5, GABRB3, and GABRG3.
Long sequencing reads are especially useful for analyzing duplications or amplifications, as it is possible to analyze the orientation of the amplified segments if they are captured in a single sequencing read.
This leads to copy-number variation within a population. Duplications are a major source of raw material for evolving new genes. Other types of mutation occasionally create new genes from previously noncoding DNA.
Gene duplication (or chromosomal duplication or gene amplification) is a major mechanism through which new genetic material is generated during molecular evolution. It can be defined as any duplication of a region of DNA that contains a gene. Gene duplications can arise as products of several types of errors in DNA replication and repair machinery as well as through fortuitous capture by selfish genetic elements. Common sources of gene duplications include ectopic recombination, retrotransposition event, aneuploidy, polyploidy, and replication slippage.
This was suggested to be inconsistent with the 2R hypothesis. However, other researchers have argued that such 'topology tests' do not test 2R rigorously, because recombination could have occurred between the closely related chromosomes generated by polyploidy, because inappropriate genes had been compared and because different predictions are made if genome duplication occurred through hybridisation between species. In addition, several researchers were able to date duplications of gene families within paralogy regions consistently to the early evolution of vertebrates, after divergence from amphioxus, consistent with the 2R hypothesis. When complete genome sequences became available for vertebrates, Ciona intestinalis and lancelets, it was found that much of the human genome was arranged in paralogy regions that could be traced to large-scale duplications, and that these duplications occurred after vertebrates had diverged from tunicates and lancelets.
It aims to link the Elector's Photo Identity Card (EPIC) with the Aadhaar number of the registered voter. It aims to create an error-free voter identification system in India, especially by removing duplications.
Built specifically for or in Austria-Hungary, whose designation system was based on the German one, but with duplications for unrelated designs. German designs used by Austria-Hungary and Germany are in German section.
The modern, ten-paralogue sodium gene complement of mammals is thought to have arisen from a series of parallel and nested duplications involving two of the four paralogues present in the ancestor of all tetrapods.
Deletion/duplication testing is a type of testing designed to detect larger areas of the genetic code that are missing or extra. This technology does not detect single letter variants or very small deletions or duplications.
There are a variety of approaches to identifying large-scale genomic variations (such as indels, duplications, inversions, translocations) between genomes. Other categories of methods include using microarrays, pulsed-field gel electrophoresis, cytogenetics and paired-end tags.
Makes it possible for homologous recombination to occur easily between different alleles. The repetitiveness of it, and the other members of the NBPF gene family is thought to have arisen from segmental duplications on chromosome 1.
Similarly, children with Angelman syndrome with deletions of the same GABAA receptor subunit genes feature diminished beta amplitude. Thus, beta waves are likely biomarkers of GABAergic dysfunction, especially in neurodevelopmental disorders caused by 15q deletions/duplications.
This allows the pharmacist to look for any duplications or dangerous drug interactions. This service can be especially valuable for people who are older, have several chronic conditions, take multiple medications, or are seen by multiple doctors.
Breakpoints could be identified in 8 individuals. The recurrent duplication was flanked distally by a segmental duplication (D-REP at 47.8-48.2 Mb) containing a cluster of genes and pseudogenes of the synovial sarcoma X breakpoint (SSX) and proximally by a complex repeat (P-REP at 52.1-53.1 Mb) rich in SSX, melanoma antigen and X antigen (XAGE) genes. Sequence analysis of the junctions demonstrated that the recurrent 4.5-Mb duplications were mediated by non-allelic homologous recombination (NAHR) or Alu-mediated recombination. The majority of these recombinations occurred between flanking complex segmental duplications.
SLIT-ROBO Rho GTPase activating protein 2C is a protein in humans that is encoded by the SRGAP2C gene. Cortical development gene Slit-Robo Rho GTPase- activating protein 2 (SRGAP2) has been highly conserved over mammalian evolution, and human is the only lineage wherein gene duplications have occurred (three times). The promoter and first nine exons of SRGAP2 duplicated from 1q23.1 (SRGAP2A) to 1q21.1 (SRGAP2B) ∼3.4 million years ago (mya). Two larger duplications later copied SRGAP2B to chromosome 1p12 (SRGAP2C) and to proximal 1q21.1 (SRGAP2D) ∼2.4 and ∼1 mya, respectively.
Segmental duplication are blocks of DNA ranging from 1 to 400 kb in length which recur at multiple sites within the genome, sharing greater than 90% similarity. Multiple studies have found a correlation between the location of segmental duplications and regions of chromosomal instability. This correlation suggests that they may be mediators of some genomic disorders. Segmental duplications are shown to be flanked on both sides by large homologous repeats, which exposes the region to recurrent rearrangement by nonallelic homologous recombination, leading to either deletion, duplication, or inversion of the original sequence.
It discontinued the use of vesicular film for duplications, due to the poor quality film available from distributors. It claims to use Kodak BrownToner, a polysulfide film treatment, on every reel of silver-halide microfilm that they produce.
Deletions, duplications and translocations can produce a polycentric chromosome. This is troublesome for cells that divide often since at the time of anaphase the polycentric chromosome does not move to opposite poles of spindle fiber and the cell dies.
Note that it is not identical with Jiu Manzhou Dang since duplications of original archives were eliminated from Manwen Laodang. Some old archives written in Standard Manchu are reduced to Old Manchu but the rest is kept in the original language.
The majority of 22q11 duplications are inherited often from a parent with a normal or near-normal phenotype. This is in sharp distinction to 22q11 deletion syndrome where about 90% of cases are caused by mutations that occur de novo.
Naming of locations often related to prominent local families, financiers in some cases, and frequently utilized nearby geographic features. With the inception of Rural Free Delivery of the U.S. Mail, some names were changed to avoid confusion from duplications and similarities.
Single-base-pair substitutions account for about half as much genetic change as does gene duplication. Typical human and chimp homologs of proteins differ in only an average of two amino acids. About 30 percent of all human proteins are identical in sequence to the corresponding chimp protein. As mentioned above, gene duplications are a major source of differences between human and chimp genetic material, with about 2.7 percent of the genome now representing differences having been produced by gene duplications or deletions during approximately 6 million years since humans and chimps diverged from their common evolutionary ancestor.
Subsequently, the duplications can also lead to the presence of a range of anomalies including dorsal enteric fistulas, enteric cysts, spina bifida, malformed or duplicated colon, bladder, sacrum, and lower spinal cord. Moreover, a midline pelvic mass defect during gestation could be an obstacle to caudal migration of paramesonephric structures (Müllerian duct), which could lead to duplication of the genital tract. Whilst failures of migration or fusion of those structures is one of the more prevalent embryological theories for duplication of lower genitourinary organs such as the bladder. Intestinal duplications extending into the rectum or anus is often rare.
By 1900 some sections of the single- track railway network in New South Wales were operating at or near saturation. These included The Great Zig Zag near , the Main West from Emu Plains to Bathurst, the Main South from Picton as far as Harden and the Main North between Maitland and Muswellbrook. Also, the metropolitan railways were congested due to the combination of suburban and freight traffic. The solution was a series of deviations to ease the gradients, and double tracks (duplications) to increase traffic capacity. The programme of duplications and deviations began around 1910 and was largely completed by 1922.
The DNA sequence differences between humans and chimpanzees consist of about 35 million single-nucleotide changes, five million insertion/deletion events, and various chromosomal rearrangements. Typical human and chimp protein homologs differ in an average of only two amino acids. About 30% of all human proteins are identical in sequence to the corresponding chimp protein. Duplications of small parts of chromosomes have been the major source of differences between human and chimp genetic material; about 2.7% of the corresponding modern genomes represent differences, produced by gene duplications or deletions, since humans and chimps diverged from their common evolutionary ancestor.
Duplications of the Prader-Willi/Angelman syndrome region, also known as the imprinting region (15q11-13) that encompasses the GABRB3 gene are present in some patients diagnosed with Autism. These patients exhibit classic symptoms that are associated with the disorder. Duplications of the 15q11-13 region displayed in autistic patients are almost always of maternal origin (not paternal) and account for 1–2% of diagnosed autism disorder cases. This gene is also a candidate for autism because of the physiological response that benzodiazepine has on the GABA-A receptor, when used to treat seizures and anxiety disorders.
The copy number variants continued to be studied as several studies continued to reveal the depth of their presence and their significance. A study was conducted that questioned the role of the organization of copy number variants and wondered what type of duplications they are. It was known that copy number variation plays a big role in many human diseases but at the time large scale studies of these duplications had not been done. They decided to sequence 130 breakpoints from 112 individuals that contained 119 known CNVs by doing whole genome sequencing as well as next generation sequencing.
A number of pathogenic deletions and duplications involving Xp11.22 have been described in individuals with developmental delay, intellectual disability and/or autism. These phenotypes have been attributed to changes in the copy number of several genes including HUWE1, KDM5C, IQSEC2, TSPYL2, SHROOM4, PHF8 and FAM120C.
Moreover, it has been reported that between 12 and 17 KIR receptors have been identified. There was a single ancestral gene from which all extant KIR receptor genes arose via duplications, recombinations, and mutations, and all KIR receptors share more than 90% sequence identity.
José Santaemilia ed., Género (2003) p. 194 Terms of endearment often 'make use of internal rhyme...[with] still current forms such as lovey-dovey, which appeared in 1819, and honey bunny',Mark Steven Morton, The Lover's Tongue (2003) p. 50 or of other duplications.
This introduces appropriate model systems to recreate disease causing structural variants such as translocations, duplications, and inversions. The future advancement in technologies and large database efforts will help lead the way to better quality studies and a much better understanding of human genome structural variation.
Further, the duplicated genes were hypothesized to have arisen by translocations rather than by un-equal crossing over. Gottlieb applied gene duplications in determining the phylogeny of "Clarkia", because "Duplications originating by chromosomal rearrangements have a high probability of being unique. Thus species with the PGI duplication presumably descended from a single references ancestor and can now be grouped into a monophyletic assemblage..." He conducted biochemical studies of the cytosolic PGIs in Clarkia xantiana, and found that there was very little difference in PGI's produced by the duplicated genes. In this same review he reported on a "family" of duplicated genes in Stephanomeria exigua that controlled the production of ADH.
Ohno presented the first version of the 2R hypothesis as part of his larger argument for the general importance of gene duplication in evolution. Based on relative genome sizes and isozyme analysis, he suggested that ancestral fish or amphibians had undergone at least one and possibly more cases of "tetraploid evolution". He later added to this argument the evidence that most paralogous genes in vertebrates do not demonstrate genetic linkage. Ohno argued that linkage should be expected in the case of individual tandem duplications (in which a duplicate gene is added adjacent to the original gene on the same chromosome), but not in the case of chromosome duplications.
Segmental duplications are also important for their role in the evolution of new genes as it is one of the primary mechanisms by which new genes are created. The most common method by which segmental duplication operates in creating new genes is by duplication of the entire gene, whether it is in tandem or in an interspersed configuration. Using whole-genome shotgun sequencing, it has been found that gene density is the greatest factor in showing correlation with segmental duplication density. However, this does not mean that all segmental duplications are enriched for genes and that all duplication regions are sites for the formation of new genes.
With the exception of T2R1 (which lies on chromosome 5) all human bitter taste receptor genes can be found clustered on chromosome 7 and chromosome 12. Analyzing the relationships between bitter taste receptor genes show that the genes on the same chromosome are more closely related to each other than genes on different chromosomes. Furthermore, the genes on chromosome 12 have higher sequence similarity than the genes found on chromosome 7. This indicates that these genes evolved via tandem gene duplications and that chromosome 12, as a result of its higher sequence similarity between its genes, went through these tandem duplications more recently than the genes on chromosome 7.
Multiple lines of experimental evidence strongly suggest that twice in the lineage leading to the teleost fish the ancestral Chordate genome was duplicated."Analysis of lamprey and hagfish genes reveals a complex history of gene duplications during early vertebrate evolution." H. Excriva, et al., Mol. Biol. Evol.
Individual states and American agents in Europe and in the Caribbean also issued commissions. Taking duplications into account, various authorities issued more than 2,000 commissions. Lloyd's of London estimated that Yankee privateers captured 2,208 British ships, amounting to almost $66 million, a significant sum at the time.
The 2R hypothesis or Ohno's hypothesis, first proposed by Susumu Ohno in 1970,Ohno, Susumu (1970). Evolution by Gene Duplication. London: Allen and Unwin, . is a hypothesis that the genomes of the early vertebrate lineage underwent two complete genome duplications, and thus modern vertebrate genomes reflect paleopolyploidy.
Gene duplications are the main reason for the increase of genome size, and as unequal crossing over is the main mechanism for gene duplication, unequal crossing over contributes to genome size evolution is the most common regional duplication event that increases the size of the genome.
In genetics, a chromosomal rearrangement is a mutation that is a type of chromosome abnormality involving a change in the structure of the native chromosome.UniProt. Keyword Chromosomal rearrangement. Accessed 26 Dec 2012. Such changes may involve several different classes of events, like deletions, duplications, inversions, and translocations.
It is a Kodak ImageGuard facility. One of its specializations is damaged microfilm recovery. It has an Extek 3441 microfilm duplicator, which duplicates at low speeds to prevent damage to Redox or Vinegar-Syndrome microfilm. It uses Kodak silver halide microfilm for master film and primary duplications.
Mutations to homeobox genes can produce easily visible phenotypic changes in body segment identity, such as the Antennapedia and Bithorax mutant phenotypes in Drosophila. Duplication of homeobox genes can produce new body segments, and such duplications are likely to have been important in the evolution of segmented animals.
In teleost fish, SS1, SS2, and SS3 were duplicated during the third whole-genome duplication event (3R) to create SS1, SS2, SS4, SS5, and two genes that were lost during the evolution of teleost fish. SS1 and SS2 went through local duplications to give rise to SS6 and SS3.
Interstitial duplications of chromosome 15 can be more difficult to detect on a routine chromosome analysis but are clearly identifiable using a 15q FISH study. Families should always discuss the results of chromosome and FISH studies with a genetic counselor or other genetics professionals to ensure accurate interpretation.
The intervallic unit is a "large semitone", about 10% larger than the semitone of the equal-tempered twelve-tone system (). Beginning at 100 Hz, this scale reaches to ca. 17,200 Hz, with a total of 81 equally spaced pitches. Because of the chosen basic interval, no octave duplications can occur .
19, 1440-1450 (2002)"Genome duplication in the telesost fish Tetraodon nigroviridis reveals the early vertebrate proto- karyotype." O. Jaillon, et al., Nature 431, 946-957 (2004)"New evidence for genome-wide duplications at the origin of vertebrates using an amphioxus gene set and completed animal genomes." G. Panopoulou, et al.
The golden viscacha rat or golden vizcacha rat (Pipanacoctomys aureus) is the single species of the genus Pipanacoctomys of the rodent family Octodontidae. It has 92 chromosomes and has been regarded as tetraploid (4x = 2n).Gallardo, M. H. et al. (2004). Whole-genome duplications in South American desert rodents (Octodontidae) .
Structural variation includes copy-number variation and results from deletions, inversions, insertions and duplications. It is estimated that approximately 0.4 percent of the genomes of unrelated people differ, apart from copy number. When copy-number variation is included, human-to-human genetic variation is estimated to be at least 0.5 percent.
"A Brief History," Comic Book Fanthropology (Lulu.com, 2009), p. 31. The Alley Awards were tallied for comic books produced during the previous year. The Alley statuette was initially sculpted by Academy member Ron Foss out of redwood, from which "plaster duplications" were made to be handed out to the various winners.
Misexpression of genes, such as Goosecoid, may also result in conjoined twins. Goosecoid activates inhibitors of BMP4 and contributes to regulation of head development. Over or underexpression of this gene in laboratory animals results in severe malformations of the head region, including duplications, similar to some types of conjoined twins.
Unequal crossing over is the process most responsible for creating regional gene duplications in the genome. Repeated rounds of unequal crossing over cause the homogenization of the two sequences. With the increase in the duplicates, unequal crossing over can lead to dosage imbalance in the genome and can be highly deleterious.
The hook-up seems to have arisen, when an identical short sequence motif arose by chance at both flanks of the initial C4-CYP21 doublet. Since then, an occasional misalignment of the opposite flanks has led to an unequal crossing-over and so to duplications or deletion of the module.
Copy the second and all further elements in this column to the respective heads of the other eleven columns. Apply the ratios to make the second through the twelfth columns. So doing produces 144 frequencies (with some duplications). From each column five different selections of non-adjacent frequencies can be made.
Recurrent rearrangements are nucleotide sequence variations found in multiple individuals, sharing a common size and location of break points. Therefore, multiple patients may manifest with similar deletions or duplications, resulting in the description of genetic syndromes. Examples of these include NF1 microdeletion syndrome, 17q21.3 recurrent microdeletion syndrome or 3q29 microdeletion syndrome.
There is a good correlation between the genotype and phenotype. As a result, the CYP21A2 genotyping has high diagnostic value. However, the genotyping of the CYP21A2 gene is prone to errors, especially due to the closely located and highly homologous pseudogene CYP21A1P and the complex duplications, deletions and rearrangements within the chromosome 6p21.3.
An autosomal recessive form has been mapped to the chromosomal region where this gene is located, and complex rearrangements involving duplications of this gene and others have been associated with the condition. A pseudogene of this locus has been mapped to one of the introns of the BCR gene on chromosome 22.
Polyploidy is also a well known source of speciation, as offspring, which have different numbers of chromosomes compared to parent species, are often unable to interbreed with non-polyploid organisms. Whole genome duplications are thought to be less detrimental than aneuploidy as the relative dosage of individual genes should be the same.
ISFL may also acquire numerous copy-number variations (i.e. duplications and deletions of a portion of a chromosome along with any of the genes contained therein) that may contribute to FL. In all cases, the number of genetic abnormalities acquired in the B-cells of ISFL are much less than those in FL.
Remnants of L2 and L3 elements are found in the human genome. It is estimated that L2 and L3 elements were active ~200-300 million years ago. Unlike L1 elements, L2 elements lack flanking target site duplications. The L2 (and L3) elements are in the same group as the CR1 clade, Jockey.
The chimpanzee Y chromosome completely spans the orthologous part of the human region, and the human region is completely included in the orthologous chimpanzee region. The segmental duplications are primarily consistent between the two genomes with the exception of chromosomes 1, 11, and 14 unable to be located on the chimpanzee genome.
The locomotives carried the names of tribes, tribal leaders and warriors from around Australia. Within the WAGR, proposals were made to code the class as "T", and for the class to be known as the "Tribal class". This was not adopted. However, confusion at the time resulted in duplications and incorrect spellings.
PCL is caused by the development of an excessively high number of genetic abnormalities in plasma cells or, more particularly, their precursor B cells and plasmablasts (see plasma cells). This genetic instability is due to a myriad of acquired abnormalities including gene mutations; single nucleotide polymorphisms; depletions and duplications of parts of a gene, larger portion of a chromosome, or even an entire arm of a chromosome; translocations, deletions, and duplications of entire chromosomes; and increases and decreases in the expression of intact genes due to, e.g. the methylation of gene promotors and various less direct effects. These genetic abnormalities effect the Wnt signaling pathway, regulation of the cell cycle, RNA metabolism, protein folding, and cadherin-related cell adherence to extracellular matrix.
In addition, duplication after insertion contributes to NUMT diversity. NUMTs have no self-replicating mechanism or transposition mechanism; therefore, NUMT duplication is expected to occur in tandem or to involve larger segmental duplication at rates representative of the rest of the genome. Evidence for NUMT duplications that are not in proximity to other NUMTs is present in many genomes and probably happens as part of segmental duplication. However, duplications of recent human-specific NUMTs as part of segmental duplication seem to be rare; in humans, only a few NUMTs are found to have overlap with segmental duplication, and those NUMTs were found in only one of the copies while missing from the others, clearly demonstrating that the NUMTs were inserted subsequent to the duplication events.
The 'PHQ' stands for Postal Headquarters. All items published by the Post Office are given a number which is prefixed by letters. The first card issued, on 16 May 1973, was numbered PHQ1, and the numbering sequence has continued to the present day. There are however two gaps in the sequence, and two duplications.
BSEB introduced multiple steps to curb cheating in subsequent exams. Candidate's applications have been linked with Aadhaar number to prevent duplications. To prevent impersonation, photographs have been added at multiple locations, including the admit card. CrPC section 144 (curfew) would be imposed at all examination centres to refrain others from roaming around the examination centres.
Fornace, A. J., Jr, Cummings, D. E., Comeau, C. M., Kant, J. A., and Crabtree, G. R. Single-copy inverted repeats associated with regional genetic duplications in gamma fibrinogen and immunoglobulin genes. Science 224: 161-164, 1984. Fornace has more than 375 publications with over 34,000 citations in Web of Science (42,000 in Google Scholar).
Isodicentric duplications are typically partial tetrasomies (i.e., two extra copies of each gene) and feature an extranumerary chromosome that contains the extra genes. Many important genes in the 15q11.2-13.1 region likely play crucial roles in the etiology of Dup15q syndrome. UBE3A is the causative gene of Angelman syndrome and has been associated with autism.
However, the probability of duplication is influenced by the history of prior duplications, and not all edges get duplicated, only a randomly selected subset of them. Such a partial duplication model, can produce power-law distributions with exponents \gamma < 2 , consistent with the degree distribution of a number of biological networks, regardless of the starting graph..
