Later research by Dr. Rowley and others found many more translocations leading to cancer.
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Such mass translocations of tortoises from other development projects have resulted in mortality as high as 50 percent.
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"At no point either before or during the translocations were any issues raised about the quality of the water on the site," WWF said by email.
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Their location-driven residential history is a handbook for urban downsizing, as they have managed to achieve, in four happy translocations, the equivalent of reducing a cow to a bouillon cube.
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It may also be used in couples carrying chromosomal translocations such as balanced reciprocal translocations or Robertsonian translocations, which have the potential to cause chromosomal imbalances in their offspring.
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Robertsonian translocations are named after the American zoologist and cytogeneticist William Rees Brebner Robertson (1881–1941) who first described a Robertsonian translocation in grasshoppers in 1916. They are also called whole-arm translocations or centric-fusion translocations.
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Reciprocal translocations are usually an exchange of material between non-homologous chromosomes and occur in about 1 in 491 live births. Such translocations are usually harmless and may be found through prenatal diagnosis. However, carriers of balanced reciprocal translocations have increased risks of creating gametes with unbalanced chromosome translocations, leading to Infertility, miscarriages or children with abnormalities. Genetic counseling and genetic testing are often offered to families that may carry a translocation.
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Translocations have been observed. Progression from myelodysplastic syndrome has been reported.
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Species translocation can vary greatly across taxa. For instance, bird and mammal translocations have a high success rate, while amphibian and reptile translocations have a low success rate. Successful translocations are characterized by moving a large number of individuals, using a wild population as the source of the translocated individuals, and removing the problems which caused their decline within the area they are being translocated. The translocation of 254 black bears to the Ozark Mountains in Arkansas resulted in more than 2,500 individuals 11 years later and has been seen as one of the most successful translocations in order Carnivora.
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Robertsonian translocations have been seen involving all combinations of acrocentric chromosomes. The most common translocation in humans involves chromosomes 13 and 14 and is seen in about 0.97 / 1000 newborns. Carriers of Robertsonian translocations are not associated with any phenotypic abnormalities, but there is a risk of unbalanced gametes that lead to miscarriages or abnormal offspring. For example, carriers of Robertsonian translocations involving chromosome 21 have a higher risk of having a child with Down syndrome.
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This inability can be seriously harmful to the diagnosis made. PGH can make the distinction that FISH often cannot. PGH does this by using polymorphic markers that are better suited at recognizing translocations. These polymorphic markers are able to distinguish between embryos that carried normal, balanced, and unbalanced translocations.
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The occurrence of R. pallidus in the Walawe River basin is not natural, but the result of translocations.
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Other tests may check for various chromosomal aberrations such as chromatid and chromosomal gaps and deletions, translocations, and ploidy.
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Most balanced translocation carriers are healthy and do not have any symptoms. It is important to distinguish between chromosomal translocations occurring in gametogenesis, due to errors in meiosis, and translocations that occur in cellular division of somatic cells, due to errors in mitosis. The former results in a chromosomal abnormality featured in all cells of the offspring, as in translocation carriers. Somatic translocations, on the other hand, result in abnormalities featured only in the affected cell line, as in chronic myelogenous leukemia with the Philadelphia chromosome translocation.
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Recombination can occur between DNA sequences that contain no sequence homology. This can cause chromosomal translocations, sometimes leading to cancer.
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Of the 261 translocations in the United States reported wild species were most frequently translocated, and the greatest number occurred in the Southeast.
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Pvt1 oncogene (non-protein coding), also known as PVT1 or Plasmacytoma Variant Translocation 1 is a long non-coding RNA gene. In mice, this gene was identified as a breakpoint site in chromosome 6;15 translocations. These translocations are associated with murine plasmacytomas. The equivalent translocation in humans is t(2;8), which is associated with a rare variant of Burkitt's lymphoma.