Patients with mutations in SCN3A had oral-motor speech disorders. Birth/prenatal injuries, as well as stroke, can also be causes of DVD/CAS. Furthermore, DVD/CAS can occur as a secondary characteristic to a variety of other conditions. These include autism, some forms of epilepsy, fragile X syndrome, galactosemia and chromosome translocations involving duplications or deletions.
In order to determine whether osteogenesis imperfecta is present, genetic sequencing of the COL1A1, COL1A2, and IFITM5 genes may be done. Duplication and deletion testing is also suggested to parents who suspect their child has OI. The presence of frameshift mutations caused by duplications and deletions is generally the cause of increased severity within the disease.
Currently, the cost of international trade stands at approximately $2 trillion. This is due to a variety of factors including, redundant customs procedures, border fees and unnecessary duplications. The economic benefit of the Trade Facilitation Agreement is still yet to be completely felt and measured. However, estimates of the economic gains as a result of the agreement is widespread.
Hox cluster duplications and the opportunity for evolutionary novelties. PNAS 100:14603-14606. In recent years the Wagner lab has focussed on the evolution of gene regulatory networks, in particular the role of transcription factor protein evolution in evolutionary innovation.Lynch, V. J., A. Tanzer, Y. Wang, F. C. Leung, B. Gellersen, D. Emera, and G. P. Wagner. 2008.
The special effect of the talking head in a vase was created using multiple exposure, with the film stock was rewound in the camera and reexposed. Black cloth was used to mask the set when the head was filmed. Méliès performed a similar trick, with three duplications of his own head, in his film The Four Troublesome Heads.
Finding a specific genetic cause for gigantism has proven to be difficult. Gigantism is the primary example of growth hormone hyper-secretion disorders, a group of illnesses that are not yet deeply understood. Some common mutations have been associated with gigantism. Pediatric gigantism patients have shown to have duplications of genes on a specific chromosome, Xq26.
Nowadays, these duplications prefer to map to the pericentromeric regions in the modern human and chimpanzee. There has been a shift from the subtelomeric regions of the Old World monkeys to the pericentromeric regions of the modern primate. This evolutionary change coincides with the shortening of the subtelomeric regions as well as the development of higher-order alpha- satellites.
These would then be matched up against the original database so there aren't any duplications. Data feed files can also be used to collect data. In this scenario, a merchant would provide Moneysupermarket with information electronically in a set format. Like other comparison shopping websites, Moneysupermarket has previously used third-party affiliate networks to receive information and aggregate data.
The databases of IMEx work together to prevent duplications of effort, collecting data from non-overlapping sources and sharing the curated interaction data. The IMEx consortium also worked to develop the HUPO-PSI-MI XML format, which is now widely implemented. All of the information within DIP is freely available under a Creative Commons BY-ND 3.0 license.
Somatic mutations that alter insulated neighborhood anchors can contribute to tumorigenesis. Chromosomal alterations such as translocations, deletions and tandem duplications intersecting with insulated neighborhood anchor sites can activate oncogenes. Epigenetic dysregulation can also contribute to tumorigenesis by altering insulated neighborhoods. IDH-mutant gliomas display altered DNA methylation patterns, so CTCF binding, which is DNA methylation-dependent, is also altered.
Axel Meyer (born August 4, 1960) is an evolutionary biologist and a professor of zoology and evolutionary biology at the Universität Konstanz, Germany. Meyer is best known for his work on the evolution and adaptive radiation of African cichlid fishes, fish-specific genome duplications, molecular phylogenetics of vertebrates, and the role of ecological and sexual selection in speciation.
Vertebrates started off with a single copy of the vitellogenin gene, and the bird-mammalian and amphilian lineages each experienced duplications that gave rise to the modern genes. With the exception of monotremes, mammals have all their vitellogenin genes turned into pseudogenes, although the region syntenic to bird VIT1-VIT2-VIT3 can still be found and aligned.
Retrieved 5 March 2013Jones.The End of Roman Britain. p.71. - ..the repetitious entries for invading ships in the Chronicle (three ships of Hengest and Horsa; three ships of Aella; five ships of Cerdic and Cynric; two ships of Port; three ships of Stuf and Wihtgar), drawn from preliterate traditions including bogus eponyms and duplications, might be considered a poetic convention.
National Electoral Roll Purification and Authentication Programme (NERPAP) is voter registration project of the Election Commission of India. It will link the Elector's Photo Identity Card (EPIC) with the Aadhar number of the registered voter. It is aims to create an error-free voter identification system in India, especially by removing duplications. The project was launched on 3 March 2015.
Additionally, the Kaleidescape system only makes one copy to be stored within the system, and does not enable further duplications of that copy. He contrasted this with the capabilities of an equivalent system built on a personal computer, remarking that such a capability for collecting copies of DVDs had been around for years prior to the development of the Kaleidescape system.
Miniature Inverted-repeat Transposable Elements (MITEs) are a group of non- autonomous Class II transposable elements (DNA sequences). Being non- autonomous, MITEs cannot code for their own transposase. They exist within the genomes of animals, plants, fungi and bacteria. MITEs are generally short (50 to 500 bp) elements with terminal inverted repeats (TIRs; 10–15 bp) and two flanking target site duplications (TSDs).
Region of Xp11.2 duplications. Xp11.2 duplication is a genomic variation marked by the duplication of an X chromosome region on the short arm p at position 11.2, defined by standard karyotyping (G-banding). This gene-rich, rearrangement prone region can be further divided into three loci - Xp11.21, Xp11.22 and Xp11.23. The duplication could involve any combination of these three loci.
Mamavirus, like other mimiviridae, is icosahedral with a core capsid and a peripheral fiber layer. It contains a linear double-stranded DNA genome which has a very high coding density that is characteristic of NCLDVs. The mimiviridae contain very similar genomes due to gene duplications, and a fair piece of the genome is associated with functions not previously found in a virus.
Rare alterations in a chromosome can lead to the gain or a loss of a copy. A duplication occurs when a fragment of DNA is gained – during copying, or when genes are shuffled at conception. The same process can cause a deletion, where a fragment of DNA is lost. Deletions and duplications of greater than 1,000 nucleotides are called copy number variants (CNVs).
Whole genome duplications may be a leading cause of retention of some tumor causing genes in the human genome. For example, Strout et al. have shown that tandem duplication events, likely via homologous recombination, are linked to acute myeloid leukemia. The partial duplication of the ALL1 (MLL) gene is a genetic defect has been found in patients with acute myeloid leukemia.
It has been estimated there are ~200 genes involved in this syndrome; of these ~100 have been identified. Many of these genes are found on the short 'p' arm of the chromosome, and duplications at Xp11.2 are associated with the syndromic form of the condition. X-linked intellectual disability accounts for ~16% of all cases of intellectual disability in males.
The "Fish-Specific" Hox Cluster Duplication Is Coincident with the Origin of Teleosts. Mol Biol Evol 23:121-136. This work led to the theory that Hox cluster and genome duplications create a window of opportunity which, if coincidental with ecological changes, can lead to the fixation of these genes and novel gene functions.Wagner, G. P., C. Amemiya, and F. Ruddle. 2003.
A typical L1 element is approximately 6,000 base pairs (bp) long and consists of two non-overlapping open reading frames (ORF) which are flanked by untranslated regions (UTR) and target site duplications. In humans, ORF2 is thought to be translated by an unconventional termination/reinitiation mechanism, while mouse L1s contain an internal ribosome entry site (IRES) upstream of each ORF.
This mechanism is divided into three stages. The first stage is the insertion of introns at positions that correspond to the boundaries of a protein domain. The second stage is when the "protomodule" undergoes tandem duplications by recombination within the inserted introns. The third stage is when one or more protomodules are transferred to a different nonhomologous gene by intronic recombination.
Typically, these patients also experienced an onset of typical gigantism symptoms before reaching the age of 5. This indicates a possible linkage between gene duplications and the gigantism. Additionally, DNA mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene are common in gigantism patients. They have been found to be present in about 29 percent of patients with gigantism.
Both variants of ACA2 have the same two predicted target sites (U4263 and U4282) in 28S ribosomal RNA (rRNA). ACA34 is also predicted to target one of these sites (U4282) in addition to U4269 of 28S rRNA. The sequence similarity, genomic location and the predicted target sites of these three snoRNAs suggest they have been generated by subsequent gene duplications during evolution.
A large number of molecular alterations are under study for their prognostic impact in AML. However, only FLT3-ITD, NPM1, CEBPA and c-KIT are currently included in validated international risk stratification schema. These are expected to increase rapidly in the near future. FLT3 internal tandem duplications (ITDs) have been shown to confer a poorer prognosis in AML with normal cytogenetics.
Like the chimpanzee, changes were on the level of gene rearrangements rather than single mutations. Frequent insertions, deletions, changes in the order and number of genes, and segmental duplications near gaps, centromeres and telomeres occurred. So, macaque, chimpanzee, and human chromosomes are mosaics of each other. Some normal gene sequences in healthy macaques and chimpanzees cause profound disease in humans.
These genes in turn regulate segment polarity genes. Krüppel means "cripple" in German, named for the crippled appearance of mutant larvae, who have failed to develop proper thoracic and anterior segments in the abdominal region. Mutants can also have abdominal mirror duplications. Human homologs of Krüppel are collectively named Krüppel-like factors, a set of proteins well characterized for their role in carcinogenesis.
It fits a gene tree into the universal species tree and finds historical duplications, speciations and losses events. TreeFam uses this information to evaluate tree building, guide manual curation, and infer complex ortholog and paralog relations. The basic elements of TreeFam are gene families that can be divided into two parts: TreeFam-A and TreeFam-B families. TreeFam-B families are automatically created.
The beginning of the end came in 1920, when Boyce hired the first professional editor for The Lone Scout magazine, George N. Madison. Madison discovered LSA's membership roster was wildly inaccurate and was full of duplications and inactive members. The magazine switched from a weekly to a monthly. By 1922, Boyce's newspaper business was suffering and The Lone Scout was losing money.
Dup15q syndrome is caused by copy number variation (CNV) in which extra copies of certain genes are present in the genome. Two duplication types are commonly described in Dup15q syndrome, interstitial and isodicentric. Interstitial duplications are typically partial trisomies (i.e., one extra copy of each gene) and features these extra gene copies on the Chromosome 15 alongside the "original" copies.
ATS patients experience periodic paralysis, cardiac arrhythmias, and multiple morphological abnormalities that can include cleft or high arched palate, cleft or thin upper lip, flattened philtrum, micrognathia, dental oligodontia, enamel hypoplasia, delayed dentition eruption, malocclusion, broad forehead, wide set eyes, low set ears, syndactyly, clinodactyly, brachydactyly, and dysplastic kidneys. Mutations that disrupt another inwardly rectifying K+ channel Girk2 encoded by KCNJ6 cause Keppen-Lubinsky syndrome which includes microcephaly, a narrow nasal bridge, a high arched palate, and severe generalized lipodystrophy (failure to generate adipose tissue). KCNJ6 is in the Down syndrome critical region such that duplications that include this region lead to craniofacial and limb abnormalities and duplications that do not include this region do not lead to morphological symptoms of Down syndrome. Mutations in KCNH1, a voltage gated potassium channel lead to Temple-Baraitser (also known as Zimmermann- Laband) syndrome.
In contrast to expectations, genetic redundancy is not associated with gene duplications [Wagner, 2007], neither do redundant genes mutate faster than essential genes [Hurst 1999]. Therefore, genetic redundancy has classically aroused much debate in the context of evolutionary biology (Nowak et al., 1997; Kafri, Springer & Pilpel . 2009). From an evolutionary standpoint, genes with overlapping functions implies minimal, if any, selective pressures acting on these genes.
In-frame deletions or duplications have been identified in a few cases. The disease is transmitted as an autosomal-dominant trait, however, about 35% of index cases are sporadic. Sporadic forms mainly derive from de novo mutations; rare cases have been explained by germinal or somatic mosaicism. The incidence and the severity of the non-congenital manifestations of MYH9-RD correlate with the specific MYH9 mutation.
The root cause of AEXS is not entirely clear, but it has been elucidated that inheritable, autosomal dominant genetic mutations affecting CYP19A1, the gene which encodes aromatase, are involved in its etiology. Different mutations are associated with differential severity of symptoms, such as mild to severe gynecomastia. For example, duplications result in relatively mild gynecomastia, while deletions, resulting in chimeric genes, cause moderate or severe gynecomastia.
Multiplex ligation-dependent probe amplification (MLPA) is a variation of the multiplex polymerase chain reaction that permits amplification of multiple targets with only a single primer pair. It detects copy number changes at the molecular level, and software programs are used for analysis. Identification of deletions or duplications can indicate pathogenic mutations, thus MLPA is an important diagnostic tool used in clinical pathology laboratories worldwide.
This protein aids in copying the RNA transcripts of LINEs and SINEs back into DNA, and integrates them into different areas of the genome. This self-perpetuates the growth of LINE and SINE families. Due to the highly repetitive nature of these elements, LINEs and SINEs when close together also trigger unequal crossing over events which result in single-gene duplications and the formation of gene families.
The introns were not placed randomly; they fell in the center of the region of amino acid sequence homology in strikingly similar locations in 6 of the 10 units and in a symmetric position in each half of the coding sequence. From these observations, Altruda et al. (1988) concluded that the gene evolved through intron-mediated duplications of a primordial sequence to a 5-exon cluster.
On a normal karyotype, aneuploidy can be detected by clearly being able to observe any missing or extra chromosomes. Giemsa banding, g-banding, of the karyotype can be used to detect deletions, insertions, duplications, inversions, and translocations. G-banding will stain the chromosomes with light and dark bands unique to each chromosome. A FISH, fluorescent in situ hybridization, can be used to observe deletions, insertions, and translocations.
Somaclonal variation is not restricted to, but is particularly common in, plants regenerated from callus. The variations can be genotypic or phenotypic, which in the latter case can be either genetic or epigenetic in origin. Typical genetic alterations are: changes in chromosome numbers (polyploidy and aneuploidy), chromosome structure (translocations, deletions, insertions and duplications) and DNA sequence (base mutations). A typical epigenetics-related event would be gene methylation.
Although the USAF Wright Air Development Center was the key sponsor of the Republic Project 3347 turboprop fighter, the initial inception came from a U.S. Navy requirement for a carrier fighter not requiring catapult assistance.Keaveney 1987, p. 9. Originally known as XF-106 (a designation later reused for the Convair F-106),Heyman, Jos and Andreas Parsch. "Duplications in U.S. Military Aircraft Designation Series". designations-systems.
Replication slippage is an error in DNA replication that can produce duplications of short genetic sequences. During replication DNA polymerase begins to copy the DNA. At some point during the replication process, the polymerase dissociates from the DNA and replication stalls. When the polymerase reattaches to the DNA strand, it aligns the replicating strand to an incorrect position and incidentally copies the same section more than once.
There is a strong association between GABRB3 expression levels and proper palate development. A disturbance in GABRB3 expression can be lined to the malformation of nonsyndromic cleft lip with or without cleft palate. Cleft lip and palate have also been observed in children who have inverted duplications encompassing the GABRB3 locus. Knockout of the beta-3 subunit in mice results in clefting of the secondary palate.
The duplication includes ~3.75 Mb between the distal and proximal ORDRs at either end of band 8p23.1. The copy number of the adjacent repeats may also be altered. The 8p23.1 duplication syndrome cannot be distinguished using conventional cytogenetics from high level copy number variation of the repeats themselves. Both de novo cases and families with transmitted duplications from parents of both sex are known.
It was initially noted that this yeast genome contained many individual gene duplications. Wolfe & Shields hypothesized that this was actually the result of an entire genome duplication in the yeast's distant evolutionary history. They found 32 pairs of homologous chromosomal regions, accounting for over half of the yeast's genome. They also noted that although homologs were present, they were often located on different chromosomes.
Gene duplications have played a crucial role in the evolution of species. This applies particularly to transcription factors. Once they occur as duplicates, accumulated mutations encoding for one copy can take place without negatively affecting the regulation of downstream targets. However, changes of the DNA binding specificities of the single-copy LEAFY transcription factor, which occurs in most land plants, have recently been elucidated.
The duplications of workshops and other facilities and the inability to transfer locomotives and rollingstock to meet shifting traffic demands between lines created problems. The North Coast railway line, roughly following the coast, and three inland routes now provide the core of the state's rail network. Numerous branch lines, many since closed, once serviced remote areas and provided transport to local industries, particularly mining.
The genome of a female marmoset was published in 2014. It became the first non-human primate, among the New World Monkeys, to have its complete genome sequenced. The genome size is 2.26 Gb, and contains 21,168 genes. Segmental duplications added a total of 138 Mb of non-redundant sequences (4.7% of the whole genome), slightly less than observed in human or chimpanzee (~5%), but more than in orangutan (3.8%).
Go-Video was an electronics company that manufactured dual-deck VHS recorders for home use. The company was founded in 1983 by Terren Dunlap and Richard Lang as a solution for professionally duplicating videotapes for weddings, reunions and business presentations. The general idea was to have a mobile van that could produce same-day duplications, thus the name Go-Video. The idea later transformed into the concept of production manufacturing.
Anchoring one half of the pair uniquely to a single location in the genome allows mapping of the other half that is ambiguous. Ambiguous reads are those that map to more than a single location. This increased efficiency reduces the cost of sequencing as these ambiguous sequences, or reads, would normally be discarded. The connectivity of PET sequences also allows detection of structural variations: insertions, deletions, duplications, inversions, translocations.
Similar to environmental conditions, the genetic background can determine the essentiality of a gene: a gene may be essential in one individual but not another, given his or her genetic background. Gene duplications are one possible explanation (see below). Metabolic dependency. Genes involved in certain biosynthetic pathways, such as amino acid synthesis, can become non-essential if one or more amino acids are supplied by culture medium or by another organism.
Helitrons encode an unknown protein which is thought to have HUH endonuclease function as well as 5' to 3' helicase activity. This enzyme would make a single stranded cut in the DNA which explains the lack of Target Site Duplications found in Helitrons. Helitrons were also the first class of transposable elements to be discovered computationally and marked a paradigm shift in the way that whole genomes were studied.
The Archaeoglobus fulgidus genome is a circular chromosome roughly half the size of E. coli at 2,178,000 base pairs. A quarter of the genome encodes preserved proteins whose functions are not yet determined, but are expressed in other archaeons such as Methanococcus jannaschii. Another quarter encodes proteins unique to the archaeal domain. One observation about the genome is that there are many gene duplications and the duplicated proteins are not identical.
Duplications arise from an event termed unequal crossing-over that occurs during meiosis between misaligned homologous chromosomes. The chance of it happening is a function of the degree of sharing of repetitive elements between two chromosomes. The products of this recombination are a duplication at the site of the exchange and a reciprocal deletion. Ectopic recombination is typically mediated by sequence similarity at the duplicate breakpoints, which form direct repeats.
Often the resulting genomic variation leads to gene dosage dependent neurological disorders such as Rett-like syndrome and Pelizaeus–Merzbacher disease. Such detrimental mutations are likely to be lost from the population and will not be preserved or develop novel functions. However, many duplications are, in fact, not detrimental or beneficial, and these neutral sequences may be lost or may spread through the population through random fluctuations via genetic drift.
As a result, there may appear to be two openings to the vagina. There may be associated duplications of the more cranial parts of the Müllerian derivatives, a double cervix, and either a uterine septum or uterus didelphys (double uterus). A transverse septum forms during embryogenesis when the Müllerian ducts do not fuse to the urogenital sinus. A complete transverse septum can occur across the vagina at different levels.
Key findings of the draft (2001) and complete (2004) genome sequences include: # There are approximately 22,300 protein-coding genes in human beings, the same range as in other mammals. # The human genome has significantly more segmental duplications (nearly identical, repeated sections of DNA) than had been previously suspected. # At the time when the draft sequence was published, fewer than 7% of protein families appeared to be vertebrate specific.
A common example is Down syndrome, which is caused by possessing three copies of chromosome 21 instead of the usual two. Partial aneuploidy can also occur as a result of unbalanced translocations during meiosis. Deletions of part of a chromosome cause partial monosomies, while duplications can cause partial trisomies. If the duplication or deletion is large enough, it can be discovered by analyzing a karyogram of the individual.
The land was covered with millions of tonnes of volcanic ash, mud and debris on average thick. Although the official contemporary death toll was 153, exhaustive research by physicist Ron Keam only identified 108 people killed by the eruption. Much of the discrepancy was due to misspelled names and other duplications. Allowing for some unnamed and unknown victims, he estimated that the true death toll was 120 at most.
Speciation via polyploidy: A diploid cell undergoes failed meiosis, producing diploid gametes, which self- fertilize to produce a tetraploid zygote. Polyploidy is pervasive in plants and some estimates suggest that 30–80% of living plant species are polyploid, and many lineages show evidence of ancient polyploidy (paleopolyploidy) in their genomes. Huge explosions in angiosperm species diversity appear to have coincided with ancient genome duplications shared by many species.de Bodt et al.
These variants that are about 3 Mb or larger in size are considered microscopic structural variants. This scale is large enough to be visualized using a microscope and include aneuploidies, heteromorphisms, and chromosomal rearrangements. When DNA sequencing was introduced, it opened the door to finding smaller and incredibly more sequence variations including SNPs and minisatellites. This also includes small inversions, duplications, insertions, and deletions that are under 1 kb in size.
Saposins are highly conserved glycoproteins, approximately 80 amino acid residues long and forming a four alpha helical structure. They have a nearly identical placement of cysteine residues and glycosylation sites. The cDNA sequence that codes for saposin is called prosaposin. It is a precursor for four cleavage products, the saposins A, B, C, and D. The four saposin domains most likely arose from two tandem duplications of an ancestral gene.