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The nonrandom participation of human acrocentric chromosomes in Robertsonian translocations. Annals of Human Genetics 1989;53:49-65. The most frequent forms of Robertsonian translocations are between chromosomes 13 and 14, 14 and 21, and 14 and 15.Unique: Rare Chromosome Disorder Support Group A Robertsonian translocation in balanced form results in no excess or deficit of genetic material and causes no health difficulties.
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Sudasinghe, H., J. Herath, R. Pethiyagoda and M. Meegaskumbura. (2018). Undocumented Translocations Spawn Taxonomic Inflation in Sri Lankan Fire Rasboras (Actinopterygii, Cyprinidae). PeerJ. 6:e6084.
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Unlike karyotypes obtained from conventional cytogenetics, virtual karyotypes are reconstructed by computer programs using signals obtained from disrupted DNA. In essence, the computer program will correct translocations when it lines up the signals in chromosomal order. Therefore, virtual karyotypes cannot detect balanced translocations and inversions. They also can only detect genetic aberrations in regions of the genome that are represented by probes on the array.
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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.
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Translocations of South Island saddlebacks to Putauhinu Island occurred in 1974, 1976, and 1984. Thirty Snares Island snipe were translocated from the Snares Islands in 2005.
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Although there was some resistance to her ideas at first, her work has proven immensely influential, and by 1990 over seventy translocations had been identified across different cancers.
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Undocumented Translocations Spawn Taxonomic Inflation in Sri Lankan Fire Rasboras (Actinopterygii, Cyprinidae). PeerJ. 6:e6084. They are calm, social and attractively colored fish that sometimes are kept in aquariums.
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Several characteristic genetic changes lead to the creation of a leukemic lymphoblast. These changes include chromosomal translocations, intrachromosomal rearrangements, changes in the number of chromosomes in leukemic cells, and additional mutations in individual genes. Chromosomal translocations involve moving a large region of DNA from one chromosome to another. This move can result in placing a gene from one chromosome that promotes cell division to a more actively transcribed area on another chromosome.
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An example is the detection of BCR/ABL translocations, where the secondary color indicates disease. This variation is often called double-fusion FISH or D-FISH. In the opposite situation—where the absence of the secondary color is pathological—is illustrated by an assay used to investigate translocations where only one of the breakpoints is known or constant. Locus-specific probes are made for one side of the breakpoint and the other intact chromosome.
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This gene encodes a DNA-binding protein which specifically recognizes conserved target sequences at the breakpoint junction of chromosomal translocations. Translin polypeptides form a multimeric structure that is responsible for its DNA-binding activity. Recombination- associated motifs and translin-binding sites are present at recombination hotspots and may serve as indicators of breakpoints in genes which are fused by translocations. These binding activities may play a crucial role in chromosomal translocation in lymphoid neoplasms.
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Most cancer cells are aneuploid, meaning that they have an abnormal number of chromosomes which often have significant structural abnormalities such as chromosomal translocations, where sections of one chromosome are exchanged or attached onto another. Changes in ploidy can alter expression of proto-oncogenes or tumor suppressor genes. Segmental aneuploidy can occur due to deletions, amplifications or translocations, which arise from breaks in DNA, while loss and gain of whole chromosomes is often due to errors during mitosis.
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Oocyte quality is also a main contributor to overall embryo quality since it is the DNA of the oocyte that is mainly involved in the first 3 days of embryo growth following fertilization. A major source of genetic abnormalities are balanced translocations (Figure 1). A translocation involves the exchange of segments of chromosomes that are not a homologous pair. In most cases, this leads to balanced translocations, in which no DNA is lost therefore is usually asymptomatic.
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The LMO2 transcription start site is located approximately 25 kb downstream from the 11p13 T-cell translocation cluster (11p13 ttc), where a number of T-cell acute lymphoblastic leukemia-specific translocations occur.
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From 1996 to 2000, Western Shield has taken part of 60 translocations, mostly introductions, of 17 species all over the country on private and interstate lands.McNamara, Keiran. 2004. Western Shield. Conservation Science W. Australia.