Schizophrenia is a debilitating neuropsychiatric illness with multiple genes and environmental exposures involved in its genesis. Further research indicates that deletion of the NRXN1 gene increases the risk of schizophrenia. Genomic duplications and deletions on a micro-level – known as copy number variants (CNVs) – often underlie neurodevelopmental syndromes. Genomic-wide scans suggest that individuals with schizophrenia have rare structural variants that deleted or duplicated one or more genes.
When the original single track Main South line was built through Moss Vale in 1868, it crossed Argyle Street on a low-level timber beam bridge. In 1886 the Existing Lines Branch replaced the timber bridge with a wrought iron truss, still single track. When the duplications were planned around 1910 a new double track bridge was designed. It was to be at a higher level, clear span over Argyle Street.
The RDFa markup in XHTML+RDFa reuses the markup code, thus eliminating the need for unnecessary duplications. XHTML+RDFa is not widely distributed yet, probably due to the lack of support in authoring tools and content management systems. However, there is good tendency. Drupal 7, for example, supports RDFa. Since the “a” in RDFa stands for attributes, it is straightforward to use CSS selectors to style the code.
Using this method, copy number changes at a level of 5–10 kilobases of DNA sequences can be detected. , even high-resolution CGH (HR-CGH) arrays are accurate to detect structural variations (SV) at resolution of 200 bp. This method allows one to identify new recurrent chromosome changes such as microdeletions and duplications in human conditions such as cancer and birth defects due to chromosome aberrations. Figure 2.
Come explore! Since 1969, The Walker Transportation Collection has served the interest of the researcher, student, transportation buff, and casual visitor alike – supplying photos, duplications, and other materials at nominal cost. With thousands of photos and slides, hundreds of books and periodicals, and scores of artifacts and models to examine, the Collection offers a major source for discovering New England’s ways of transporting its people and their goods.
But additions were soon signed that removed duplications and other works from the contracts. The duplication commitment fell from 995 to 616 km. To make matters worse, in 2019, what had been doubled was no more than 300 km, even with toll rates rising every year. The MPF (Federal Public Ministry) then carried out Operation Integration, which showed that the changes made to the contracts are part of a millionaire kickback scheme.
Joining of fragments and rearrangements have also been shown to take place on paternal chromosomes. As well as in cancer cells, chromothripsis has also be reported in patients with developmental and congenital defects, i.e. germ line cells. Using multiple molecular techniques of these germ line cells that have appeared to have undergone a chromothripsis like process, as well as inversions and translocations, duplications and triplications were also seen and hence increases in copy number.
Saccharides are a food source rich in energy. Large polymers such as starch are partially hydrolyzed in the mouth by the enzyme amylase before being cleaved further into sugars. Many mammals have seen great expansions in the copy number of the amylase gene. These duplications allow for the pancreatic amylase AMY2 to re- target to the salivary glands, allowing animals to detect starch by taste and to digest starch more efficiently and in higher quantities.
Such duplications are probably fundamental to the creation of genetic novelty. Horizontal gene transfer is invoked to explain how there is often an extreme similarity between small portions of the genomes of two organisms that are otherwise very distantly related. Horizontal gene transfer seems to be common among many microbes. Also, eukaryotic cells seem to have experienced a transfer of some genetic material from their chloroplast and mitochondrial genomes to their nuclear chromosomes.
He also found apparent anachronisms: statements seemingly from a later time than Genesis was set. Astruc hypothesized that this separate material was fused into a single unit that became the book of Genesis thereby creating its duplications and parallelisms. Further examples of the products of source criticism include its two most influential and well-known theories concerning the origins of the Pentateuch (the Documentary hypothesis) and the four gospels (two-source hypothesis).
However, given their location close to regulatory elements, it is possible that they are involved in gene regulation, which suggests that common variance in brain structure could be associated with differences in gene regulation rather than protein structure, consistent with findings in other complex human traits. CDK5RAP2 is a paralogue of myomegalin, which in mammals contains an Olduvai domain, a domain with human-specific duplications that have been implicated in human brain size evolution.
The comparison of complete gene sets for a group of organisms allows the identification of events in gene evolution such as gene duplication or gene deletion. Often, such events are evolutionarily relevant. For example, multiple duplications of genes encoding degradative enzymes of certain families is a common adaptation in microbes to new nutrient sources. On the contrary, loss of genes is important in reductive evolution, such as in intracellular parasites or symbionts.
Many genes are duplicated within a genome and many organisms have different metabolic pathways (alternative metabolic pathway) to synthesis same products. Such duplications (paralogs) and alternative metabolic pathways often render essential genes non-essential because the duplicate can replace the original copy. For instance, the gene encoding the enzyme aspartokinase is essential in E. coli. By contrast, the Bacillus subtilis genome contains three copies of this gene, none of which is essential on its own.
This is an imprinting error where the person receives two copies of chromosome 7 from the mother (maternally inherited) rather than one from each parent. Other genetic causes such as duplications, deletions and chromosomal aberrations have also linked to Silver–Russell syndrome. Interestingly, Silver–Russell patients have variable hypomethylation levels in different body tissues, suggesting a mosaic pattern and a postzygotic epigenetic modification issue. This could explain the body asymmetry of the SRS phenotype.
IL17RD is probably the most ancient member of IL-17 receptor family. It was firstly identified in zebrafish and its homologues were also found in sea lamprey and C. elegans. There are two IL-17Rs (IL-17RA and IL-17RD) in the genome of the basal chordate Amphioxus. After two rounds of whole genome duplications, these two IL-17R genes expanded into five early vertebrate IL-17R genes, IL-17RA to IL-17RE.
The alignable sequences within genomes of humans and chimpanzees differ by about 35 million single-nucleotide substitutions. Additionally about 3% of the complete genomes differ by deletions, insertions and duplications. Since mutation rate is relatively constant, roughly one half of these changes occurred in the human lineage. Only a very tiny fraction of those fixed differences gave rise to the different phenotypes of humans and chimpanzees and finding those is a great challenge.
450-464 and thus discovered many genes whose function they elucidated. They also discovered in 2000 that plant genomes had undergone global duplication cycles during the evolution of cycles and thus contributed to the current conception of genome evolution.J. Salse et al., « Identification and characterization of shared duplications between rice and wheat provide new insight into grass genome evolution », Plant Cell, (2008), 20, p. 11-24 They also characterized the first cassava cDNAsC.
When non-allelic homologous recombination occurs between different LCRs, deletions or further duplications of the DNA can occur. This can give rise to rare genetic disorders, caused by the loss or increased copy number of genes within the deleted or duplicated region. It can also contribute to the copy number variation seen in some gene clusters. As LCRs are often found in "hotspots" in the human genome, some chromosomal regions are particularly prone to NAHR.
It was previously known that repeated sequences on a chromosome increases the probability of non allelic homologous recombination. These repeated sequences could cause deletions, duplications, inversions, and inverted duplication chromosomes. The products of this mechanism from the sequence repeats is depicted in Figure 2. A study was done on the olfactory receptor gene clusters where they questioned if there was an association between normal rearrangement of 8p and the repeated inverted sequences.
DVD-Audio discs may optionally employ a copy protection mechanism called Content Protection for Prerecorded Media (CPPM). CPPM, managed by the 4C Entity, was designed to prevent users from extracting audio to computers and portable media players. Because DVD-Video's content-scrambling system (CSS) was quickly broken, DVD-Audio's developers sought a better method of blocking unauthorized duplications. They developed CPPM, which uses a media key block (MKB) to authenticate DVD-Audio players.
But additions were soon signed that removed duplications and other works from the contracts. The duplication commitment fell from 995 to 616 km. To make matters worse, in 2019, what had been doubled was no more than 300 km, even with toll rates rising every year. The MPF (Federal Public Ministry) then carried out Operation Integration, which showed that the changes made to the contracts are part of a millionaire kickback scheme.
Large expansions of zen through gene duplication have also been observed within Lepidoptera. In this group, zen has duplicated at least four times resulting in the emergence of the additional divergent 'Special homeobox' (Shx) genes, named ShxA, ShxB, ShxC and ShxD . The original zen gene is still present. In some lepidopteran species, such as the Domesticated Silkmoth Bombyx mori, even greater numbers of duplications of zen occurred, with 12 Shx loci annotated along with zen .
Mitochondrial genome maintenance exonuclease 1, abbreviated as MGME1, is an enzyme that in humans is encoded by the MGME1 gene. MGME1 is a 344 amino acids long protein belonging to the PD-(D/E)XK family of nucleases. It localizes to mitochondria where it is important for maintenance of the mitochondrial genome. Loss of function mutations in MGME1 lead to defects in mitochondrial DNA, including mitochondrial DNA depletion, duplications, deletions and increased replication intermediates.
Well ahead of his time, Akhundzade was a keen advocate for alphabet reform, recognizing deficiencies of Perso-Arabic script with regards to Turkic sounds. He began his work regarding alphabet reform in 1850. His first efforts focused on modifying the Perso-Arabic script so that it would more adequately satisfy the phonetic requirements of the Azerbaijani language. First, he insisted that each sound be represented by a separate symbol – no duplications or omissions.
As a consequence, the genome of H. werneckii is relatively large (49.9 Mb) with 15974 predicted genes. Genes encoding metal cation transporters, which are thought to play a role in halotolerance, experienced several additional gene duplications at various points during their evolution. A homothallic mating locus was found in all sequenced genomes, although one of the mating genes may have been inactivated in some strains. Despite this, phylogenetic analyses and linkage disequilibrium analyses indicate that H. werneckii is asexual.
Church planting plans are mutually shared in order to avoid duplications. Most of the Lutheran churches have also joined together to form the , which publishes Christian books and materials; one notable endeavor being in the publication of a common Lutheran hymnal.Okinawa Lutheran Church: Lutheran Mission in Japan The KELC is also a full member of the Lutheran World Federation and is cooperates with the Norwegian Missionary Society and the Evangelical Lutheran Free Church of Norway Japan Mission.
Maurice Renaud made 52 extant records, 45 of them for The Gramophone Company (the forerunner of EMI) and seven for Pathé. Issued between 1901 and 1908, many of them duplicate (or even triplicate) the same favourite pieces, meaning that he actually recorded only 16 arias and five songs. As the duplications were issued, earlier versions were deleted, so that some of these items are now, over 100 years later, exquisitely rare. With one exception, everything is sung in French.
Church planting plans are mutually shared in order to avoid duplications. Most of the Lutheran churches have also joined together to form the , which publishes Christian books and materials; one notable endeavor being in the publication of a common Lutheran hymnal. The NRK and the JELC sponsor a joint seminary in Tokyo, the Japan Lutheran Theological Seminary whilst the other Lutheran seminary in Kobe is sponsored by the Kinki Evangelical Lutheran Church and the West Japan Evangelical Lutheran Church.
It was also able to detect smaller atypical deletions that are easily missed using FISH. These factors, along with the lower expense and easier testing mean that this MLPA probe could replace FISH in clinical testing. Genetic testing using BACs-on-Beads has been successful in detecting deletions consistent with 22q11.2DS during prenatal testing. Array-comparative genomic hybridization (array-CGH) uses a large number of probes embossed in a chip to screen the entire genome for deletions or duplications.
The NBPF3 gene is 633 amino acids long and contains five DUF1220 domains, which are highlighted in the image below. DUF1220 domains are found in all other members of the neuroblastoma breakpoint family. The protein has a very repetitive structure, since, along with the remaining members of its protein family, it likely arose form segmental duplications on chromosome 1. center The domains are located at residues 236–298, 322–385, 394–460, 469–535, and 544–610.
The sequencing of a full Cephalopod genome has remained challenging to researchers due to the length and repetition of their DNA. The characteristics of Cephalopod genomes were initially hypothesized to be the result of entire genome duplications. Following the full sequencing of a California two-spot octopus, the genome showed similar patterns to other marine invertebrates with significant additions to the genome assumed to be unique to Cephalopods. No evidence of full genome duplication was found.
Paracingulin has been so far implicated in two diseases: # The aromatase excess syndrome: Heterozygous chromosomal inversion brings a cryptic aromatase promoter containing a portion of the CGNL1 promoter into a position immediately to the 5-prime of the coding region of cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1) gene. # Schizophrenia: The CGNL1 locus is one of the three loci which have been reported to be implicated in increased susceptibility to schizophrenia through the duplications at 1p36.33.
While the length of the duplication can vary from 0.5Mb to 55 Mb, most duplications measure about 4.5Mb and typically occur in the region of 11.22-11.23. Most affected females show preferential activation of the duplicated X chromosome. Features of affected individuals vary significantly, even among members of the same family. The Xp11.2 duplication can be 'silent' - presenting no obvious symptoms in carriers - which is known from the asymptomatic parents of affected children carrying the duplication.
Data for most of the storms were provided through the World Wide Consolidated Tropical Cyclone data file known as TD-9636. The document utilized several sources to indicate where storms were located, and as a result there were duplications. During the season, the Philippine Weather Bureau issued monthly bulletins, which later provided info for tropical cyclone tracks. The agency used weather stations that were established by Spain and the United States after each country ruled over the archipelago.
In 2004, the National Collectors Mint (NCM) released gold-plated replicas of the 1933 double eagle, ostensibly under the authority of the Northern Mariana Islands, a U.S. Commonwealth. The NCM advertised and certified the coins as "legal tender of the CNMI", a bogus designation. The replica coins did not include any "replica" or "copy" indications on their faces. The replica coins matched the original coins in concept of design, but they were not exact duplications of the coin.
Duplications of 22q11 vary in size and thereby in gene content. They include the typical common 3-Mb microduplication, 1.5-Mb nested duplication, consistent with non-allelic homologous recombination (NAHR) using distinct low-copy repeats. These microduplications likely represent the predicted reciprocal rearrangements to the microdeletions characterized in the 22q11.2 region. Smaller microduplications may occur within this highly dynamic with frequent rearrangements using alternative low-copy repeats as recombination substrates within and distal to the DiGeorge syndrome region.
Nixon also contended that in 46 votes, Voorhis had almost entirely followed the CIO-PAC agenda. Distraught, Voorhis stayed up until 4 am studying the votes Nixon had taxed him with. He concluded that due to duplications, there were actually only 27 roll calls in question, on many of which he had opposed the CIO-PAC position. The congressman also found that the votes "friendly" to the CIO-PAC included one authorizing a school lunch program.
Whole genome duplication, or polyploidy, is a product of nondisjunction during meiosis which results in additional copies of the entire genome. Polyploidy is common in plants, but historically has also occurred in animals, with two rounds of whole genome duplication in the vertebrate lineage leading to humans. After whole genome duplications many sets of additional genes are eventually lost, returning to singleton state. However, retention of many genes, most notably Hox genes, has led to adaptive innovation.
The gene duplication rate in C. elegans is on the order of 10−7 duplications/gene/generation, that is, in a population of 10 million worms, one will have a gene duplication per generation. This rate is two orders of magnitude greater than the spontaneous rate of point mutation per nucleotide site in this species. Older (indirect) studies reported locus-specific duplication rates in bacteria, Drosophila, and humans ranging from 10−3 to 10−7/gene/generation.
During unequal crossing over, homologous chromosomes exchange uneven portions of their DNA. This can lead to the transfer of one chromosome's gene to the other chromosome, leaving two of the same gene on one chromosome, and no copies of the gene on the other chromosome. Non-homologous duplications result from replication errors that shift the gene of interest into a new position. A tandem duplication then occurs, creating a chromosome with two copies of the same gene.
All these genes are believed to be the product of full gene or genome duplications at the dawn of vertebrate evolution, from a single ancestral Raf gene. Most other animal organisms possess only a single Raf gene. It is called Phl or Draf in Drosophila and Lin-45 in C. elegans. The family of Raf kinases (schematic architectures) Multicellular animals also have a type of kinase closely related to Raf: this is the Kinase Suppressor of Ras (KSR).
South of Derby, the road is paralleled by the M1 motorway; between Manchester and Preston, the M6 and M61 motorways approximate its course; and from Preston to its northern terminus in Carlisle, it is paralleled by the M6 only. Between Derby and Manchester, the A6 follows a completely different routing to the motorway network, crossing the Peak District rather than going around it. The A6 is considered to be less important than it was formerly because of these duplications.
The document that records this agreement is not dated, however, so it is unknown when exactly during Æthelred's episcopate the document was drawn up. Another problem for the archbishop was a decline in the abilities of the scribes at Canterbury, which is dramatically illustrated by the document, which has a number of errors and duplications. Other documents of the period show that some of the scribes had little knowledge of Latin.Brooks Early History of the Church of Canterbury pp.
In contrast to other countries the South African ID number is not unique, at least because of the use of a two-digit year. Other issues with duplications exist: however the Department of Home Affairs HANIS Project has planned to rectify that with ID smart cards. The timeline for that is undetermined as the last budget request for 08/09 and 09/10 included requests for budget for it despite the project being active since 1997.
Because the original gene is still able to perform its function, the duplicated gene is free to diverge and may acquire new functions (by random mutation). Certain gene/protein families, especially in eukaryotes, undergo extreme expansions and contractions in the course of evolution, sometimes in concert with whole genome duplications. This expansion and contraction of protein families is one of the salient features of genome evolution, but its importance and ramifications are currently unclear. Phylogenetic tree of RAS superfamily.
Secondly, these genes are five to ten times more likely than their counterparts to show interspecies and intraspecies structural and copy-number variation. Finally, immune response and xenobiotic recognition are some functions that are enriched within these genes. Together, this suggests an important role for segmental duplication within human and primate adaptive evolution. This has a great effect in humans as polymorphic insertions, inversions, and deletions are found with greater frequency near sites of segmental duplications.
Similarly observed in chimpanzees, this suggests that duplicated regions are continuing to rearrange and evolve in contemporary primate populations. Recent research also suggests that segmental duplications and structural variation also have protective and beneficial effects. A 900kb inversion polymorphism, which is mediated by segmental duplication, is associated with positive selection for increased fertility for the Icelandic population. Additionally, an increased copy number of CCL3L1 due to duplication is associated with decreased susceptibility to the HIV infection.
This gene is a member of the DAZ gene family and is a candidate for the human Y-chromosomal azoospermia factor (AZF). Its expression is restricted to pre-meiotic germ cells, particularly in spermatogonia. It encodes an RNA-binding protein that is important for spermatogenesis. Four copies of this gene are found on chromosome Y within palindromic duplications; one pair of genes is part of the P2 palindrome and the second pair is part of the P1 palindrome.
The fortunes of the LSA had begun to decline by 1920 when Boyce hired the first professional editor for Lone Scout, George N. Madison. Madison discovered that the LSA's membership roster was wildly inaccurate: it was full of duplications and inactive members. The reported 490,000 Lone Scouts in 1922 was a vastly inflated number. Boyce finally accepted West's annual offer to merge with the BSA in April 1924, with the merger formalized on June 16, 1924.
Chimeric genes are important players in the evolution of genetic novelty. Much like gene duplications, they provide a source of new genes, which can allow organisms to develop new phenotypes and adapt to their environment. Unlike duplicate genes, chimeric proteins are immediately distinct from their parental genes, and therefore are more likely to produce entirely new functions. Chimeric fusion proteins form often in genomes, and many of these are likely to be dysfunctional and eliminated by natural selection.
Many newer route designations are given to roads long having been on the state rolls, but which have been severed or isolated from its former designation by newer construction. Despite the high numbers, some roadways in the 3XXX series are major, heavily trafficked thoroughfares; an example is LA 3132, a connector between I-20 and I-49 in Shreveport—and a rare example, in Louisiana, of a state highway built in the multilane, divided, access-fully-controlled format typical of interstate highways. Official US highway-state highway number duplications have been disallowed since 1955, but interstate-state highway duplications are permitted, and all interstate routes except 210 and 220 are duplicated in the rolls of state highway numbers. Most state highways with the same numbers as interstates are a comfortable distance away, with two exceptions: LA 59 and I-59, which exist within of each other in St. Tammany Parish, and which both intersect I-12; and LA 10 and I-10, which both flow east–west across south Louisiana.
Lastly, it could be said that the model does not account correctly for gene duplications, as well as gene losses: the changes in evolutionary rates caused by gene duplications due to new functional changes would increase BLAST error rates, and gene loss in taxa distant to the one studied could lead to great underestimations in the calculated gene age and phylostratum of founder genes compared to their true values. However, rather than demanding to simply abandon the method, critics have been trying to work at refining it from its original state, by introducing other potential mathematical formulas or sequence searching tools, although the Ruđer Bošković Institute has replied to such criticism claiming their original approach was valid and did not need to be extensively revised. This debate is also included as part of the wider discussion on the importance of de novo gene births in creating genetic diversity, in which genomic phylostratigraphy supports that they do hold a strong effect, in a way that it can only be widely accepted or refuted once the latter dilemma has been resolved.
Orthologues of myomegalin are seen in vertebrates as far back as bony fish, around 450 million years ago. In mammals, around 200 million years ago, myomegalin gained an Olduvai domain. Olduvai domains have so far only elsewhere been found in NBPF genes in placental mammals, many of which are adjacent to myomegalin on chromosome 1, so it is believed that these genes originated from a duplication of myomegalin. Increased NPBF Olduvai domain duplications in humans have been implicated in human brain size evolution.
Tandemly arrayed genes (TAGs) are a gene cluster created by tandem duplications, a process in which one gene is duplicated and the copy is found adjacent to the original. They serve to encode large numbers of genes at a time. TAGs represent a large proportion of genes in a genome, including between 14% to 17% of the human, mouse, and rat genomes. TAG clusters may have as few as two genes, with small clusters predominating, but may consist of hundreds of genes.