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Autosomal translocations can be responsible for a number of diseases, ranging from cancer to schizophrenia. Unlike single gene disorders, diseases caused by aneuploidy are the result of improper gene dosage, not nonfunctional gene product.
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It is a component of the super elongation complex. It is recognized as a proto-oncogene: chromosomal translocations associated with leukemia can fuse this gene with others like KMT2A, producing an uncontrolled activator protein.
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A bighorn ram near Jasper, Alberta Populations of bighorn sheep are at only about 2% to 8% of their sizes at the time of European settlement. Causes for the rapid decline from 1870 through 1950 included unregulated harvesting, excessive grazing of livestock on rangelands, and diseases transmitted by domestic sheep. In recent years, more than 115 translocations were made to restore bighorn sheep into the Rocky Mountains and into many national parks. Only 39% of the 115 bighorn sheep translocations are persisting in 6 Rocky Mountain states.
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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.
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DUX is normally expressed in the testes and cleavage-stage embryos. Inappropriate expression of DUX4 in muscle cells is the cause of facioscapulohumeral muscular dystrophy. Overexpression of DUX4 due to translocations can cause B cell leukemia.
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Translocations can be balanced (in an even exchange of material with no genetic information extra or missing, and ideally full functionality) or unbalanced (where the exchange of chromosome material is unequal resulting in extra or missing genes).
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Clonal rearrangements of the immunoglobulin genes (heavy and light chains) are frequently seen. The deletion 7q21-32 is seen in 40% of SMZL patients, and translocations of the CDK6 gene located at 7q21 have also been reported.
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The tumor often displays characteristic chromosomal translocations between chromosomes #3 and #8. This causes the PLAG gene to be juxtaposed to the gene for beta catenin. This activates the catenin pathway and leads to inappropriate cell division.
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Cryptic RSSs are gene sequences that resemble authentic RSSs and are occasionally mistaken for them by the RAG1/RAG2 enzyme complex. Recombining an RSS with a cRSS can lead to chromosome translocations, which can lead to cancer.
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Most people with Robertsonian translocations have only 45 chromosomes in each of their cells, yet all essential genetic material is present, and they appear normal. Their children, however, may either be normal, carry the fusion chromosome (depending which chromosome is represented in the gamete), or they may inherit a missing or extra long arm of an acrocentric chromosome (phenotype affected). Genetic counseling and genetic testing is offered to families that may be carriers of chromosomal translocations. Rarely, the same translocation may be present homozygously if heterozygous parents with the same Robertsonian translocation have children.
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Structural CIN is different in that rather than whole chromosomes, fragments of chromosomes may be duplicated or deleted. The rearrangement of parts of chromosomes (translocations) and amplifications or deletions within a chromosome may also occur in structural CIN.
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Translocations within Southeast Asia likely started in ancient times. Even Europeans recognized its value as a food fish several hundred years ago. For example, Georges Cuvier (1769–1832) suggested that it should be introduced to the French colonies.
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Translocations that always involve rearrangement of the RARA gene are a cardinal feature of acute promyelocytic leukemia (APL; MIM 612376). The most frequent translocation is t(15,17)(q21;q22), which fuses the RARA gene with the PML gene.
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Genetic counseling can also involve medical evaluation and clinical work-up for couples with infertility and/or recurrent pregnancy loss, as these histories can be associated with parental chromosome aberrations (such as inversions or translocations) and other genetic conditions.
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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.
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ABCG2 can export anthrocycline anticancer drugs, as well as topotecan, mitoxantrone, or doxorubicin as substrates. Chromosomal translocations have been found to cause the ABCG2 amplification or rearrangement found in resistant cell lines. The normal function of ABCG2 is not known.
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Inspection of the stained metaphase chromosomes allows the determination of numerical and structural changes in the tumor cell genome, for example, losses of chromosomal segments or translocations, which may lead to chimeric oncogenes, such as bcr-abl in chronic myelogenous leukemia.
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If, for example, a reciprocal translocation is fixed in a population, the hybrid produced between this population and one that does not carry the translocation will not have a complete meiosis. This will result in the production of unequal gametes containing unequal numbers of chromosomes with a reduced fertility. In certain cases, complete translocations exist that involve more than two chromosomes, so that the meiosis of the hybrids is irregular and their fertility is zero or nearly zero. Inversions can also give rise to abnormal gametes in heterozygous individuals but this effect has little importance compared to translocations.
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Mutations in this gene can cause mental retardation or permanent paralysis X-linked type 93, which is also referred to as mental retardation X-linked with macrocephaly. This gene is also associated with translocations in patients with B-cell chronic lymphocytic leukemia.
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Smithsonian Institution Press, Washington, DC () The golden lion tamarins faced the potential of getting new diseases that they had not been previously exposed to. Many were exposed to callitrichid hepatitis, and contracted the disease.Cunningham, A. A. 1996. Disease risks of wildlife translocations.
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Homologous recombination deficiency leads to Signature 3 substitution pattern, but also to increase burden of structural variants. In the absence of homologous recombination, non-homologous end joining leads to large structural variants such as chromosomal translocations, chromosomal inversions and copy number variants.
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TFG is also observed as a fusion transcript with ALK (2p23) in anaplastic large-cell lymphoma and with NTRK1 (1q21) in some of thyroid papillary carcinomas. Recent evidence demonstrates that tumors with these various translocations have similar profiles of the gene expression.
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There may be unbalanced translocations (i.e. 17q:17p or 12q:17p), or the presence of a ring chromosome 17. This syndrome should not be confused with Miller syndrome, an unrelated rare genetic disorder, or Miller Fisher syndrome, a form of Guillain–Barré syndrome.
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Undocumented Translocations Spawn Taxonomic Inflation in Sri Lankan Fire Rasboras (Actinopterygii, Cyprinidae). PeerJ. 6:e6084. A comprehensive taxonomic review in 2018 based on morphometry, meristics and mtDNA disputed the validity of R. rohani, showing that it is a junior synonym of R. pallidus.
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Chromosomal rearrangements, microdeletions, and large-scale translocations have been associated with impaired neurological and cognitive function, for example in hereditary neuropathy and neurofibromatosis. Optical mapping can significantly improve variant detection and inform gene interaction network models for the diseased state in neurological disorders.
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This has possibly been enhanced by habitats changes by humans (allowing populations to easier come into contact with each other) and translocations of individuals. Most leopard anoles do not clearly match the typically recognized subspecies.Legreneur, P. (7 April 2012). The Anoles Of Guadeloupe.
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Wellington: Department of Conservation. . There are now approximately 160 kākā in the forest, and the goal is to have a population of 600 in a few years.Icon birds , Pukaha Mount Bruce. North Island brown kiwi and North Island kōkako translocations followed in 2003.
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RUNX proteins form a heterodimeric complex with CBFβ which confers increased DNA binding and stability to the complex. Chromosomal translocations involving the RUNX1 gene are associated with several types of leukemia including M2 AML. Mutations in RUNX1 are implicated in cases of breast cancer.
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Anthropogenic hybridization between endangered migratory and commercially harvested stationary whitefish taxa (Coregonus spp.). Evol Appl. 7(9): 1068-1083. Hybridization and introgression between North Sea houting and its relatives is well-documented, and likely the result of translocations of Coregonus between different regions by humans.
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After the whole genome is sequenced using a high throughput sequencing method, such as Illumina HiSeq, PARE is applied to the data to analyze chromosomal rearrangements and translocations. This technique was originally designed to analyze solid tumor DNA but was modified for ctDNA applications.
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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.
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Loss of heterozygocity on chromosome arm 3p is found in more than 80% of SCLCs, including the loss of FHIT. One hundred translocations have so far been reported in SCLCs (see the "Mitelman Database" and the Atlas of Genetics and Cytogenetics in Oncology and Haematology,).