Mutations can involve large sections of DNA becoming duplicated, usually through genetic recombination. These duplications are a major source of raw material for evolving new genes, with tens to hundreds of genes duplicated in animal genomes every million years. Most genes belong to larger families of genes of shared ancestry. Novel genes are produced by several methods, commonly through the duplication and mutation of an ancestral gene, or by recombining parts of different genes to form new combinations with new functions.
In many cases, these events can be inferred only through comparing sequenced genomes. Examples of unexpected but recently confirmed ancient genome duplications include baker's yeast (Saccharomyces cerevisiae), mustard weed/thale cress (Arabidopsis thaliana), rice (Oryza sativa), and an early evolutionary ancestor of the vertebrates (which includes the human lineage) and another near the origin of the teleost fishes. Angiosperms (flowering plants) have paleopolyploidy in their ancestry. All eukaryotes probably have experienced a polyploidy event at some point in their evolutionary history.
In an effort to solve the duplications in several positions, the Giants engaged in a multi-player deal with sister team Barangay Ginebra. Burger King was willing to act as the conduit for this intra-company exchange, and thus the player carousel began. The Gin Kings bulked up their frontline by acquiring Enrico Villanueva, Paolo Bugia, and Rich Alvarez from Purefoods. They also deepened their backcourt rotation by taking Celino Cruz from the Giants and Pocholo Villanueva from the Whoppers.
The group ectopically expressed the gene by taking advantage of a retroviral vector to insert the cDNA into chick cells. There are unique types of this retroviral vector that only infect specific strains of avian species. Therefore, this group used a retroviral vector termed RCAS-E, which lacks a type E envelope protein, and is able to infect certain chick embryo fibroblasts with Shh. 650px Results showed digit duplications, with the most common being 4-3-3-4, with digit 2 missing.
MITEs were first discovered in plants. Elements belonging to the CACTA, hAT, Mutator, PIF, and Tc1/Mariner superfamilies have been described. Depending upon the similarity of their terminal inverted repeats and target site duplications, most of the MITEs in plant genomes are divided into two major groups: Tourist-like MITEs (derived from PIF) and Stowaway-like MITEs (derived from Tc1/mariner).Stowaway and Tourist elements differ remarkably in their sequences but they have been found to have significant structural similarities.
Both ova are then fertilized, each by a different sperm, and the coalesced zygotes undergo further cell duplications developing as a chimeric blastomere. If this blastomere then undergoes a twinning event, two embryos will be formed, with different paternal genetic information and identical maternal genetic information. This results in a set of twins with identical gene sequence from the mother's side, but different sequences from the father's side. Cells in each fetus carry chromosomes from either sperm, resulting in chimeras.
This is a consequence of the two rounds of whole genome duplication that occurred early in the vertebrate evolutionary history. Two such events would have produced four homologous genes, one of which must have been lost. Desert Hedgehogs are the most closely related to Drosophila Hh. Additional gene duplications occurred within some species such as the zebrafish Danio rerio, which has an additional tiggywinkle hedgehog gene in the sonic group. Various vertebrate lineages have adapted hedgehogs to unique developmental processes.
The 377th Fighter Squadron was reactivated at Montgomery Air National Guard Base during a ceremony on 17 October 2014, replacing Detachment 100 of the 495th Fighter Group. As an Active Association Unit it is part of the Total Force Integration (TFI) initiative whereby Regular Air Force personnel work side-by-side with host Air National Guard personnel in a mutually beneficial relationship to share resources, reduce duplications of effort, and ultimately, increase the Air Force's ability to provide dominant combat airpower for America.
Other types of mutations modify larger segments of DNA and can cause duplications, insertions, deletions, inversions, and translocations. Most organisms display a strong bias in the types of mutations that occur with strong influence in GC-content. Transitions (A ↔ G or C ↔ T) are more common than transversions (purine (adenine or guanine)) ↔ pyrimidine (cytosine or thymine, or in RNA, uracil)) and are less likely to alter amino acid sequences of proteins. Mutations are stochastic and typically occur randomly across genes.
There is a curious resemblance of the increased aromatase activity in chickens, to the aromatase excess syndrome in humans, a rather rare syndrome that can lead to gynecomastia in boys, and to precocious puberty and gigantomastia in girls, and which is also inherited in an autosomal dominant fashion.Fukami, M. et al 2011 "Aromatase excess syndrome: identification of cryptic duplications and deletions leading to gain of function of CYP19A1 and assessment of phenotypic determinants". J. Clin. Endocrinol. Metab. 96 (6): E1035–43.
Over 100 researchers and 13 universities have interviewed and collected blood samples from more than 2000 families to look for a genetic linkage to autism. The majority of tested individuals have moderate to severe autistic symptoms and do not display high levels of intellectual disability. Additionally, autistic individuals from enrolled SSC families exhibit genetic deletions, duplications, and copy number variants (CNVs) that are not present in unaffected family members. Siblings serve as ideal control groups to identify unique CNVs associated with autism.
Gene duplications and losses within a family are common and represent a major source of evolutionary biodiversity. Sometimes, gene duplication may result in a nonfunctional copy of a gene, or a functional copy may be subject to mutations that result in loss of function; such nonfunctional genes are called pseudogenes. "Orphan" genes, whose sequence shows no similarity to existing genes, are less common than gene duplicates. The human genome contains an estimate 18 to 60 genes with no identifiable homologs outside humans.
Pelizaeus–Merzbacher disease is caused by X-linked recessive mutations in the major myelin protein proteolipid protein 1 (PLP1). This causes hypomyelination in the central nervous system and severe neurological disease.The majority of mutations result in duplications of the entire PLP1 gene. Deletions of PLP1 locus (which are rare) cause a milder form of Pelizaeus–Merzbacher disease than is observed with the typical duplication mutations, which demonstrates the critical importance of gene dosage at this locus for normal CNS function.
Features should be named only when they have special scientific interest, and when the naming of such features is useful to the scientific and cartographic communities at large. #Duplication of the same surface feature name on two or more bodies, and of the same name for satellites and minor planets, is discouraged. Duplications may be allowed when names are especially appropriate and the chances for confusion are very small. #Individual names chosen for each body should be expressed in the language of origin.
Regions of the genome which are flanked by repeats represent potential hotspots of genomic instability that are prone to copy-number variation. It has been shown that the larger and more homologous duplicated sequences lead to more sporadic segmental aneusomy events. The human genome contains around 130 regions, totaling 274Mb and ten percent of the total genome, that are flanked by these intrachromosomal duplications. Scientists have currently identified twenty-five of these regions to be directly associated with some form of genetic disorder.
The neuroblastoma breaking point family (NBPF) is a family of genes involved in neuronal development. The family is highly specific to primates, with minimal similarity or presence in other mammals and no presence in other animals, and its genes' content has been subject to a very high number of duplications in humans. It was described by Vandepoele et al. in 2005 and named as such because NBPF1 was found to be broken by a chromosomal translocation in a neuroblastoma patient.
The amino acid changes per 100 (m) in a selection of orthologs of CCDC180 versus time of divergence of the species from human in millions of years. This is compared to Cytochrom C and Fibrinogen to indicate the relatively high speed of evolution of the CCDC180 protein. CCDC180 is a relatively quickly-evolving gene compared to other well-known genes. There are no known family members, splice variants or isoforms, or evidence of gene duplications in the history of the gene.
The original purpose of this number was to track individuals' accounts within the Social Security program. It has since come to be used as an identifier for individuals within the United States, although rare errors occur where duplicates do exist. As numbers are now assigned by the central issuing office of the SSA, it is unlikely that duplication will ever occur again. A few duplications did occur when prenumbered cards were sent out to regional SSA offices and (originally) Post Offices.
Apolipoproteins are not unique to mammals. Many terrestrial and marine vertebrates have versions of them. Proteins similar in function have been found in choanoflagellates, suggesting that they are a very old class of proteins predating the dawn of all living animals. It is believed that APOE arose via gene duplications of APOC-I before the fish-mammal split 400 million years ago. The three major human alleles (E4, E3, E2) arose after the primate-human split around 7.5 million years ago.
RBM5 and RBM6 are paralogs of RBM10. They were generated by gene duplications during genome evolution. They generally function as tumor suppressors, and their mutations are often identified in lung cancers. RBM5, RBM6, and RBM10 regulate alternative splicing and generally act on different RNAs; however, in certain cases, they act on the same subset of RNAs, likely producing synergistic or antagonistic effects. There is a cross-regulation between RBM5 and RBM10; RBM10 lowers RBM5 transcript levels by alternative splicing–coupled NMD.
It is assumed that a deletion or a duplication of a gene that produces DUF1220-areas might cause growth and development disorders in the brain Another relation between macrocephaly with duplications and microcephaly with deletions has been seen in research on the HYDIN Paralog or HYDIN2. This part of 1q21.1 is involved in the development of the brain. It is assumed to be a dosage- sensitive gene. When this gene is not available in the 1q21.1 area it leads to microcephaly.
Mutations can involve the duplication of large sections of DNA, usually through genetic recombination. These duplications are a major source of raw material for evolving new genes, with tens to hundreds of genes duplicated in animal genomes every million years. Most genes belong to larger gene families of shared ancestry, detectable by their sequence homology. Novel genes are produced by several methods, commonly through the duplication and mutation of an ancestral gene, or by recombining parts of different genes to form new combinations with new functions.
They are considered the main driver behind the generation of gene duplications and are a general source of mutation within the genome. The specific causes of non-homologous crossover events are unknown, but several influential factors are known to increase the likelihood of an unequal crossover. One common vector leading to unbalanced recombination is the repair of double-strand breaks (DSBs). DSBs are often repaired using homology directed repair, a process which involves invasion of a template strand by the DSB strand (see figure below).
In plants they seem to have diversified using mechanisms such as gene duplications, evolution of novel genes and the development of novel biosynthetic pathways. Studies have shown that diversity in some of these compounds may be positively selected for. Cyanogenic glycosides may have been proposed to have evolved multiple times in different plant lineages, and there are several other instances of convergent evolution. For example, the enzymes for synthesis of limonene – a terpene – are more similar between angiosperms and gymnosperms than to their own terpene synthesis enzymes.
Left: teosinte; right: maize; middle: maize-teosinte hybrid In recent times, plants have been shown to possess significant microRNA families, which are conserved across many plant lineages. In comparison to animals, while the number of plant miRNA families is less, the size of each family is much larger. The miRNA genes are also much more spread out in the genome than those in animals, where they are found clustered. It has been proposed that these miRNA families have expanded by duplications of chromosomal regions.
Genome Res. 13, 1056-1066 (2003)"Fugu genome analysis provides evidence for a whole-genome duplication early during the evolution of ray-finned fishes." A. Christoffeles, et al. Mol. Biol. Evol. 21, 1146-1151 (2004) A comparison of the genomes of the Lancelet Branchiostoma floridae, the Tunicates Ciona intestinalis and Oikopleura dioica, the lamprey Petromyzon marinus, the fish Fugu rubripes and Gasterosteus aculeatus, the chicken Gallus gallus, and human Homo sapiens confirmed that two whole-genome duplications occurred in the early history of the Vertebrata clade.
DNA sequencing is a method of testing that looks for single letter changes (single-nucleotide polymorphisms) in the genetic code. It can also determine when a small number of letters are missing (deletions) or extra (duplications). Sequencing may be performed on a single gene, a group of genes (panel testing), most of the coding region or exons (whole exome sequencing), or most of the genome (whole genome sequencing). With time, this technology is expected to be able to detect any abnormality of the human genome.
The Plant Genome Mapping Laboratory (PGML) is a department of the University of Georgia, directed by Dr. Andrew H. Paterson. Research focuses on the study of major crop species such as sorghum and cotton, as well as other species such as Bermuda Grass, Brassica and Peanut. Research topics include whole genome genetic mapping and physical mapping; polyploidy; ancient whole genome duplications; comparative genomics; gene cloning; drought tolerance; seed shattering and cotton fiber qualities. PGML has led in the sequencing of the sorghum genome and the cotton genome.
Using microarrays, almost 1,500 copy number variable regions, covering around 12% of the genome and containing hundreds of genes, disease loci, functional elements and segmental duplications, have been identified in the HapMap sample collection. Although the specific function of CNVs remains elusive, the fact that CNVs span more nucleotide content per genome than SNPs emphasizes the importance of CNVs in genetic diversity and evolution. Investigating human genomic variations holds great potential for identifying genes that might underlie differences in disease resistance (e.g. MHC region) or drug metabolism.
Transporter genes and regulatory genes are also missing from the genome. Such gene loss is typical of an obligate and intracellular bacterium. The A. pisum genome has undergone more unique genomic changes compared to other insects of the order Hemiptera. The aphid genome is 464MB with aphid-specific orphan genes making up 20% of the genome and gene duplication present in more than 2000 gene families. These orphan genes and gene duplications are likely associated with the “metabolic, structural and developmental” components of the endosymbiotic relationship.
Copy-number variations (CNVs) are an abundant form of genome structure variation in humans. A discrete-valued bivariate HMM (dbHMM) was used assigning chromosomal regions to seven distinct states: unaffected regions, deletions, duplications and four transition states. Solving this model using Baum-Welch demonstrated the ability to predict the location of CNV breakpoint to approximately 300 bp from micro-array experiments. This magnitude of resolution enables more precise correlations between different CNVs and across populations than previously possible, allowing the study of CNV population frequencies.
There are also three additional euchromatin/heterochromatin transition regions for a total of four on the Y chromosome. Together, these are Yp11.2/Yp11.1, Yq11.1/Yq11.21, Yq11.23/Yq12, and Yq12/PAR2. Of these four regions, the Yq11.23/Yq12 region is unique in its structure as it is composed of recurrent TPTE and SLC25A15 duplicons which have originated from different long arms regions of chromosome 13. Furthermore, the Yp11.2/Yp11.1 and Yq11.1/Yq11.21 regions contain the more ancient duplications and are predominantly located in the subtelomeric regions.
In jawless fishes, two subsets of lymphocytes use variable lymphocyte receptors (VLRs) for antigen binding. Diversity is generated by a cytosine deaminase-mediated rearrangement of LRR-based DNA segments. There is no evidence for the recombination-activating genes (RAGs) that rearrange Ig and TCR gene segments in jawed vertebrates. The evolution of the AIS, based on Ig, TCR, and MHC molecules, is thought to have arisen from two major evolutionary events: the transfer of the RAG transposon (possibly of viral origin) and two whole genome duplications.
Koebnerisin (S100A15) has lately evolved by gene duplications within the Epidermal Differentiation Complex (EDC, chromosome 1q21) during primate evolution forming a novel S100 subfamily together with Psoriasin (S100A7). Therefore, koebnerisin is almost identical to psoriasin in sequence (>90%). Despite their high homology, koebnerisin (S100A15) and psoriasin (S100A7) are distinct in tissue distribution, regulation, structure and function and, thus exemplary for the diversity within the S100 family. Their different properties are compelling reasons to discriminate S100A15 (koebnerisin) and S100A7 (psoriasin) in epithelial homeostasis, inflammation and cancer.
SRGAP2 is one of 23 genes that are known to be duplicated in humans but not other primates. SRGAP2 has been duplicated three times in the human genome in the past 3.4 million years: one duplication 3.4 million years ago (mya) called SRGAP2B, followed by two that copied SRGAP2B 2.4 mya into SRGAP2C and ~1 mya into SRGAP2D. All three duplications are also present in Denisovans and Neanderthals. They are shortened in the same manner, keeping the F-box domain but ditching the RhoGAP and SH3 domains.
The formation of decamethyldizincocene is, however, rather unpredictable. Several duplications of this reaction (under conditions that favor the formation of decamethyldizincocene) have inexplicably led to the formation of only the half-sandwich complex (η5-C5Me5)ZnEt. The formation of the products (η5-C5Me5)ZnEt and Zn2(η5-C5Me5)2 occur via separate, competitive reaction pathways and, therefore, the two products do not interconvert when left to react over extended periods of time. The formation of the half-sandwich complex is believed to occur via hydrocarbyl-bridged intermediates.
A phylogenic tree for the dystrophin protein family has been proposed based on the analysis of known dystrobrevin and dystrophin sequences that were extracted from human and fruit fly proteins. The phylogeny postulated a non-metazoan ancestor that had a single dystrophin/dystrobrevin protein, which probably functioned as a homodimer. At some point before the last common ancestor of metazoans, a duplication lead to a separation of dystrophin and dystrobrevin genes, their protein products forming a heterodimer of more specialized components. In vertebrates, two other duplications occurred.
The predisposing conditions described in the previous paragraph can serve to enhance the ability of the plasmablasts in PBL to: avoid the host's immune surveillence; survive for prolonged periods, grow excessively, and acquire pro-malignant gene abnormalities. Some of the gene abnormalities found in PBL include: 1) increased expression of the MYC proto-oncogene due to its rearrangement with an antibody gene by genetic recombination or, less commonly, other causes (Myc protein, the product of this gene, enhances cell proliferation, inhibits apoptosis, and promotes maliganancy); 2) loss in the expression of the PRDM1 gene whose product, PRDM1/BLMP1 protein, represses the expression of Myc protein;) 3) frequent duplications in certain areas of chromosomes 1, 7, 11, and 22 (these duplications are similar to those often seen in diffuse large cell lymphoma); 4) reduced expression of at least 13 genes that are involved in B-cell responses to signaling agents. 5) increased expression of genes which promote the maturation of B-cells toward plasma cells (e.g. CD38, CD138, IR4/MUM1, XBP1, IL21R, and, as just indicated, PRDM1); and 6) reduced expression of genes characteristic of B-cells (e.g.
However, the main problem arose from the decision to combine re-enrolment with the 1976 census. Many voters had been confused by the need to re-enrol only a year after the previous election, and many had not bothered to fill out their forms. Census staff had not been given the authority to insist on the card being completed. To avoid disenfranchising a significant portion of the electorate, the Chief Electoral Officer decided just to carry forward many old voter registrations in the hope that duplications and outdated enrolments would be purged later.
Fluorescence in situ hybridization (FISH), is an example of a genetic labeling technique that utilizes probes that are specific for chromosomal sites along the length of a chromosome, also known as chromosome painting. Multiple fluorescent dyes that each have a distinct excitation and emission wavelength are bound to a probe which is then hybridized to chromosomes. A fluorescence microscope can detect the dyes present and send it to a computer that can reveal the karyotype of a cell. This technique allows abnormalities such as deletions and duplications to be revealed.
The members of the MADS-box family of transcription factors play a very important and evolutionarily conserved role in flower development. According to the ABC model of flower development, three zones - A, B and C - are generated within the developing flower primordium, by the action of some transcription factors, that are members of the MADS-box family. Among these, the functions of the B and C domain genes have been evolutionarily more conserved than the A domain gene. Many of these genes have arisen through gene duplications of ancestral members of this family.
Speciation via polyploidy: A diploid cell undergoes failed meiosis, producing diploid gametes, which self-fertilize to produce a tetraploid zygote. Polyploidy is frequent in plants, some estimates suggesting that 30–80% of living plant species are polyploid, and many lineages show evidence of ancient polyploidy (paleopolyploidy) in their genomes. Huge explosions in angiosperm species diversity appear to have coincided with the timing of ancient genome duplications shared by many species. It has been established that 15% of angiosperm and 31% of fern speciation events are accompanied by ploidy increase.
Furthermore, genetic testing may confirm the diagnosis in those with limited symptoms who otherwise would have been labeled "possible HHT" (see below). Genetic diagnosis in HHT is difficult, as mutations occur in numerous different locations in the linked genes, without particular mutations being highly frequent (as opposed to, for instance, the ΔF508 mutation in cystic fibrosis). Sequence analysis of the involved genes is therefore the most useful approach (sensitivity 75%), followed by additional testing to detect large deletions and duplications (additional 10%). Not all mutations in these genes have been linked with disease.
The end of 1983 and then 1984 saw more increases in passenger numbers, and more frequency increases and vehicle duplications to reflect this. At the beginning to 1984 the short term hired coaches started to be replaced by long term hires. The fleet of coaches reached 20 vehicles, and a parcels service started. On 15 April there was a major timetable revision, with more peak services bur fewer Heathrow journeys; the Sunday service was increased to hourly. The journeys not via Basildon became numbered X11, and the coach fleet reached 32 vehicles.
Transposable elements (TEs) are sequences of DNA with a defined structure that are able to change their location in the genome. TEs are categorized as either class I TEs, which replicate by a copy- and-paste mechanism, or class II TEs, which can be excised from the genome and inserted at a new location. The movement of TEs is a driving force of genome evolution in eukaryotes because their insertion can disrupt gene functions, homologous recombination between TEs can produce duplications, and TE can shuffle exons and regulatory sequences to new locations.
The development of α and β genes created the potential for hemoglobin to be composed of multiple subunits, a physical composition central to hemoglobin's ability to transport oxygen. Having multiple subunits contributes to hemoglobin's ability to bind oxygen cooperatively as well as be regulated allosterically. Subsequently, the α gene also underwent a duplication event to form the HBA1 and HBA2 genes. These further duplications and divergences have created a diverse range of α- and β-like globin genes that are regulated so that certain forms occur at different stages of development.
The experience of playing an Array mbira is that less shifting around of movement is required for playing a given chord progression. Because of the duplications of all notes available (two to three times for every octave of every note), complex rhythms and fast melodies are easier to play. The Array system allows the player to access the same notes with each hand in different locations. In addition to this, the close grouping of octaves allows large chords to be played that would require four hands on a piano.