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Ali Shilatifard is an American biochemist/molecular biologist, the Robert Francis Furchgott Professor and Chairman of the department of biochemistry and molecular genetics, and the director of the Simpson Query Institute for Epigenetics at the Northwestern University Feinberg School of Medicine. He has served as a senior editor for the journal Science, and currently serves as the Editor for Science's open access journal Science Advances. Research in Shilatifard's lab focuses on the cause of childhood leukemia through chromosomal translocations, the role of ELL in this process, and the discovery of the Super Elongation Complex as being a central complex linking MLL translocations into a diverse number of genes to leukemic pathogenesis.
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In unbalanced forms, Robertsonian translocations cause chromosomal deletions or addition and result in syndromes of multiple malformations, including trisomy 13 (Patau syndrome) and trisomy 21 (Down syndrome). A Robertsonian translocation results when the long arms of two acrocentric chromosomes fuse at the centromere and the two short arms are lost. If, for example, the long arms of chromosomes 13 and 14 fuse, no significant genetic material is lost—and the person is completely normal in spite of the translocation. Common Robertsonian translocations are confined to the acrocentric chromosomes 13, 14, 15, 21 and 22, because the short arms of these chromosomes encode for rRNA which is present in multiple copies.
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The domestic horse genome includes one metacentric chromosome that is homologous to two acrocentric chromosomes in the conspecific but undomesticated Przewalski's horse. This may reflect either fixation of a balanced Robertsonian translocation in domestic horses or, conversely, fixation of the fission of one metacentric chromosome into two acrocentric chromosomes in Przewalski's horses. A similar situation exists between the human and great ape genomes, with a reduction of two acrocentric chromosomes in the great apes to one metacentric chromosome in humans (see aneuploidy and the human chromosome 2). Strikingly, harmful translocations in disease context, especially unbalanced translocations in blood cancers, more frequently involve acrocentric chromosomes than non-acrocentric chromosomes.
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Among them were Meis2, a homeobox transcription factor critical for development of forebrain neurons and Satb2, a protein involved in neuronal differentiation. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.
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However, RNA is a much less stable target for diagnostics than DNA and requires careful handling and processing. The markers used for RNA-based testing are almost exclusively chromosomal translocations such as t(9;22) BCR-ABL, t(15;17) PML-RARA and t(12;21) ETV6-RUNX1 (TEL-AML1).
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A 111-kb copy number gain with breakpoints within the TRK-fused gene (a target of translocations in lymphoma and thyroid tumors) and GPR128 has been identified in the genome of patients with atypical myeloproliferative neoplasms. Notably, the fused gene was also detected in few healthy individuals.
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Diagram of yeast signaling pathways in response to glucose. Solid arrows represent transformations and/or translocations and dotted lines represent regulatory or catalytic influences. Glucose sensing and signaling in budding yeast is similar to the mammalian system in many ways. However, there are also significant differences.
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This protein is a coiled-coil membrane protein that has been postulated to play a role in vesicle tethering and docking. Translocations involving this gene and the ret proto-oncogene have been found in tumor tissues; the chimeric sequences have been designated RET-II and PTC5.
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Polar body diagnosis (PBD) can be used to detect maternally derived chromosomal aneuploidies as well as translocations in oocytes. The advantage of PBD over PGD is that it can be accomplished in a short amount of time. This is accomplished through zona drilling or laser drilling.
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One of the most unique features of MPAL is that translocations, especially on KMT2A, can change (switch) the nature of the cancer between myeloid and lymphoid. This so-called lineage plasticity is attributed to the unusual clinical conditions (phenotypes) and difficulty in the diagnosis and treatment.
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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.
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Sudasinghe, H., J. Herath, R. Pethiyagoda and M. Meegaskumbura. (2018). Undocumented Translocations Spawn Taxonomic Inflation in Sri Lankan Fire Rasboras (Actinopterygii, Cyprinidae). PeerJ. 6:e6084. Although this expands its range in the Kalu River basin, R. vaterifloris is more threatened than the relatively widespread R. pallidus.
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This is known as a 'translocation Downs'. This is due to a mis-segregation (nondisjunction) during gametogenesis. The mother has a higher (10%) risk of transmission than the father (1%). Robertsonian translocations involving chromosome 14 also carry a slight risk of uniparental disomy 14 due to trisomy rescue.
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Pseudodiploid or pseudoploid refers to one of the essential components in viral reproduction. It means having two RNA genomes per virion but giving rise to only one DNA copy in infected cells. The term is also used to refer to cells that are diploid, but have chromosomal translocations.
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Forest dieback due to this fungi have been shown to increase the amount of predators in the area, but have not been proven to have any effect on the scrubbirds populations yet Translocations to native ranges have been attempted several times with little success due to the noisy scrubbird requiring a very specific habitat. These translocations even required the removal of all potential predators for the scrubbird, but still had little success. The best conservation method would be to reintroduce the scrubbird to its native ranges by carefully monitoring the populations and controlling forest fires. A fire event in the few major concentrations of its populations could be detrimental to all previous conservation efforts.
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Patients with the alveolar subtype harbored the characteristic translocations including translocation of the FOXO1 gene fusing with the PAX3 or PAX7 gene. In the neuroectodermal component of the tumors, neuroblastic neoplasm was the most common presentation (4/6) and the other two cases represented a primitive neuroectodermal tumor-like morphology.
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Mutations in this gene cause Rubinstein-Taybi syndrome (RTS). Chromosomal translocations involving this gene have been associated with acute myeloid leukemia. Hypothalamic expression of this gene in mice correlates with mouse lifespan, and when CBP is inhibited in C. elegans by RNAi, there is a proportional fold-change decrease in lifespan.
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These polymorphic markers are able to distinguish between embryos that carried normal, balanced, and unbalanced translocations. FISH also requires more cell fixation for analysis whereas PGH requires only transfer of cells into polymerase chain reaction tubes. The cell transfer is a simpler method and leaves less room for analysis failure.
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In early 1964, 36 individuals on Big South Cape Island were translocated by the New Zealand Wildlife Service to pest-free islands. Big Island received 21 individuals, whilst Kaimohu Island received 15. Further translocations and predator removal allowed the population to recover, with the current population estimated to be around 2000.
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Targets: t(11;14) IgH/CCND1 (IgH/BCL1), patient-specific assays for immunoglobulin and T cell receptor genes Uses: The t(11;14) is regularly used for MRD detection, but the assay can only reliably detect 40–60% of the t(11;14) translocations. Patient-specific assays are still generally only used in research protocols.
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Abnormal function of Syk has been implicated in several instances of hematopoietic malignancies including translocations involving Itk and Tel. Constitutive Syk activity can transform B cells. Several transforming viruses contain "Immunoreceptor Tyrosine Activation Motifs" (ITAMs) which lead to activation of Syk including Epstein Barr virus, bovine leukemia virus, and mouse mammary tumor virus.
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However, as female gametes are formed, it is probable that 2/3 of embryos produced will have unbalanced translocations within their DNA if fertilised by sperm with a balanced translocation too. Translocation mutations can occur at any point during fertilization or even the first meiotic division that the oocyte undergoes during foetal life.
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Within the National Park, there are some bacteria that pose potential problems to the wildlife which inhabit it. A bacterium pathogen dangerous to the wildlife, in particular koalas is: Chlamydia pecorum.Waugh, C., Hanger, J., Timms, P., & Polkinghorne, A. (2016). Koala translocations and Chlamydia: Managing risk in the effort to conserve native species. (Report).
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In muscle cells, they regulate muscle contraction by controlling the binding of myosin heads to the actin filament. Mutations in this gene result in autosomal dominant nemaline myopathy, and oncogenes formed by chromosomal translocations involving this locus are associated with cancer. Multiple transcript variants encoding different isoforms have been found for this gene.