Among people who need support with their learning, at least 3% are believed to carry the duplication. It is noted that affected members of the same family with the same Xp11.2 microduplication generally have similar learning profiles. Children with small duplications of 0.5-1.3 Mb seem to have a mild learning difficulty, while others with the typical duplication of around 4.5 Mb generally have a borderline, mild or moderate learning disability. An extreme case with a very large duplication of 55 Mb has shown to have a severe intellectual disability.
The Repeatome can be defined as the complement of repeated sequences in a genome. The eukaryotic repeatomes typically comprise variable amounts of multiple components including transposable elements (TEs) and endogenous viruses, simple sequence repeats, segmental duplications, ribosomal DNA and other ribozymes, multi-copy gene families, pseudogenes, as well as highly conserved and repeated protein domains. Because of their relative high duplication rate as compared to other genomic components, TEs are typically predominant contributors to eukaryotic repeatomes and the product of their decay is thought to be a major source of genomic dark matter.
Initially electric trains operated as 2-car shuttles between Riverstone to Richmond until the electric power supply was upgraded to allow through running to and from Sydney in 1992. In 2002 the track between Marayong and Quakers Hill was duplicated.The history of Marayong, Blacktown City Council Two further duplications were announced as part of the Rail Clearways Program - from Quakers Hill to Schofields and from Schofields to Vineyard. These provide extra capacity to support increased patronage, as the line passes through the middle of Sydney's "North West Growth Centre".
These studies have pointed to abnormalities in oscillatory activity in schizophrenia, particularly in the gamma band (30–80 Hz). Gamma band activity appears to originate from intact functioning parvalbumin-positive interneuron. Together with the post-mortem findings, these EEG abnormalities point to a role for dysfunctional parvalbumin interneurons in schizophrenia. The largest meta-analysis on copy-number variations (CNVs), structural abnormalities in the form of genetic deletions or duplications, to date for schizophrenia, published in 2015, was the first genetic evidence for the broad involvement of GABAergic neurotransmission.
Due to its prevalence in females, it has been linked to male lethality, or to a predominant transmission with the paternal X chromosome; nevertheless, in rare cases some males can also be affected by Rett Syndrome. Males with gene duplications of MECP-2 at the Xq28 locus are also at risk for recurrent infections & meningitis in infancy. Mutations in the MECP2 gene have also been identified in people with several other disorders affecting the central nervous system. For example, MECP2 mutations are associated with some cases of moderate to severe X-linked mental retardation.
After the second duplication, the channel was left with two sets of similar domains. The resulting four-domain channel is thought to have been permeable primarily for calcium, and to have achieved sodium selectivity a number of times independently. After divergence from the invertebrates, the vertebrate lineage underwent two whole-genome duplications (WGDs), yielding a set of four sodium channel gene prologues in the ancestral vertebrate, all of which were retained. After the tetrapod/teleost split, the teleosts likely underwent a third WGD leading to the eight sodium channel prologues expressed in many modern fishes.
DNA replication is a natural form of copying DNA with the amount of genes remaining constant. However, the amount of DNA or the number of genes can also increase within an organism through gene duplication, a major mechanism through which new genetic material is generated during molecular evolution. Common sources of gene duplications include ectopic recombination, retrotransposition event, aneuploidy, polyploidy, and replication slippage. A piece of DNA or RNA that is the source and/or product of either natural or artificial amplification or replication events is called an amplicon.
Based on the functions of known LSm proteins, this original LSm protein may have assisted ribozymes in the processing of RNA for synthesizing proteins as part of the RNA world hypothesis of early life. According to this view, this gene was passed from ancestor to descendant, with frequent mutations, gene duplications and occasional horizontal gene transfers. In principle, this process can be summarized in a phylogenetic tree with the root in the last universal ancestor (or earlier), and with the tips representing the universe of LSm genes existing today.
In addition, TAITRA made an initiation on DVD and optoelectronic show from 2001 to 2005. With a rapid change in electronic industry, some subsidiary shows confronted to be combined and suspended. In 2006, the TAITRA priory repackaged Taipei Opto and TAITRONICS Spring with AutoTronics Taipei (Taipei International Automobile Electronics Show) and DigiTronics Taipei, to adapt trendy changes on electronic industry. Afterward, the Taipei Computer Association also suspended "Taipei Telecom", a 14-year-old telecommunication show, with quality issue and category duplications with TICA (Taipei Computer Applications Show) since 2001.
However, as there is no universal legislature or administration with a comprehensive mandate, most international treaties exist parallel to one another and are further developed without the benefit of consideration being given to potential conflicts with other agreements. There is also the issue of international enforcement.Wolfrum, R., & Matz, N., (2003), Conflicts in International Environmental Law, Max-Planck-Institut für Ausländisches Öffentliches Recht und Völkerrech This has led to duplications and failures, in part due to an inability to enforce agreements. An example is the failure of many international fisheries regimes to restrict harvesting practises.
Wagner's work revolves around the robustness of biological systems, and about their ability to innovate, that is, to create novel organisms and traits that help them survive and reproduce. Robustness is the ability of a biological system to withstand perturbations, such as DNA mutations and environmental change. Early in his career Wagner developed a widely used mathematical model for gene regulatory circuits,Wagner A (1994) Evolution of gene networks by gene duplications: a mathematical model and its implications on genome organization. Proc. Natl. Acad. Sci. U.S.A. 91 4387-4391.
Recombination occurs not only during meiosis, but also as a mechanism for repair of double-strand breaks (DSBs) caused by DNA damage. These DSBs are usually repaired using the sister chromatid of the broken duplex and not the homologous chromosome, so they would not result in allelic conversion. Recombination also occurs between homologous sequences present at different genomic loci (paralogous sequences) which have resulted from previous gene duplications. Gene conversion occurring between paralogous sequences (ectopic gene conversion) is conjectured to be responsible for concerted evolution of gene families.
Structural variation is an important type of human genetic variation that contributes to phenotypic diversity. There are microscopic and submicroscopic structural variants which include deletions, duplications, and large copy number variants as well as insertions, inversions, and translocations. These are several different types of structural variants in the human genome and they are quite distinctive from each other. A translocation is a chromosomal rearrangement, at the inter- or intra-chromosomal level, where a section of a chromosome changes position but with no change in the whole DNA content.
Copy-number variants are defined as sections of DNA that exist in a variable copy number when comparing it to the reference genome and are larger than 1 kb in size. This definition is broad and includes deletions, duplications, and large copy number variants. If the copy number variant is present in 1% or more of the population then it is also considered a copy-number polymorphism. There was a study on the global variation in copy number in the human genome which questioned the characteristics of copy number variants in the human genome.
At the time, Pi Lambda Phi had 20 active chapters and Phi Beta Delta had 16, considering duplications, the combined Pi Lambda Phi fraternity was a net of 33 chapters. It was at this time that Pi Lambda Phi chapters were prefixed by a state designation to distinguish duplicate Greek letter names. All members and alumni of Phi Beta Delta were admitted into Pi Lambda Phi. The founders of Phi Beta Delta were David H. Cohen, Henry C. Fenton, William Haas, Darcy M. Heinemann, Joseph Michtom, Samuel Null, Julius Rudd, and Bernard Shapiro.
Genome evolution is the process by which a genome changes in structure (sequence) or size over time. The study of genome evolution involves multiple fields such as structural analysis of the genome, the study of genomic parasites, gene and ancient genome duplications, polyploidy, and comparative genomics. Genome evolution is a constantly changing and evolving field due to the steadily growing number of sequenced genomes, both prokaryotic and eukaryotic, available to the scientific community and the public at large. Circular representation of the Mycobacterium leprae genome created using JCVI online genome tools.
Structure and coding capacity of canonical animal and plant Helitrons Helitrons are structurally asymmetric and are the only class of DNA transposons that do not generate duplications of target sites during transposition. Canonical Helitrons typically begin with a 5′ T (C/T) and terminate with the nucleotides CTRR (most frequently CTAG, but occasionally variation has been noted) but do not contain terminal inverted repeats. In addition, they frequently have a short palindromic sequence (16 to 20 nucleotides) hairpin about ∼ 11 bp from the 3′ end. They integrate between an AT host dinucleotide.
Diffuse beta waves present alongside other frequencies in spontaneous EEG recorded from a 28-month-old child with Dup15q syndrome. Beta waves are often considered indicative of inhibitory cortical transmission mediated by gamma aminobutyric acid (GABA), the principal inhibitory neurotransmitter of the mammalian nervous system. Benzodiazepines, drugs that modulate GABAA receptors, induce beta waves in EEG recordings from humans and rats. Spontaneous beta waves are also observed diffusely in scalp EEG recordings from children with duplication 15q11.2-q13.1 syndrome (Dup15q) who have duplications of GABAA receptor subunit genes GABRA5, GABRB3, and GABRG3.
The number of two-component systems present in a bacterial genome is highly correlated with genome size as well as ecological niche; bacteria that occupy niches with frequent environmental fluctuations possess more histidine kinases and response regulators. New two-component systems may arise by gene duplication or by lateral gene transfer, and the relative rates of each process vary dramatically across bacterial species. In most cases, response regulator genes are located in the same operon as their cognate histidine kinase; lateral gene transfers are more likely to preserve operon structure than gene duplications.
Expression of Zerknüllt is repressed in the ventral part of the embryo by a protein called Dorsal, and activated in the dorsal part of the embryo by the TGF beta signaling pathway. The cells which activate the Zerknüllt develop into extraembryonic tissues which surround the developing insect embryo. Zerknüllt has been found to undergo a number of gene duplications in certain insect lineages. For example, in the beetle Tribolium castaneum zen duplicated to yield zen and zen2; in many flies, including Drosophila, zen duplicated to give zen, zen2 and the even more divergent Bicoid gene .
It also allows users to build customised tissue- and disease-specific interaction networks, which can be further analysed and visualised using Cytoscape or Medusa. MatrixDB is an active member of the International Molecular Exchange Consortium (IMEx), a group of the major public providers of interaction data. Other participating databases include the Biomolecular Interaction Network Database (BIND), IntAct, the Molecular Interaction Database (MINT), MIPS, MPact, and BioGRID. The databases of IMEx work together to prevent duplications of effort, collecting data from non- overlapping sources and sharing the curated interaction data.
This phylogenetic tree shows the relationship between the best-documented instances of paleopolyploidy in eukaryotes. Ancient genome duplications probably occurred in the evolutionary history of all life. Duplication events that occurred long ago in the history of various evolutionary lineages can be difficult to detect because of subsequent diploidization (such that a polyploid starts to behave cytogenetically as a diploid over time) as mutations and gene translations gradually make one copy of each chromosome unlike the other copy. Over time, it is also common for duplicated copies of genes to accumulate mutations and become inactive pseudogenes.
At least one NBPF gene has been found in Laurasiatherians, Euarchontoglires and elephants (but not other Afrotherians), but not in Xenarthrans (containing sloths). It was also found that several rodents, bats and eulipotyphla (containing hedgehogs) had lost the gene. It was found in 2012 that the exceptional increase in human Olduvai copy number was a result of multiple duplications within the NBPF genes primarily involving a sequential series of three variants of the domain. These three variants were also found in gorilla and chimpanzee genomes but are not repeated in triplet form and are only present in around five copies overall.
DUF1220 copy number variation have recently been investigated in autism which is a disorder associated with deletions and duplications of 1q21 yet the causative loci within such regions have not previously been identified. Such research has found that copy number of DUF1220 subtype CON1 is linearly associated with increasing severity of social impairment in autism. This evidence is relevant for current theories proposing that the two disorders are fundamentally related. The precise nature of this relationship is currently under debate, with alternative lines of argument suggesting that the two are diametrically opposed diseases, exist on a continuum or exhibit a more nuanced relationship.
Analysis of the genome was published in Nature on September 1, 2005, in an article produced by the Chimpanzee Sequencing and Analysis Consortium, a group of scientists which is supported in part by the National Human Genome Research Institute, one of the National Institutes of Health. The article marked the completion of the draft genome sequence. A database now exists containing the genetic differences between human and chimpanzee genes, with about thirty-five million single- nucleotide changes, five million insertion/deletion events, and various chromosomal rearrangements. Gene duplications account for most of the sequence differences between humans and chimps.
Ideogram of human chromosome 16 Links between autism and schizophrenia have been studied. From clinical observation, both conditions cause a disruption in normative social functioning which may be mild or severe depending on the individual's position within the spectrum. Social cognition is under-developed in autism and highly developed in psychoses. Four genetic loci are diametrically opposed in terms of diagnoses of autism and schizophrenia, with corresponding deletions for one condition or duplications for the other. Researchers examining chromosome 16 (16p11.2) identified a heredity area on the short arm of human chromosome 16 (16p11.2) which contains microduplication and microdeletion of genome variation.
As a by-product of his study of transposons, he developed an interest in chromosomal duplications, which are frequent in bacteria. He has recently authored several papers on the involvement of such small-effect mutations on evolution under selection.PDF As instructors of the summer Advanced Bacterial Genetics course at Cold Spring Harbor Laboratory, John Roth, David Botstein, and Ron Davis taught many scientists how to use transposons and other modern molecular genetic tools for analysis of bacteria, leading to important advances in our understanding of the genetics and physiology of bacteria. In 1988, he became a member of the National Academy of Sciences,.
Although this was certainly a great loss to the collection, there is evidence that many of these records were duplications, or contained very little relevant information. The first attempt to arrange and describe the records occurred in 1879, when George Birdwood published his Report on the old records of the India Office. In 1947, the year of Indian independence, ownership of the records transferred to the Foreign and Commonwealth Office of the British government. In 1967, the Office decided to move the records to a new facility on Blackfriars Road, where they were merged with the India Office Library.
The genes encoding human 5-HT3 receptors are located on chromosomes 11 (HTR3A, HTR3B) and 3 (HTR3C, HTR3D, HTR3E), so it appears that they have arisen from gene duplications. The genes HTR3A and HTR3B encode the 5-HT3A and 5-HT3B subunits and HTR3C, HTR3D and HTR3E encode the 5-HT3C, 5-HT3D and 5-HT3E subunits. HTR3C and HTR3E do not seem to form functional homomeric channels, but when co-expressed with HTR3A they form heteromeric complex with decreased or increased 5-HT efficacies. The pathophysiological role for these additional subunits has yet to be identified.
These mutations are heterozygous and can be nonsense, short duplications, or deletions. At this time, there is no clear reason as to why a reduced amount of the SALL4 protein causes the symptoms of Duane-radial ray syndrome and similar conditions. Duane-radial ray syndrome is inherited through autosomal dominance meaning that a mutation in one copy of the SALL 4 gene is all it takes to cause this syndrome. Those with this condition can have affected parents, but it can also manifest for the first time with no family history which is called de novo.
Examination of the protease gene (SERA) in 18 species has shown that the ancestral state had only a single gene and that gene duplications have occurred in the extant species. This paper confirms the groupings found elsewhere with an Asian clade. The rodent species seem to be more closely related to the Laverania subgenus than does the subgenus Plasmodium. A deletion mutation of ~100 base pairs including part of the LS1 rRNA gene is found in the sequences of two African species - P. gonderi and an undescribed parasite taken from a mandrill - and 2 Asian species - P. cynomolgi and P. simiovale.
Duplicate code is a computer programming term for a sequence of source code that occurs more than once, either within a program or across different programs owned or maintained by the same entity. Duplicate code is generally considered undesirable for a number of reasons. A minimum requirement is usually applied to the quantity of code that must appear in a sequence for it to be considered duplicate rather than coincidentally similar. Sequences of duplicate code are sometimes known as code clones or just clones, the automated process of finding duplications in source code is called clone detection.
A metameme based on this was posted on 4chan's paranormal board on January 31, 2013, which led to many "deranged illustrations" posted online influenced by the post. Many duplications of the video were also uploaded, with the video and its replicas garnering over 90 million views as of May 2016. On March 25, 2014, the video was a "Cartoon Brew pick", and the award was number 13 on their "Top 20 Stories of 2014" published on the site. The video was also put by Gizmodo writer Ashley Feinberg's list of the "11 of the Weirdest Videos on YouTube".
The single manager concept was the most significant advance toward integrated supply management within DoD or the military services since World War II. The Defense Cataloging and Standardization Act led to the creation of the first Federal Catalog, completed in 1956. The federal catalog system provided an organized and systematic approach for describing an item of supply, assigning and recording a unique identifying number, and providing information on the item to the system's users. The initial catalog, containing about 3.5 million items, was a rough draft, full of duplications and errors, but it effectively highlighted the areas where standardization was feasible and necessary.
To steal a crown Jewel, a player must move to the White Tower and land on a square corresponding to a Crown Jewel while possessing at least one burglary tool. The player then reveals their tools, with no duplications. On the following turn, the sum of the values of the tools will be subtracted from twelve, and the player will attempt to roll a sum equal to or greater than the difference, and will continue to roll on turns following if he is not initially successful. More than one player may attempt to steal a jewel at any given time.
Work began around 1910 with the goods line from Rozelle to the northern end of Darling Harbour completed and opened for traffic on 23 January 1922. The construction of brick arch underbridges occurred in two periods: 1892 for the duplication of the line from Granville to Picton, then from 1914 to 1922 mostly for main line duplications. The former had bricks supplied from private brickworks whereas the latter's supply came from the State Brickworks at Homebush. The construction of the Jubilee Park and Wentworth Park viaducts was the first large-scale project to use bricks from the State Brickworks.
Nevertheless, there is reason to believe that this may not hold true every time as shown by the following example. The human ATM gene is responsible for the human autosomal-recessive disorder ataxia- telangiectasia and is located on chromosome 11. However, a partial ATM sequence is found in chromosome 7. Molecular features suggest that this duplication was mediated by L1 retrotransposition: the derived sequence was flanked by 15bp target side duplications (TSD), the sequence around the 5' end matched with the consensus sequence for L1 endonuclease cleavage site and a poly(A) tail preceded the 3' TSD.
Growth hormone 1, also known as pituitary growth hormone or simply as growth hormone (GH) or somatotropin, is a protein that in humans is encoded by the GH1 gene. The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones that play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation, an arrangement thought to have evolved by a series of gene duplications. The five genes share a remarkably high degree of sequence identity.
The pericentromeric region on the Y chromosome is a 450kb euchromatin island between the satellite three sequence and the long arm of the chromosome. Whole genome assembly comparison experiments revealed that 80.2% of the pericentromeric sequence of the Y chromosome is composed of segmental duplications with 73.8% and 5.3% of the DNA duplicated interchromosomally and intrachromosomally respectively. It is estimated that it has a recent origin to within the last thirty million year of primate evolution. Further FISH testing confirms that the segment is highly duplicated and that the majority of the signals is located near the centromeric region of the chromosome.
Notable inclusions include a full size Parasaurolophus, an attack scene with two Allosaurus ganging up on a Diplodocus represented in full size skeletons, and a forty-six foot long Giganotosaurus skeletal reconstruction. The second floor's "Ancient Cultures" floor is separated by region with displays for Central Africa and New Guinea, followed by larger sections for ancient Egypt, Mesoamerica, and China which include duplications of King Tutankhamun's tomb, Terracotta Army soldiers, and Chichen Itza's temple of warriors, alongside dozens of authentic artifacts and taxidermy animals in display cases from both the indicated regions and neighboring areas up to 6,500 years before present.
Mutations are seen less frequently affecting domains I and II, both of which encode sections of the N-terminal region of the protein. RYR2 mutations associated with CPVT that occur outside these four domains are very rare, being responsible for as few as 10% of reported cases. RYR2 mutations are most often missense mutations, such as single nucleotide substitutions causing one amino acid to be replaced by another, although in-frame substitutions and duplications have been described. More damaging nonsense mutations have not been reported in association with CPVT, potentially because these variants may lead to different cardiac diseases such as cardiomyopathies.
This method involves technology to separate nucleated cells from red blood cells, which lack a nucleus. All nucleated cells, including normal white blood cells and CTCs, are exposed to fluorescent-tagged antibodies specific for cancer biomarkers. In addition, Epic's imaging system captures pictures of all the cells on the slide (approximately 3 million), records the precise coordinates of each cell, and analyzes each cell for 90 different parameters, including the fluorescence intensity of the four fluorescent markers and 86 different morphological parameters. Epic can also use FISH and other staining techniques to look for abnormalities such as duplications, deletions, and rearrangements.
They provided much sequencing data from many populations to analyze as well as a reference human genome for comparison and future studies. One study took advantage of this resource to question the structural variation differences between genomes from whole genome sequence data. It was known that human diseases are affected by duplications and deletions and that copy number analysis is common but multiallelic copy number variants (mCNVs) were not as well studied. The researchers got their data from the 1000 genomes project and analyzed 849 different genomes from a variety of populations that were sequenced in order to find large mCNVs.
The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. The five genes share a remarkably high degree of sequence identity. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. As in the case of its pituitary counterpart, growth hormone 1, the predominant isoform of this particular family member shows similar somatogenic activity, with reduced lactogenic activity.
President Obama Announces More Key Administration Posts Franklin (Lynn) M. Orr was sworn in as the Under Secretary for Science and Energy on December 17, 2014, and served in this position through the end of the Obama administration. Paul Dabbar is the current under secretary. The under secretary serves as the Secretary of Energy's Science and Technology advisor, monitors the Department of Energy's research and development programs, and advises the secretary on any gaps or duplications in them. The under secretary advises the secretary on the management and the state of the national laboratories overseen by the department.
Although some implementations of association lists disallow having multiple nodes with the same keys as each other, such duplications are not problematic for this search algorithm: duplicate keys that appear later in the list are ignored. It is also possible to delete a key from an association list, by scanning the list to find each occurrence of the key and splicing the nodes containing the key out of the list. The scan should continue to the end of the list, even when the key is found, in case the same key may have been inserted multiple times.
Dacia on Tabula Peutingeriana Unlike many other Dacian towns mentioned by Ptolemy, Ziridava is missing from Tabula Peutingeriana (1st–4th centuries), an itinerarium showing the cursus publicus, the road network in the Roman Empire. This prompted the Danish philologist and historian Gudmund Schütte to assume that Ziridava and Zurobara are one and the same. This idea is deemed erroneous alongside many other assumed duplications of names, by the Romanian historian and archaeologist Vasile Pârvan in his work Getica. Pârvan reviewed all localities mentioned in Ptolemy's Geographia, analyzing and verifying all data available to him at the time.
Superfamilies are identified by shared DNA sequence and ability to respond to the same transposase. Common features of hAT transposons include a size of 2.5-5 kilobases with short terminal inverted repeats and short flanking target site duplications generated during the transposition process. The hAT superfamily's name derives from three of its members: the hobo element from Drosophila melanogaster, the Activator or Ac element from Zea mays, and the Tam3 element from Antirrhinum majus. The superfamily has been divided based on bioinformatics analysis into at least two clusters defined by their phylogenetic relationships: the Ac family and the Buster family.
The first phase consists of applying an iterative algorithm to improve the accuracy of the location found by the grid search. In earlier versions of the program, Newton's method was used but analysis and experiment showed that Laguerre's method was both more robust and more accurate. Even though it required more calculation than Newton's method for each iteration, it converged in fewer iterations. The second phase of the second stage checks for duplications. A “fuzzy” uniqueness test is applied to each zero to eliminate any cases where on two or more prospective zeros, iterations converged to the same zero.
Similarly, he sees legal, compliance, standard banking documentation, procurement and mortgage processing as a priority for complete or partial automation. Further areas of interest are basic financial research solutions and solutions for know your customer (KYC) requirements such as client background checks. Due to the effort required to develop such systems, it is important for banks to closely cooperate in non-competing sectors, i.e. standardized solutions, preventing unnecessary duplications and increasing quality standards. He mentions the repositioning of SIX Group and their establishment of a “network services” innovation unit as a first step in the right direction.
Ac determines the mutation process and the mutable loci as well as their timing. Ac transposase does not influence transcription initiation site selection, and large numbers of Ac elements may inhibit the expression of Ds by reducing the rate of transcription initiation instead of affecting the transcription site selection. Ac transposase is also capable of suppressing gene expression when Ac or Ds inserts in 5’ untranslated region using target sites. Ac or Ds element insertion sites have been characterized by the presence of different direct duplications of 6-10 base pairs prior to insertions, indicating that Ac transposase may have preference for short duplication as insertion sites.
The role of the SNCA gene is significant in PD because the alpha-synuclein protein is the main component of Lewy bodies, which appear as a primary biomarker in the disease. Missense mutations of the gene (in which a single nucleotide is changed), and duplications and triplications of the locus containing it have been found in different groups with familial PD. Level of alpha-synuclein expression correlates with disease onset and progression, with SNCA gene triplication advancing earlier and faster than duplication. Missense mutations in SNCA are rare. On the other hand, multiplications of the SNCA locus account for around 2% of familial cases.
Bellen has pioneered the development of novel technologies that accelerate Drosophila research and are currently used by the majority of fly labs today. Bellen was a leader in the development of P element-mediated enhancer detection which allows for discovery and manipulation of genes and was the impetus for a collaborative and ongoing project to generate an insertion collection for the community. Furthermore, Bellen and colleagues devised a new transformation technology that permits site-specific integration of very large DNA fragments, which led to the generation of a collection of flies carrying molecularly defined duplications for more than 90% of the Drosophila X-chromosome. Hundreds of Drosophila researchers utilize this collection.
However, if the caudal cell mass is divided early, duplications of the distal bowel may still occur. In gastrointestinal abnormalities, a mechanism known as “caudal twinning” is proposed in which during the 23rd to 25th day of gestation, the intestinal tract is filled by rapid proliferation of endothelial cells, as the gut increases in size, vacuoles appear within the cell masses to constitute a single lumen. However, in abnormal cases where a vacuole is pinched off, a second lumen is created. The second lumen is then proposed to magnify in size in proportion to the growth of the colon, effectively duplicating all caudal structures distal from the point of separation.
These rearrangements have been shown to induce gene duplications and deletions that largely contribute to genome plasticity and dramatically change the dynamic of gene function. Furthermore, retroelements in general are largely prevalent in rapidly evolving, mammal-specific gene families whose function is largely related to the response to stress and external stimuli. In particular, both human class I and class II MHC genes have a high density of HERV elements as compared to other multi-locus-gene families. It has been shown that HERVs have contributed to the formation of extensively duplicated duplicon blocks that make up the HLA class 1 family of genes.
The mechanisms involved include gene conversion, unequal crossing-over, transposition, slippage replication and RNA-mediated exchanges. Because mutations changing the sequence of one copy are less common than deletions, duplications and replacement of one copy by another, the copies gradually come to resemble each other much more than they would if they had been evolving independently. Concerted evolution can be unbiased, in which case every version has an equal probability of being the one that replaces the others. However, if the molecular events have any bias favouring one version of the sequence over others, that version will dominate the process and eventually replace the others.
Gene duplications are an essential source of genetic novelty that can lead to evolutionary innovation. Duplication creates genetic redundancy, where the second copy of the gene is often free from selective pressure—that is, mutations of it have no deleterious effects to its host organism. If one copy of a gene experiences a mutation that affects its original function, the second copy can serve as a 'spare part' and continue to function correctly. Thus, duplicate genes accumulate mutations faster than a functional single- copy gene, over generations of organisms, and it is possible for one of the two copies to develop a new and different function.
In 2006 the glutamate receptor subunit gene GRIN2B (responsible for key functions in memory and learning) was associated with ADHD. This followed earlier studies showing a link between glutamate modulation and hyperactivity (2001), and then between the SLC1A3 solute carrier gene-encoding part of the glutamate transporter process that mapped to chromosome 5 (5p12) noted in multiple ADHD genome scans. Further mutations to four different metabotropic glutamate receptor genes were identified in a study of 1013 children with ADHD compared to 4105 controls with non-ADHD, replicated in a subsequent study of 2500 more patients. Deletions and duplications affected GRM1, GRM5, GRM7 and GRM8.
This results in deletions and duplications of dosage sensitive genes. It has been speculated that CNVs underlie a significant proportion of normal human variation, including differences in cognitive, behavioral, and psychological features, and that CNVs in at least three loci can result in increased risk for schizophrenia in a few individuals. Epigenetics may also play a role in schizophrenia, with the expression of Protocadherin 11 X-linked/Protocadherin 11 Y-linked playing a possible role in schizophrenia. A 2008 investigation of 2,977 schizophrenia patients and 33,746 controls from seven European populations examined CNVs in neurexins, and found that exon-affecting deletions in the NRXN1 gene conferred risk of schizophrenia.
Quebec was the first province to establish a true order: l'Ordre national du Quebec in 1984. The Saskatchewan Order of Merit was established in 1985. The Order of Ontario came in 1986, the Order of British Columbia in 1989 (which replaced the Order of the Dogwood), the Order of Prince Edward Island in 1997, the Order of Manitoba in 1999, and the Order of Nova Scotia, of New Brunswick, and of Newfoundland and Labrador in 2001. However, the federal government did not recognize these honours and decorations, fearing duplications and citing the fact that, aside from the Order of Newfoundland and Labrador, the Queen had not authorized them.
A Section of DNA that is larger than 1 kb and occurs in two or more copies per haploid genome, in which the different copies share greater than 90% of the same sequence, are considered to be segmental duplications or low-copy repeats. These are only a few of the several different types of structural variants that have been known to exist in the human genome. A table visualizing these different forms of structural variants, as well as others, is shown in Figure 1. An inversion is a section of DNA on a chromosome that is reversed in its orientation in comparison to the reference genome.
Four copies of this gene are found on chromosome Y within palindromic duplications; one pair of genes is part of the P2 palindrome and the second pair is part of the P1 palindrome. Each gene contains a 2.4 kb repeat including a 72-bp exon, called the DAZ repeat; the number of DAZ repeats is variable and there are several variations in the sequence of the DAZ repeat. Each copy of the gene also contains a 10.8 kb region that may be amplified; this region includes five exons that encode an RNA recognition motif (RRM) domain. This gene contains one copy of the 10.8 kb repeat.
During the period from 1910 to 1923, the New South Wales Government Railways embarked on a large programme of railway duplications; on the Main South line from Picton to Cootamundra, on the Main Western line from Bowenfels to Orange, on the Main Northern line from Farley to Branxton and on the Illawarra line from Waterfall to Wollongong. The dominant structure for the underbridges was the brick arch in single spans and multiple span viaducts. Concurrently, there were brick arches on the Metropolitan Goods Lines. However, there were sites where brick arches were not appropriate and Argyle Street, Moss Vale, on the Main South, was one of them.
Dacia on Tabula Peutingeriana Unlike many other Dacian towns mentioned by Ptolemy, Zurobara is missing from Tabula Peutingeriana (1st-4th century AD), an itinerarium showing the cursus publicus, the road network in the Roman Empire. The Danish philologist and historian Gudmund Schütte believed that the town with similar name Ziridava, also mentioned by Ptolemy and also missing from Tabula Peutingeriana, was the same with Zurobara. This idea is deemed erroneous alongside many other assumed duplications of names, by the Romanian historian and archaeologist Vasile Pârvan in his work Getica. Pârvan reviewed all localities mentioned in Ptolemy's Geographia, analyzing and verifying all data available to him at the time.
Four copies of this gene are found on chromosome Y within palindromic duplications; one pair of genes is part of the P2 palindrome and the second pair is part of the P1 palindrome. Each gene contains a 2.4 kb repeat including a 72-bp exon, called the DAZ repeat; the number of DAZ repeats is variable and there are several variations in the sequence of the DAZ repeat. Each copy of the gene also contains a 10.8 kb region that may be amplified; this region includes five exons that encode an RNA recognition motif (RRM) domain. This gene contains one copy of the 10.8 kb repeat.
The Hyogo - Himeji section was duplicated in 1899, and the Hiroshima - Kaitaichi section in 1903. After the line was nationalised, further duplications occurred between Kamigori - Yoshinaga in 1910/11, Hatabu - Shimonoseki in 1915 and Himeji - Agaho in 1917. Work to duplicate the remainder of the line commenced in 1921, and opened in stages until completed in 1930, with the exception of the section between Iwakuni and Kushigahama, where construction of a new direct line had commenced. This direct line, which bypassed the coastal section via Yanai involved significant tunnelling, and unexpected geological instability delayed completion of the line until 1934, and then as a single track.
RNA-Seq data may be directly assembled into transcripts using sequence assembly. Two main categories of sequence assembly are often distinguished: # de novo transcriptome assembly - especially important when a reference genome is not available for a given species. # Genome-guided assembly (sometimes mapping or reference-guided assembly) - is capable of using a pre-existing reference to guide the assembly of transcripts Both methods attempt to generate biologically representative isoform-level constructs from RNA-seq data and generally attempt to associate isoforms with a gene-level construct. However, proper identification of gene-level constructs may be complicated by recent duplications, paralogs, alternative splicing or gene fusions.
Although tetrapoidy was first proposed to be a reason for its high genome size and diploid chromosome number, Svartman et al. showed that the high genome size was due to the enormous amplification of heterochromatin. Although one single copy gene was found to be duplicated in its genome, data on absence of large genome segment duplications (single paints of most Octodon degu probes) and repetitive DNA hybridization evidence rules against tetraploidy. The study of heterochromatin composition, repeated DNA amount and its distribution on chromosomes of octodontids is absolutely necessary to define exactly what heterochromatin fraction is responsible for the large genomes of the red viscacha rat.
Accordingly, paternally expressed genes tend to be growth-promoting whereas maternally expressed genes tend to be growth-limiting. In support of this hypothesis, genomic imprinting has been found in all placental mammals, where post-fertilisation offspring resource consumption at the expense of the mother is high; although it has also been found in oviparous birds where there is relatively little post-fertilisation resource transfer and therefore less parental conflict. A small number of imprinted genes are fast evolving under positive Darwinian selection possibly due to antagonistic co-evolution. The majority of imprinted genes display high levels of micro-synteny conservation and have undergone very few duplications in placental mammalian lineages.
In cases of gene duplications that have no immediate fitness effect, a retention of the duplicate copy could still be possible if both copies accumulate mutations that for instance reduce the functional efficiency of the encoded proteins without inhibiting this function altogether. In such a case, the molecular function (e.g. protein/enzyme activity) would still be available to the cell to at least the extend that was available before duplication (now provided by proteins expressed from two gene loci, instead of one gene locus). However, the accidental loss of one gene copy might then be detrimental, since one copy of the gene with reduced activity would almost certainly lie below the activity that was available before duplication.
PIR was established in 1984 by the National Biomedical Research Foundation (NBRF) as a resource to assist researchers and customers in the identification and interpretation of protein sequence information. Prior to that, the NBRF compiled the first comprehensive collection of macromolecular sequences in the Atlas of Protein Sequence and Structure, published from 1964 to 1974 under the editorship of Margaret Dayhoff. Dayhoff and her research group pioneered in the development of computer methods for the comparison of protein sequences, for the detection of distantly related sequences and duplications within sequences, and for the inference of evolutionary histories from alignments of protein sequences. Winona Barker and Robert Ledley assumed leadership of the project after the death of Dayhoff in 1983.
Trap formation is induced in U. gibba by low phosphorus but not low nitrogen, indicating that phosphorus availability is more limiting in its environment. It had also been previously proposed that an increased mutation rate due to greater environmental mutagen exposure could have increased natural selection for loss of unneeded DNA, but no evidence for this was found in the relative mutational diversities of U. gibba and Arabidopsis. It is possible that the genome duplication events and low- phosphorus environment acted in concert with one another: that the three whole genome duplications that occurred in U. gibba enabled the selective pressure of a phosphorus poor environment to reduce total DNA without the deletion of important genes.
Somatic mosaicism arises a result of genomic (or even mitochondrial) alterations of different sizes ranging from a single nucleotide to chromosome gains or loss within somatic cells. These alterations within somatic cells begin at an early stage (pre- implantation or conception) and continue during aging, giving rise to phenotypic heterogeneity within cells, which may lead to the development of diseases such as cancer. Novel array based techniques for screening genome wide copy number variants and loss of heterozygosity in single cells showed that chromosome aneuploidies, uniparental disomies, segmental deletions, duplications and amplifications frequently occur during embryogenesis. Yet not all somatic mutations are propagated to the adult individual, due to the phenomenon of cell competition.
In August 2009, the luxury Missha Homme Urban Soul line was launched with higher quality and are more expensive than the existing two men's cosmetic lines. In August 2012, as part of Lotte Department Store's expansion programme into China, a replica of Seoul’s main shopping district Myeong-dong was featured in its new store in Tianjin, with outlets of Missha, The Face Shop and Skin Food. Missha products range from makeup, skin care, to body and hair products; such as All-Around Safe Block Soft Finish Sun Milk SPF 50, Cool Fitting Body Gel and Hot Burning Body Gel. Missha is also known for making high quality, lower cost duplications of more expensive brands.
Since the mid-1970s the highway has undergone significant upgrades that have included bypasses and deviations, duplications and grade separations, particularly between Burnie and Launceston. On 30 March 1977, ‘stage A’ of the ‘Burnie Highway System’ was opened to traffic. This stage connected the Bass Highway east of the town with Alexander Street by an elevated roadway over the port access road and rail lines.Report for year 1976–1977, Parliament of Tasmania, Department of Main Roads, 1978, p. 14 Shortly after, on 19 April 1977, the bypass of Devonport was completed with the opening of the final section between Middle Road, Devonport and Don, referred to in that year’s Main Roads Annual Report as the ‘Devonport to Don Freeway’.
In May 2009 the SBML team conducted a community survey for requests of potential further software development. It turned out that, even though the library libSBML provides a generated binding for the programming language Java™, its internal C code makes it difficult to implement platform independent or Web Start applications. Around that time, several groups from multiple institutes had already implemented small Java versions of libSBML, each being a customized library covering the needs of the particular research project. In order to avoid unnecessary duplications of work and to unify existing development, the international community project JSBML was launched in September 2009, mainly by groups from EBI, Caltech, and the University of Tübingen.
Six somatostatin genes have been discovered in vertebrates. The current proposed history as to how these six genes arose is based on the three whole-genome duplication events that took place in vertebrate evolution along with local duplications in teleost fish. An ancestral somatostatin gene was duplicated during the first whole-genome duplication event (1R) to create SS1 and SS2. These two genes were duplicated during the second whole-genome duplication event (2R) to create four new somatostatin genes:SS1, SS2, SS3, and one gene that was lost during the evolution of vertebrates. Tetrapods retained SS1 (also known as SS-14 and SS-28) and SS2 (also known as cortistatin) after the split in the Sarcopterygii and Actinopterygii lineage split.
A slight mutation in the matched nucleotides can lead to chromosomal aberrations and unintentional genetic rearrangement Although cells undergo multiple steps in order to ensure there are no mutations in the genetic sequence, sometimes specific deletions and other genetic changes during Okazaki fragment maturation go unnoticed. Because Okazaki fragments are the set of nucleotides for the lagging strand, any alteration including deletions, insertions, or duplications from the original strand can cause a mutation if it is not detected and fixed. Other causes of mutations include problems with the proteins that aid in DNA replication. For example, a mutation related to primase affects RNA primer removal and can make the DNA strand more fragile and susceptible to breaks.
An example of a 420x420px This technique relies on the assumption that the diversity of the genome is not only due to gene duplications but also to continuous frequent de novo gene births. These genes (called "founder genes") would form from non-genic DNA sequences, as well as from changes in reading frame (or other ways of arising from within existing genes), or even from very rapid evolution of the protein that would modify the sequence beyond recognition. These new genes would at first have high evolutionary rates that would then slow down with time, allowing us to recognise their lineage in their descendants. The founder genes can then be put in a specific phylostratum.
Ohno postulated that gene duplication plays a major role in evolution in his classic book Evolution by Gene Duplication (1970). While subsequent research has overwhelmingly confirmed the key role of gene duplication in molecular evolution, research to evaluate Ohno's model for the preservation of duplicate genes (now termed neofunctionalization) is ongoing and very active. He also discovered in 1956 that the Barr body of mammalian female nuclei was in fact a condensed X chromosome. In Evolution by Gene Duplication, he also suggested that vertebrate genome is the result of one or more entire genome duplications; variations of this idea have come to be known as the 2R hypothesis (also called "Ohno's hypothesis").
Other research has suggested that a greater than average number of structural variations such as rare deletions or duplications of tiny DNA sequences within genes (known as copy number variations) are linked to increased risk for schizophrenia, especially in "sporadic" cases not linked to family history of schizophrenia, and that the genetic factors and developmental pathways can thus be different in different individuals. A genome wide survey of 3,391 individuals with schizophrenia found CNVs in less than 1% of cases. Within them, deletions in regions related to psychosis were observed, as well as deletions on chromosome 15q13.3 and 1q21.1. CNVs occur due to non-allelic homologous recombination mediated by low copy repeats (sequentially similar regions).
The name derives from the 2 rounds of duplication originally hypothesized by Ohno, but refined in a 1994 version, and the term 2R hypothesis was probably coined in 1999. Variations in the number and timings of genome duplications typically still are referred to as examples of the 2R hypothesis. The 2R hypothesis has been the subject of much research and controversy; however, with growing support from genome data, including the human genome, the balance of opinion has shifted strongly in favour of support for the hypothesis. According to Karsten Hokamp, Aoife McLysaght and Kenneth H. Wolfe, the version of the genome duplication hypothesis from which 2R hypothesis takes its name appears in Holland et al.
Chromosome abnormalities can be numerical, as in the presence of extra or missing chromosomes, or structural, as in derivative chromosome, translocations, inversions, large- scale deletions or duplications. Numerical abnormalities, also known as aneuploidy, often occur as a result of nondisjunction during meiosis in the formation of a gamete; trisomies, in which three copies of a chromosome are present instead of the usual two, are common numerical abnormalities. Structural abnormalities often arise from errors in homologous recombination. Both types of abnormalities can occur in gametes and therefore will be present in all cells of an affected person's body, or they can occur during mitosis and give rise to a genetic mosaic individual who has some normal and some abnormal cells.
The researchers knew that copy number variation is important in genome structural variation and contributes to human genetic disease but the actual mechanisms of most of the new and few pathogenic copy number variants had not been known. They used sequencing technologies to sequence breakpoint areas of many rare pathogenic copy number variants which was the biggest and most in depth analysis of copy number variants. They saw that the genomic architectural features were very important in the human genome and they were associated with about eighty-one percent of breakpoints. They concluded that tandem duplications and microdeletions that are rare and pathogenic do not happen in the human genome by chance.
IL-1Ra regulates IL-1α and IL-1β proinflammatory activity by competing with them for binding sites of the receptor. Nine IL-1 superfamily members occur in a single cluster on human chromosome two; sequence and chromosomal anatomy evidence suggest these formed through a series of gene duplications of a proto-IL-1β ligand. In this way, IL-1β, IL-1α, IL-36α, IL-36β, IL-36γ, IL-36RA, IL-37, IL-38, and IL-1RA are very likely ancestral family members sharing a common lineage. However, IL-18 and IL-33 are on different chromosomes and there is insufficient sequence or chromosomal anatomy evidence to suggest they share common ancestry with the other IL-1 superfamily members.
Benchmarking sets of Universal Single-Copy Orthologs \- Orthologous groups are selected from OrthoDB for the root-level classifications of arthropods, vertebrates, metazoans, fungi, and other major clades. Groups are required to contain single-copy orthologs in at least 90% of the species (in others they may be lost or duplicated), and the missing species cannot all be from the same clade. Species with frequent losses or duplications are removed from the selection unless they hold a key position in the phylogeny. BUSCOs are therefore expected to be found as single-copy orthologs in any newly sequenced genome from the appropriate phylogenetic clade, and can be used to analyse newly sequenced genomes to assess their relative completeness.
The End of Roman Britain. p.71. - ..the repetitious entries for invading ships in the Chronicle (three ships of Hengest and Horsa; three ships of Ælle; five ships of Cerdic and Cynric; two ships of Port; three ships of Stuf and Wihtgar), drawn from preliterate traditions including bogus eponyms and duplications, might be considered a poetic convention. The chronicle describes how on landing Ælle slew the local defenders and drove the remainder into the Forest of Andred and then goes on to describe Ælle's battle with the British in 485 near the bank of Mercredesburne, and his siege of Pevensey in 491 after which the inhabitants were massacred.Anglo-Saxon Chronicle Parker MS. 485AD.
For example, carriers of the 16p11.2 deletion have a mean IQ 32 points lower than their first-degree relatives that do not carry the deletion, however only 20% are below the threshold IQ of 70 for intellectual disability, and only 20% have autism. Around 85% have a neurobehavioral diagnosis, including autism, ADHD, anxiety disorders, mood disorders, gross motor delay, and epilepsy, while 15% have no diagnosis. Alongside these neurobehavioral phenotypes, the 16p11.2 deletions / duplications have been associated with macrocephaly / microcephaly, body weight regulation, and the duplication in particular is associated with schizophrenia. Controls that carry mutations associated with autism or schizophrenia typically present with intermediate cognitive phenotypes or fecundity compared to neurodevelopmental cases and population controls.
This latter work led him to use graphite and charcoal instead of the previous India ink-rotogravure combination. Carbon was not only the surrogate of the toner used in photocopying machines, but at the same time the "historical" material utilised in operations involving the transformation and integration of a photocopied image. The photographic transfers used in the beginning as a quick solution for everyday duplications—temporary phases on glossy paper or on PVC—made Devalle realize that those "designs" were not only measurable shapes and transfers, but also "ready", autonomous, and definitive results. In 1976 he was appointed chair of Theory of Perception at the Brera Academy in Milan where he relocated in 1979.
Essentially, a SIM takes a discipline specific perspective to model complex connected systems, but can be integrated with a building information model when a single point of truth is formed. The traditional way of documenting the design of the connected system is to use 2D drawings that are created by draftsmen and consist of various views that must be used jointly to form an integrated design. As the drawings are created manually and the information for a component could be represented on several different drawings, the propensity for errors, omission, conflicts and duplications to materialize significantly increases. Since the mid 1970s, there has been a trend to replace the traditional manually drafted drawings with computer aided digital drawings.
As discussed in more detail below, phylogenetic methods range from simple methods merely identifying discordance between gene and species trees to mechanistic models inferring probable sequences of HGT events. An intermediate strategy entails deconstructing the gene tree into smaller parts until each matches the species tree (genome spectral approaches). Explicit phylogenetic methods rely upon the accuracy of the input rooted gene and species trees, yet these can be challenging to build. Even when there is no doubt in the input trees, the conflicting phylogenies can be the result of evolutionary processes other than HGT, such as duplications and losses, causing these methods to erroneously infer HGT events when paralogy is the correct explanation.
This is because balanced chromosomal abnormalities such as reciprocal translocations, inversions or ring chromosomes do not affect copy number, which is what is detected by CGH technologies. CGH does, however, allow for the exploration of all 46 human chromosomes in single test and the discovery of deletions and duplications, even on the microscopic scale which may lead to the identification of candidate genes to be further explored by other cytological techniques. Through the use of DNA microarrays in conjunction with CGH techniques, the more specific form of array CGH (aCGH) has been developed, allowing for a locus-by-locus measure of CNV with increased resolution as low as 100 kilobases.Pinkel D, Albertson DG (2005) Comparative genomic hybridization.
Special exhibitions either deal with local issues or feature travelling exhibitions. In case of local matters, the exhibitions concentrate on the town history including the development of industry, trade, traffic, culture, leisure time and formation. Corresponding to the focus of its collection regarding the history of medicine, exhibitions – either of the Stadtmuseum Gütersloh itself or of third parties - regularly take place in the town museum about this topic. Following a tradition, a toy exhibition is organized in the winter months, which attracts - according to gathered experiences – a tremendous number of visitors. The most successful exhibitions were: an exhibition showing duplications of Gyro Gearloose’s inventions, “Busy Girl – Barbie works her way up“, “Everybody’s constructing by using Lego“ and a “Käthe Kruse”-exhibition.
At least 2 other subsequent gene duplications occurred, which explains the different forms of Hsp90 found in fungi and vertebrates. One divergence produced cognate and heat-induced forms of Hsp90 in Saccharomyces cerevisiae, while the second gene duplication event in the cytosolic branch produced the alpha and beta subfamilies of sequences that are found in all vertebrates. In a phylogenetic tree based on Hsp90 sequences, it was found that plants and animals are more closely related to each other than to fungi. Similar to the Hsp90 protein, the gene for Hsp70 protein also underwent duplication at a very early stage in the formation of eukaryotic cells and the homologs in the cytosol and endoplasmic reticulum resulted from this gene duplication event.
Genome downsizing therefore facilitated higher rates of leaf gas exchange (transpiration and photosynthesis) and faster rates of growth. This would have countered some of the negative physiological effects of genome duplications, facilitated increased uptake of carbon dioxide despite concurrent declines in atmospheric CO2 concentrations, and allowed the flowering plants to outcompete other land plants. The earliest known macrofossil confidently identified as an angiosperm, Archaefructus liaoningensis, is dated to about 125 million years BP (the Cretaceous period), whereas pollen considered to be of angiosperm origin takes the fossil record back to about 130 million years BP, with Montsechia representing the earliest flower at that time. In 2018, scientists reported that the earliest flowers began about 180 million years ago, 50 million years earlier than thought earlier.
Its mRNA encodes for two proteins; one of them in particular has a reverse transcriptase and endonuclease activity that allows the retrotransposition in cis. Anyway most part of these copies are rendered immobile by mutations or 5’ truncation, leaving just about 80–100 mobile L1 per human genome and just about 10 are considered hot L1s so able to mobilize efficiently. L1 transpose using a mechanism called TPRT (target primed reverse transcription) it's able to insert a L1 endonuclease motif, target site duplications (TSD) and a poly-A tail with a cis preference. It has been seen in the past that there's L1 mobilization in neural progenitors during foetal and adult neurogenesis suggesting that the brain may be a L1 mosaicism hotspot.
In 1957 Joseph Gaer produced an abridged translation called The Jewish Bible for Family Reading. Influenced by biblical source criticism and the documentary hypothesis, Gaer moved all "duplications, specifications, detailed descriptions of rituals and genealogies" to a summary in an appendix; made a separate appendix summary of the Torah's "principal laws;" and omitted "all obvious redundancies."Joseph Gaer, "The Bible: Our Inheritance", The Jewish Bible for Family Reading, Thomas Yoseloff, 1957. Intended for the English reader with little or no knowledge of Hebrew, the text of The Jewish Bible for Family Reading is organized in brief sections with descriptive titles (such as "The Story of Creation" and "Isaac Takes a Bride") without the verse numbers that are typical of Bible translations.
Genomes are more than the sum of an organism's genes and have traits that may be measured and studied without reference to the details of any particular genes and their products. Researchers compare traits such as karyotype (chromosome number), genome size, gene order, codon usage bias, and GC-content to determine what mechanisms could have produced the great variety of genomes that exist today (for recent overviews, see Brown 2002; Saccone and Pesole 2003; Benfey and Protopapas 2004; Gibson and Muse 2004; Reese 2004; Gregory 2005). Duplications play a major role in shaping the genome. Duplication may range from extension of short tandem repeats, to duplication of a cluster of genes, and all the way to duplication of entire chromosomes or even entire genomes.
The other three human ParaHox genes are remnants from duplicated ParaHox gene clusters that were generated in the 2R genome duplications at the base of vertebrate evolution. Some vertebrates, notably chondrichthyan fish and coelacanths, have retained an additional ParaHox gene (PDX2). The ParaHox gene cluster has been proposed to be a paralogue, or evolutionary sister, of the Hox gene cluster; the two gene clusters being descendent from a segmental duplication early in animal evolution, preceding the divergence of cnidarians and bilaterian animals. It has been suggested that an ancient role of the ParaHox gene cluster in bilaterians was the specify or pattern the through- gut, with Gsx patterning the mouth, Xlox (=Pdx) patterning the midgut and Cdx marking the anus.
Mutations that inactivate the gene MECP2 cause Rett syndrome, which is associated with autistic behaviors in girls, and in boys the mutation is embryonic lethal. Besides these early examples, the role of de novo mutations in ASD first became evident when DNA microarray technologies reached sufficient resolution to allow the detection of copy number variation (CNV) in the human genome. CNVs are the most common type of structural variation in the genome, consisting of deletions and duplications of DNA that range in size from a kilobase to a few megabases. Microarray analysis has shown that de novo CNVs occur at a significantly higher rate in sporadic cases of autism as compared to the rate in their typically developing siblings and unrelated controls.
Structural variation is the variation in structure of an organism's chromosome. Structural variations, such as copy-number variation and deletions, inversions, insertions and duplications, account for much more human genetic variation than single nucleotide diversity. This was concluded in 2007 from analysis of the diploid full sequences of the genomes of two humans: Craig Venter and James D. Watson. This added to the two haploid sequences which were amalgamations of sequences from many individuals, published by the Human Genome Project and Celera Genomics respectively. According to the 1000 Genomes Project, a typical human has 2,100 to 2,500 structural variations, which include approximately 1,000 large deletions, 160 copy-number variants, 915 Alu insertions, 128 L1 insertions, 51 SVA insertions, 4 NUMTs, and 10 inversions.
He also examined six additional genera in the Madieae, and, with Layia representing 7 of the 10 genera in this tribe of the Asteraceae. Since he found that the duplicated cytosolic PGM were found in all the genera, he postulated that the duplication may have been present at the formation of this tribe, and hypothesized that examining PGM in other tribes may help understand phylogenic relationships in the Asteraceae. Further, he asserted that the discovery of duplicated genes in the tribe Madinae, along with the work of others, supported the view that duplicated genes in flowering plants was widespread. Additionally, since all such duplicated genes were unlinked, he favored the view that duplications were the result of overlapping reciprocal translocations rather than by unequal crossing-over.
There are currently 16 U.S. Routes—14 mainline routes and two official special routes—that exist entirely or partially in New York. In New York, U.S. Routes are mostly maintained by the New York State Department of Transportation (NYSDOT), with some exceptions. U.S. Routes in New York are generally directly referenced by NYSDOT with their number; however, the letter "U" is suffixed to the number of the route on reference markers and in internal documents if there is numerical duplication between a U.S. Route and a state route. Two such numerical duplications exist: U.S. Route 2 and New York State Route 2 (US 2 and NY 2; inventoried as "2U" and "2", respectively), and US 15 and NY 15 ("15U" and "15").
Production of mycotoxins or secondary metabolites by P. digitatum has not been observed although this species has been shown to be toxic to both shrimp and chicken embryos. With respect to fungicidal tolerance, there are known strains of P. digitatum resistant to various commonly used fungicides. Reports have been made concerning fungicides thiabendazole, benomyl, imazalil, sodium-o-phenylphenate as well as fungistatic agent, biphenyl, with no prior treatment required in the case of biphenyl. The mechanism of P. digitatum resistance to imazalil is suggested to lie in the over-expression of the sterol 14α-demethylase (CYP51) protein caused by a 199 base-pair insertion into the promoter region of the CYP51 gene and/or by duplications of the CYP51 gene.
As a result, they followed real history in developing these aspects, though making deformed versions of these weapons rather than duplications. The story and setting of the game were designed to not be gritty and serious, but to still be sophisticated. In order to ensure that the game was balanced, the designers had to play through maps several times to ensure that they were not unbalanced. However, Shimojo commented that once he became more astute at the game, it became hard for him to judge what it would be like for a novice to play, though he comments that his goal is to ensure that the difficulty level is right enough to allow the largest number of people to play it.
In eukaryotes there are six members of the tubulin superfamily, although not all are present in all species (see below).Findeisen P, Mühlhausen S, Dempewolf S, Hertzog J, Zietlow A, Carlomagno T, Kollmar M "Six subgroups and extensive recent duplications characterize the evolution of the eukaryotic tubulin protein family" Genome Biol Evol (2014) 6:2274-2288.Turk E, Wills AA, Kwon T, Sedzinski J, Wallingford JB, Stearns T "Zeta-Tubulin Is a Member of a Conserved Tubulin Module and Is a Component of the Centriolar Basal Foot in Multiciliated Cells" Current Biology (2015) 25:2177-2183. Both α and β tubulins have a mass of around 50 kDa and are thus in a similar range compared to actin (with a mass of ~42 kDa).
Cernat, Avangarda, p.383 Simona Vasilache likens it to "an Odyssey covering some twenty lines", "a misalliance of heroism and pilferage" with echoes from Urmuz's hero Ion Luca Caragiale. Simona Vasilache, "Mica Odisee", in România Literară, Nr. 22-23/2010 "A Little Metaphysics and Astronomy", which is structured like a treatise, opens with a pun on the creation narrative, postulating that God created fingerspelling before "the Word", and venturing to suggest that "the heavenly bodies", like abandoned children, are in fact nobody's creation, that their spin is really a form of attention seeking. Here, Urmuz questions the possibility of a single cause in the universe, since God's interest is in unnecessary duplications or multitudes in stars, men and fish species.
Thus, this provided an example of how an ancestral ligand-dependent receptor could lose its ability to bind ligands. A combination of this recent evidence, as well as an in-depth study of the physical structure of the nuclear receptor ligand binding domain has led to the emergence of a new hypothesis regarding the ancestral state of the nuclear receptor. This hypothesis suggests that the ancestral receptor may act as a lipid sensor with an ability to bind, albeit rather weakly, several different hydrophobic molecules such as, retinoids, steroids, hemes, and fatty acids. With its ability to interact with a variety of compounds, this receptor, through duplications, would either lose its ability for ligand-dependent activity, or specialize into a highly specific receptor for a particular molecule.
The number of two-component systems present in a bacterial genome is highly correlated with genome size as well as ecological niche; bacteria that occupy niches with frequent environmental fluctuations possess more histidine kinases and response regulators. New two-component systems may arise by gene duplication or by lateral gene transfer, and the relative rates of each process vary dramatically across bacterial species. In most cases, response regulator genes are located in the same operon as their cognate histidine kinase; lateral gene transfers are more likely to preserve operon structure than gene duplications. The small number of two-component systems present in eukaryotes most likely arose by lateral gene transfer from endosymbiotic organelles; in particular, those present in plants likely derive from chloroplasts.
The companies paid at least R $ 35 million in fees to achieve these changes in contracts. The estimated diversion of money in the toll system amounts to R $ 8.4 billion. Some of those cited by the MPF to receive these fees are: Jaime Lerner, Roberto Requião and Beto Richa, all former governors of the State of Paraná, and the concessionaires Rodonorte, Econorte, Ecovia, Ecocataratas, Caminhos do Paraná and Viapar. Veja as obras que "sumiram" dos contratos com concessionárias do Paraná For the next concession, to take place in 2021, the Federal Government, under the command of Jair Bolsonaro, and the Government of the State of Paraná, under the command of Ratinho Jr., intend, together, adopt a model with lower tariffs, ensure that duplications occur quickly, and also ensure transparency in spending.
Errors in crossover are especially likely when similar sequences cause partner chromosomes to adopt a mistaken alignment making some regions in genomes more prone to mutating in this way. These errors create large structural changes in DNA sequence—duplications, inversions or deletions of entire regions, or the accidental exchanging of whole parts between different chromosomes (called translocation). Mutation can result in several different types of change in DNA sequences; these can either have no effect, alter the product of a gene, or prevent the gene from functioning. Studies in the fly Drosophila melanogaster suggest that if a mutation changes a protein produced by a gene, this will probably be harmful, with about 70 percent of these mutations having damaging effects, and the remainder being either neutral or weakly beneficial.
His subsequent discoveries of similar ancient genome duplications (paleopolyploidy) during human evolution, and in almost all families of flowering plants, led to the realisation that whole-genome duplication is widespread. His group also studies the origin and evolution of mating systems in yeasts, and the process of mating-type switching in which one cell type can change into another by moving or replacing a section of chromosome. Wolfe was a postdoctoral researcher with Jeffrey D. Palmer at Indiana University Bloomington before returning to Ireland in 1992 to establish his research group in the Genetics Department of Trinity College Dublin, where he has remained for over 20 years. his most highly cited peer reviewed papers have been published in leading scientific journals including Nature, PNAS, The Plant Cell, Genome Research and Nature Reviews Genetics.
On the basis of sequenced environmental samples it is estimated that the group has between 1200 and 1500 species – more than previously estimated. Among the 1012 taxa only a few species are common: 305 species were discovered in a single location or groupings, a further 258 species were found in a few areas between 2–20 times, and only 446 were common in several locations with over 20 discoveries. Reclassifications encounter problems because the Myxogastriae are morphologically very plastic, which is to say susceptible to environmental influences; only a few characteristics are diagnostic for a small number of species. In the past authors have unsuccessfully tried to describe a new taxon based on a small number of examples, but this leads to numerous duplications, sometimes even at genus level.
De Vries's theory was one of the chief contenders for the explanation of how evolution worked, leading, for example, Thomas Hunt Morgan to study mutations in the fruit fly, until the modern evolutionary synthesis became the dominant model in the 1930s. During the early decades of the twentieth century, de Vries' theory was enormously influential and continued to fascinate non- biologists long after the scientific community had abandoned it. The large- scale primrose variations turned out to be the result of various chromosomal abnormalities, including ring chromosomes, balanced lethals and chromosome duplications (polyploidy), while the term mutation now generally is restricted to discrete changes in the DNA sequence. However, the popular understanding of "mutation" as a sudden leap to a new species has remained a staple theme of science fiction, e.g.
In collaboration with Yoko Satta and Naoyuki Takahata, they developed a method for estimating the evolutionary rates of the Mhc genes and demonstrated that the rate was close to the average rate of most non-Mhc genes, and they provided evidence that the Mhc genes are subject to balancing selection. They also provided evidence that the selection leads to the independent, repeated emergence of similar or identical short sequence motifs by convergent evolution. Klein himself has long championed the view that this mechanism and mechanisms similar to it, rather than the generally favored "gene conversion", explained the origin of the motifs. Klein's group demonstrated that during its evolution, the Mhc undergoes repeated rounds of expansion and contraction by gene duplications and deletions –in Klein's terminology, an accordion mode of evolution.
The Gaining New Insights by Detecting Adverse Event Anomalies Using FDA Open Data Challenge engaged data scientists to use unsupervised ML and AI techniques to identify anomalies in FDA adverse events, regulated product substances, and clinical trials data, essential for improving the mission of FDA. The Truth Challenge V2 assessed variant calling pipeline performance in difficult-to-map regions, segmental duplications, and Major Histocompatibility Complex (HMC) using Genome in a Bottle human genome benchmarks. The COVID-19 Risk Factor Modeling Challenge, in collaboration with the Veterans Health Administration, called upon the scientific and analytics community to develop and evaluate computational models to predict COVID-19 related health outcomes in Veterans. In total, ten community challenges have been completed on precisionFDA, which have generated a total of 562 responses from 240 participants.
In terms of the structural architecture of copy number variations, research has suggested and defined hotspot regions in the genome where copy number variations are four times more enriched. These hotspot regions were defined to be regions containing long repeats that are 90–100% similar known as segmental duplications either tandem or interspersed and most importantly, these hotspot regions have an increased rate of chromosomal rearrangement. It was thought that these large-scale chromosomal rearrangements give rise to normal variation and genetic diseases, including copy number variations. Moreover, these copy number variation hotspots are consistent throughout many populations from different continents, implying that these hotspots were either independently acquired by all the populations and passed on through generations, or they were acquired in early human evolution before the populations split, the latter seems more likely.
The companies paid at least R $ 35 million in fees to achieve these changes in contracts. The estimated diversion of money in the toll system amounts to R $ 8.4 billion. Some of those cited by the MPF to receive these fees are: Jaime Lerner, Roberto Requião and Beto Richa, all former governors of the State of Paraná, and the concessionaires Rodonorte, Econorte, Ecovia, Ecocataratas, Caminhos do Paraná and Viapar. Veja as obras que "sumiram" dos contratos com concessionárias do Paraná For the next concession, to take place in 2021, the Federal Government, under the command of Jair Bolsonaro, and the Government of the State of Paraná, under the command of Ratinho Jr., intend, together, adopt a model with lower tariffs, ensure that duplications occur quickly, and also ensure transparency in spending.
Page depicting Constantinople with added hand-colouring The large workshop of Michael Wolgemut, Nuremberg's leading artist in various media, provided the unprecedented 1,809 woodcut illustrations (before duplications are eliminated; see below). Sebastian Kammermeister and Sebald Schreyer financed the printing in a contract dated March 16, 1492, although preparations had been well under way for several years. Wolgemut and his stepson Wilhelm Pleydenwurff were first commissioned to provide the illustrations in 1487-88, and a further contract of December 29, 1491, commissioned manuscript layouts of the text and illustrations. Albrecht Dürer was an apprentice with Wolgemut from 1486 to 1489, so may well have participated in designing some of the illustrations for the specialist craftsmen (called "formschneiders") who cut the blocks, onto which the design had been drawn, or a drawing glued.
In 2009, it was proposed that the larger brain size conferred by a high number of Olduvai domain copies in humans carried an evolutionary advantage which led to the persistence and maintenance of Olduvai copies within this high range. At the same time, the Olduvai domains, like many other repetitive genetic elements, are highly susceptible to increases and decreases in number of copies, through duplications or deletions, and the researchers referenced various studies from 2005 to 2009 that found that a higher number of copies contributed to autism severity while a lower number contributed to schizophrenia severity. Since these disorders are fairly common among humans, it was proposed that this explained their prevalence. This model was elaborated on in more detail in a 2018 article that included one of the original authors, in light of new evidence in the intervening years.
In August 2017, Bill Gray reviewed the second edition for Wargamer, and stated that "Rich Hasenauer started a revolution of sorts in the tabletop (historical miniature) wargaming world" with the first edition of Fire and Fury. Gray pointed out that the original edition was one of the first games to have the full color, filled with photographs style rule-book that has dominated the market since then, and that it has "spawned dozens of duplications." In reviewing the second edition, Gray found much to like, including the replacement of the original black and white diagrams with full-color illustrations. He felt that the second edition had retained all of the important elements of the first edition that had been so ground-breaking — "game processes that made F&F; so unique and so popular remain solidly intact" — while adding several significant improvements.
From the 23rd to 25th day of gestation, the spinal cord develops except for its distal-most aspect where the notochord and neural tube are joined to form the caudal cell mass. The canal of Kovalevsky crosses the caudal cell mass, while endoderm located anteriorly to the cell mass develops into the hindgut, various insults towards the cell mass and hindgut during the stage of development may lead to the development of caudal anomalies, one of which is caudal duplication syndrome. The incomplete regression of Kovalevsky’s canal may also lead to formations of fibrous bands joining the hindgut to the spinal canal, possibly leading to the onset of diastemetaomyelia. These bands may divide the notochord, developing into duplications of the lower spine and spinal cord, the adjacent mesoderm is also divided, resulting in duplicates of GI and GU tracts.
Among Flora's early goals was the edition of the writings of his model, of the far too early deceased Norwegian Stein Rokkan. But the idea to publish the collected works of Rokkan was given up, with respect to the fact that Rokkan's publications hid many duplications. Thus, supported by his colleagues Stein Kuhnle and Derek Urwin, they decided to reconstruct from Rokkan's scientific work the essentials of his theory of Europe and to bundle them in the sense of a theory of European state and nation formation. In order to achieve this goal, first all publications of Rokkan's publications were collected and made machine-readable by scanning them (building what is today the Stein Rokkan- archive), with the intention to produce a summarizing book (State Formation, Nation-Building, and Mass Politics in Europe: The Theory of Stein Rokkan.
Modern critical scholars have sometimes argued that Daniel's prayer in verses 3–19 is secondary to chapter 9, as it contrasts sharply with the difficult Hebrew that is characteristic of Daniel. Still, it might be that the author(s) of the chapter incorporated (or adapted) a traditional prayer in the course of composition, in which case the prayer would not be a later addition. Proponents of the view that the prayer is secondary argue that (1) the context requires a prayer of illumination and not a communal confession of sin, and (2) the beginning and end of the prayer are marked by duplications in verses 3-4a and verses 20-21a that are most plausibly interpreted as redactional seams. However, these considerations have not proved decisive, and arguments in favor of the prayer's authenticity have also been advanced.
Sometimes, large regions of chromosomes share gene content similar to other chromosomal regions within the same genome. They are well characterised in the human genome, where they have been used as evidence to support the 2R hypothesis. Sets of duplicated, triplicated and quadruplicated genes, with the related genes on different chromosomes, are deduced to be remnants from genome or chromosomal duplications. A set of paralogy regions is together called a paralogon. Well- studied sets of paralogy regions include regions of human chromosome 2, 7, 12 and 17 containing Hox gene clusters, collagen genes, keratin genes and other duplicated genes, regions of human chromosomes 4, 5, 8 and 10 containing neuropeptide receptor genes, NK class homeobox genes and many more gene families, and parts of human chromosomes 13, 4, 5 and X containing the ParaHox genes and their neighbors.
In addition, there are several MAPKs in both fungi and animals, whose origins are less clear, either due to high divergence (e.g. NLK), or due to possibly being an early offshoot to the entire MAPK family (ERK3, ERK4, ERK7). In vertebrates, due to the twin whole genome duplications after the cephalochordate/vertebrate split, there are several paralogs in every group. Thus ERK1 and ERK2 both correspond to the Drosophila kinase rolled, JNK1, JNK2 and JNK3 are all orthologous to the gene basket in Drosophila. Although among the p38 group, p38 alpha and beta are clearly paralogous pairs, and so are p38 gamma and delta in vertebrates, the timing of the base split is less clear, given that many metazoans already possess multiple p38 homologs (there are three p38-type kinases in Drosophila, Mpk2(p38a), p38b and p38c).
A series of gene duplications of a single eukaryote LSm gene resulted in most (if not all) of the known eukaryote LSm genes. Each of the seven Sm proteins has greater amino acid sequence homology to a corresponding Lsm protein than to the other Sm proteins. This suggests that an ancestral LSm gene duplicated several times, resulting in seven paralogs. These subsequently diverged from each other so that the ancestral homoheptamer LSm ring became a heteroheptamer ring. Based on the known functions of LSm proteins in eukaryotes and archaea, the ancestral function may have been processing of pre-ribosomal RNA, pre- transfer RNA, and pre-RNase P. Then, according to this hypothesis, the seven ancestral eukaryote LSm genes duplicated again to seven pairs of Sm/LSm paralogs; LSm1/SmB, LSm2/SmD1, LSm3/SmD2, LSm4/SmD3, LSm5/SmE, LSm6/SmF and LSm7/SmG.
In 1990, Konopka collaborated with Mitchell S. Dushay and Jeffery C. Hall to further investigate the effects of the clock gene in D. melanogaster. Konopka had noted in 1987 that the Clock (Clk) mutant, induced via chemical mutation, was a semidominant mutation that shortened the rhythm of locomotor activity in flies by around 1.5hr. Dushay, Konopka and Hall noted that Clk mutants had phase response curve that was shortened from 24hr to 22.5hr, and that the short period was also observable in the eclosion rhythm of the mutant flies. Clk was mapped close enough to the per01 mutation such that it could be considered a per allele, but due to the presence normal courtship song rhythms in Clk males and the lack of coverage of its effects via duplications, Dushay and Konopka determined that Clock was a novel circadian mutation.
He immediately began to liquidate unprofitable ventures, eliminate duplications, and force the various branches to do business under the ATF name instead of retaining their former ones. Linn Boyd Benton's son, Morris Fuller Benton, was given the job of purging obsolete and duplicated type faces from the catalogs, and standardizing the point size and base-line of the types made. Nelson, realizing that display and advertising type (rather than the body type that was set so efficiently by the new line- casters) would be the mainstay of the foundry type business, immediately began an extensive advertising campaign and commissioned the production of new type designs. Joseph W. Phinney was put in charge of the design department and he supervised the introduction of Cushing, Howland, Bradley, and the William Morris inspired Satanick and Jenson Oldstyle, the last of these being hugely successful.
FIPA has two known genetic causes, mutations in the AH receptor-interacting protein (AIP) gene and duplications in chromosome Xq26.3 that include the GPR101 gene that also causes X-linked acrogigantism (X-LAG) syndrome. About 15-20% of FIPA families carry a germline AIP gene mutation or deletion, and the disease occurs as autosomal dominant with incomplete penetrance, meaning that about 20% of AIP mutation carriers will develop a pituitary adenoma. AIP mutation associated pituitary adenomas (either presenting as FIPA or as individual, non familial cases) are usually growth hormone secreting (acromegaly) or prolactin secreting (prolactinoma) adenomas that are large (macroadenomas) and often occur in children, adolescents and young adults. Daly and colleagues showed that acromegaly cases with AIP mutations occurred about 20 years before acromegaly cases without AIP mutations and these tumors are large and relatively treatment resistant.
The English Settlements, Chapter 5: Saxons, Angles and Jutes on the Saxon Shore If the Anglo-Saxon Chronicle is to be believed, the various Anglo-Saxon kingdoms which eventually merged to become England were founded when small fleets of three or five ships of invaders arrived at various points around the coast of England to fight the sub-Roman British, and conquered their lands.Jones. The End of Roman Britain. p. 71. – ..the repetitious entries for invading ships in the Chronicle (three ships of Hengest and Horsa; three ships of Aella; five ships of Cerdic and Cynric; two ships of Port; three ships of Stuf and Wihtgar), drawn from preliterate traditions including bogus eponyms and duplications, might be considered a poetic convention. The language of the migrants, Old English, came over the next few centuries to predominate throughout what is now England, at the expense of British Celtic and British Latin.
In 2012, a genetic explanation for the high instability and persistence of the Olduvai-containing regions was put forward: it was found that the HLS Olduvai domains had been affected by a known pericentric inversion (in which the region around a chromosome's centromere inverts) that occurred between 1p11.2 and 1q21.2 in the human lineage after the separation from chimpanzees. This was theorised to have contributed to their hyper- amplification specifically in humans, because pairs of chromosomes in which one contains a pericentric inversion and the other does not (a form of heterozygosity) have difficulties in recombination which can lead to non- allelic homologous recombination, in which deletions and duplications are much more propense to occur. This, combined with the fact that higher copies of Olduvai domains may have had an evolutionary advantage, could've resulted in the rapid duplication and persistence of Olduvai domains in humans.
In the arts, an opus number usually denotes a work of musical composition, a practice and usage established in the seventeenth century when composers identified their works with an opus number. In the eighteenth century, publishers usually assigned opus numbers when publishing groups of like compositions, usually in sets of three, six or twelve compositions. Consequently, opus numbers are not usually in chronological order, unpublished compositions usually had no opus number, and numeration gaps and sequential duplications occurred when publishers issued contemporaneous editions of a composer’s works, as in the sets of string quartets by Joseph Haydn (1732–1809) and Ludwig van Beethoven (1770–1827); Haydn's Op. 76, the Erdödy quartets (1796–97), comprises six discrete quartets consecutively numbered Op. 76 No. 1 – Op. 76 No. 6; whilst Beethoven's Op. 59, the Rasumovsky quartets (1805–06), comprises String Quartet No. 7, String Quartet No. 8, and String Quartet No. 9.
To pass the time, he decided to create an accurate map of the region.Azara, 1:39. On these expeditions, Azara began observing the nature of the region. Over the course of his time there, he "described 448 birds...This number is reduced to 381 when duplications of sex, age, and plumage are taken into account (eight remain unidentified), and 178 of them are the types upon which the scientific names are based.”Beddall, Barbara. “Isolated Spanish Genius: Myth or Reality: Felix de Azara and the Birds of Paraguay.” Journal of the History of Biology 16, no. 2 (1983): 228. He also identified 78 quadrupeds, 43 of which were new.Beddall, “Isolated Spanish Genius," 228. A number of animals were named after him, including Azara's night monkey (Aotus azarae), Azara's agouti (Dasyprocta azarae), Azara's grass mouse (Akodon azarae), Azara's spinetail (Synallaxis azarae), and Azara's tree iguana (Liolaemus azarai ).
The executors of his estate were unable to find such a document among his posthumous papers. In the 17th century, Sir Isaac Newton, examining the current chronology of Ancient Greece, Ancient Egypt and the Ancient Near East, expressed discontent with prevailing theories and in The Chronology of Ancient Kingdoms Amended proposed one of his own, which, basing its study on Apollonius of Rhodes's Argonautica, changed the traditional dating of the Argonautic Expedition, the Trojan War, and the Founding of Rome. In 1887, Edwin Johnson expressed the opinion that early Christian history was largely invented or corrupted in the 2nd and 3rd centuries. In 1909 Otto Rank made note of duplications in literary history of a variety of cultures: > almost all important civilized peoples have early woven myths around and > glorified in poetry their heroes, mythical kings and princes, founders of > religions, of dynasties, empires and cities—in short, their national heroes.
Boyd Tonkin, in his Independent profile on McCarthy, picks up on the notion that literature itself is a series of repetitions and duplications. At least one critic has connected McCarthy's work to "failed transcendence", and McCarthy has used the term failed transcendence in interviews to describe the collapse of the idealist project in philosophy, art and literature. Failed transcendence forms a central tenet of 'The New York Declaration on Inauthenticity', an INS talk delivered in the style of a propaganda statement by McCarthy and the philosopher Simon Critchley in 2007 in the Drawing Center, New York. In a discussion with the artist Margarita Gluzberg, held in 2001 in London's Austrian Cultural Forum, McCarthy cites Georges Bataille's description of matter as "that non-logical difference that represents in relation to the economy of the universe what crime represents in relation to the economy of the law".
When US highways were added in 1926, the US designations were simply overlaid over the preexisting state route (SR) designations in a method similar to modern Georgia (the state route was included in signage as well). Other routes were added as time went on, numbered in consecutive fashion, starting with LA 99 in 1924. By 1926 there were 162 defined routes; by 1929, 490. The number of routes increased precipitously during the Huey Long era, with 1325 routes defined by 1930 and more to come. A few routes were given "half" numbers, such as LA 99½ and LA 1315½, for reasons perhaps related to numerical duplications in the official legal descriptions of the routes. (LA 99½, which had been jokingly referred to as "the left lane of 100," was redesignated in the pre-1955 era, as LA 2203.) The pre-1955 system eventually reached the 22xx numeric range (or so) at its zenith. There were also "C-xxxx" roads, the purpose of which is unclear.
A change of guanine nucleotide exchange factor activity may influence the regulation of actin cytoskeleton organization and neuronal development in the brain by reduced activation of the ARF6 substrate or a defect in the GTP- binding activity. Two intragenic duplications predicted to cause termination mutations on the X-chromosome involving IQSEC2 were identified in two de novo cases, and one nonsense mutation was described in three additional male patients presenting severe intellectual disability and additional clinical features including neonatal hypotonia, delayed motor skills, seizures, strabismus, autistic-like behavior, stereotypic midline hand movements, microcephaly, little-to-no walking, little-to-no language skills, significant behavioral issues, and mildly abnormal facial features. A novel de novo mutation in the IQSEC2 gene identified through diagnostic exome sequencing showed significant developmental delay, seizures, hypotonia, vision impairments, plagiocephaly, autistic-like features, absent language skills, and abnormal MRI findings. IQSEC2 gene plays a larger role in the cause of X-linked cognitive impairment than previously thought.
Because the PSF sample includes only one culture (that met data quality criteria) randomly selected from each of 60 macro-culture areas around the world, correlations and other statistical results are likely to be trustworthy and functional, not due to duplications in the sample because of random diffusion or common ancestry. From 2000 on, eHRAF World Cultures has included additional randomly selected cases that may be added to the PSF for scientific sampling (called the Simple Random Sample). The Standard Cross-Cultural Sample of 186 societies also stratified the world into culture areas and then chose one society per culture area, but it differs from the PSF in that 200 culture areas were used and the choice of a society was based on judgmental rather than random selection. eHRAF Archaeology includes an annually-growing Simple Random Sample (SRS) of archaeological traditions drawn from the Outline Of Archaeological Traditions that can be used for hypothesis-testing.
This article lists the feast days of the General Roman Calendar as approved on 25 July 1960 by Pope John XXIII's motu proprio Rubricarum instructum and promulgated by the Sacred Congregation of Rites the following day, 26 July 1960, by the decree Novum rubricarum. This 1960 calendar was incorporated into the 1962 edition of the Roman Missal, continued use of which Pope Benedict XVI authorized in the circumstances indicated in his 7 July 2007 motu proprio Summorum Pontificum. Novum rubricarum replaced the former classifications of Doubles, Semidoubles, and Simples with I, II, and III class feasts and commemorations. It removed a few feasts, in particular duplications such as the Feast of the Cross (3 May and 14 September), the Chair of Peter (18 January and 22 February), Saint Peter (1 August and 29 June), Saint John the Evangelist (6 May and 27 December), Saint Michael (8 May and 29 September), and Saint Stephen (3 August and 26 December).
Nancy Maizels and Alan M. Weiner: The Genomic Tag Hypothesis – What Molecular Fossils Tell Us about the Evolution of tRNA, in: The RNA World, Second Edition. 1999 Cold Spring Harbor Laboratory Press /99, PDF Genomic tRNA content is a differentiating feature of genomes among biological domains of life: Archaea present the simplest situation in terms of genomic tRNA content with a uniform number of gene copies, Bacteria have an intermediate situation and Eukarya present the most complex situation. Eukarya present not only more tRNA gene content than the other two kingdoms but also a high variation in gene copy number among different isoacceptors, and this complexity seem to be due to duplications of tRNA genes and changes in anticodon specificity . Evolution of the tRNA gene copy number across different species has been linked to the appearance of specific tRNA modification enzymes (uridine methyltransferases in Bacteria, and adenosine deaminases in Eukarya), which increase the decoding capacity of a given tRNA.
This will not only help eliminate duplications at the command and control levels, but will also contribute to an increased centralization of the command and control system, the multi-functionality of the command and control elements, and effectiveness of response to the change of air conditions. 2006 saw the definition of the functions and tasks, organization and work of the C2 and Warning Center as well as the mechanism of interaction with the establishment of the Air Operations Center and Joint Operational Command. During the command and staff exercise one of the Air Force Commands has in effect performed control of "C2 and Warning Center – formation (unit)" level. The An-24 and An-26 aircraft, as well as the anti-aircraft systems S-300 and "Buk M1", have been continually modernized, and their service life has been extended. An organizational basis and technological means for modernizing MiG-29, Su-24, Su-25, Su-27, L-39 has been produced.
The Introduction to Deuteronomy: Part I and Further Chapters (Hebrew: 1988) grew out of notes distributed to students of Bible at the Hebrew University in the wake of the Yom Kippur war (1973), because of the teacher's and the students' absence from classes. This Introduction attempts at describing the contents of Deuteronomy and its structure which mainly consists of two covenants: Horeb (4:44 - 28:68 + 30: 1 - 10) and the one in the Land of Moab (28: 69 – 30: 20). The latter covenant has a clear affinity to vassal treaties, mainly Hittite, of the Second Millennium BCE. Rofés enquiry, however, is principally not comparative, but internal; it seeks to uncover the history of Deuteronomy, especially its legal corpus, by dwelling on its duplications and contradictions. Thus the various layers have been exposed: first, prae- Deuteronomic inherited material, then Deuteronomic legislation that preceded the Josiah reform of 622 BCE, further an additional, later layer from the time of the reform itself, finally a post-reform layer that supplemented and interpreted the earlier legislation.
Catholic Encyclopedia, article Martyrology The main source was the Martyrology of Usuard, completed by the "Dialogues" of Pope Gregory I and the works of some of the Fathers, and for the Greek saints by the catalogue known as the Menologion of Sirlet. Its origins can be traced back to the Martyrologium Hieronymianum, which was originally based on calendars of Roman, African and Syrian provenance, but to which were gradually added names of many saints from other areas, resulting in a number of duplications, fusions of different saints into one, and other mistakes.Congregation for Divine Worship and the Discipline of the Sacraments, Decree Victoriam paschalem, 29 June 2001 Very soon, in 1586 and again in 1589, revised editions were published with corrections by Caesar Baronius along with indications of the sources on which he drew, and in 1630 Pope Urban VIII issued a new edition. 1748 saw the appearance of a revised edition by Pope Benedict XIV, who personally worked on the corrections: he suppressed some names, such as those of Clement of Alexandria and Sulpicius Severus, but kept others that had been objected to, such as that of Pope Siricius.
In the early 1980s Crabtree worked with Albert J. Fornace Jr. to use early bioinformatics approaches to identify remnants of transposition events (rearrangements) in the human genome Fornace AJ, Cummings DE, Comeau CM, Kant JA, Crabtree GR. Single copy inverted repeats associated with regional duplications in gamma fibrinogen and immunoglobulin genes. Science. 224(4645): 161-164, 1984. . and to discover the HNF1 transcription factor.Courtois G, Morgan JG, Campbell LA, Fourel G, Crabtree, GR. Interaction of a liver-specific nuclear factor with the fibrinogen and alpha1- antitrypsin promoters. Science. 238(4827): 688-692, 1987. . In 1982 Crabtree discovered that one gene could produce more than one proteinKant JA, Crabtree GR. Alternative mRNA splicing patterns produce the gamma A and gamma B chains of fibrinogen. Cell. 31(1): 159-166, 1982.. thereby demonstrating that the coding capability of the genome is larger than expected and breaking the long-held dictum: “one gene; one protein”. In the late 1980s and early 1990s Crabtree, along with Stuart Schreiber defined the Ca2+/calcineurin/ NFAT signaling pathway,Shaw JP, Utz PJ, Durand DB, Toole JJ, Emmel EA, Crabtree GR. Identification of a putative regulator of early T cell activation genes. Science. 241(4862): 202-205, 1988. .

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