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Pleomorphic adenoma gene 1 encodes a zinc finger protein with 2 putative nuclear localization signals. PLAG1, which is developmentally regulated, has been shown to be consistently rearranged in pleomorphic adenomas of the salivary glands. PLAG1 is activated by the reciprocal chromosomal translocations involving 8q12 in a subset of salivary gland pleomorphic adenomas.
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Numerous putative chimeric transcripts have been identified among the expressed sequence tags using high throughput RNA sequencing technology. In humans, chimeric transcripts can be generated in several ways such as trans-splicing of pre- mRNAs, RNA transcription runoff, from other errors in RNA transcription or they can also be the result of gene fusion following inter-chromosomal translocations or rearrangements. Among the few corresponding protein products that have been characterized so far, most result from chromosomal translocations and are associated with cancer. For instance, gene fusion in chronic myelogenous leukemia (CML) leads to an mRNA transcript that encompasses the 5′ end of the breakpoint cluster region protein (BCR) gene and the 3′ end of the Abelson murine leukemia viral oncogene homolog 1 (ABL) gene.
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Translocations involving this gene are associated with Burkitt lymphoma and multiple myeloma in human patients. There is evidence to show that translation initiates both from an upstream, in-frame non-AUG (CUG) and a downstream AUG start site, resulting in the production of two isoforms with distinct N-termini. [provided by RefSeq, Aug 2017].
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The results from a 2013 study displays the effects of introducing translocations between those desirable traits from A. cristatum to modern wheat species.Song L, Jiang L, Han H, Gao A, Yang X, Li L, & Liu W (2013). Efficient Induction of Wheat- Agropyron cristatum 6P Translocation Lines and GISH Detection. PLoS ONE 8(7): e69501.
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Mutations in this gene are associated with meningioma. Reciprocal translocations between chromosomes 22 and 17, at sites where this gene and that for COL1A1 are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans resulting from unregulated expression of growth factor. Two splice variants have been identified for this gene.
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"The Orange-fronted Parakeet (Cyanoramphus malherbi)". Notornis 17 (2): 115–125 On Maud Island, one study found that the parakeet prefers areas with greater canopy cover and lower understory and ground cover.Ortiz-Catedral, L. (2012). "Habitat use by the critically endangered orange-fronted parakeet (Cyanoramphus malherbi) on Maud Island: its relevance for future translocations".
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Percentage of translocated animals by class (Source:Griffith et al. 1993) Between 1973 and 1989 an estimated 515 translocations occurred per year in the United States, Canada, New Zealand and Australia. The majority were conducted in the United States. Birds were the most frequently translocated, followed by threatened and endangered species, then non-game species.
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U.S. National Library of Medicine, n.d. Web. November 1, 2016. <>. This so-called PWS/AS region in the paternal chromosome 15 may be lost by one of several genetic mechanisms, which in the majority of instances occurs through chance mutation. Other, less common mechanisms include uniparental disomy, sporadic mutations, chromosome translocations, and gene deletions.
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Examples of successful reintroductions include wolves to Yellowstone National Park in the U.S., and the red kite to parts of England and Scotland. Introductions or translocations of species have also been proposed in the interest of genetic conservation, which advocates the introduction of new individuals into genetically depauperate populations of endangered or threatened species.
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A longer duration of sexual stimulation before ejaculation slightly increases sperm quality. Males carrying Robertsonian translocations in their chromosomes have significantly higher degree of sperm cell apoptosis and lower concentration. Sperm cells also have decreased forward motility, but normal morphology. Testicular cancer, Leydig cell tumours and Sertoli cell tumours are also associated with reduced sperm count and quality.
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Nkasa Rupara National Park forms part of the Mudumu South complex. Complexes group formally protected areas, conservancies and forestry management areas into single units to manage resources across park and conservancy boundaries. Stakeholders work together on law enforcement and anti-poaching, fire management (early burning), game monitoring and wildlife translocations. This approach is known as integrated park management.
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Role of JADE1 in human disease has not been elucidated. A recent study searched for novel submicroscopic genetic changes in myelofibrosis, which is a bone marrow cancer. The study identified seven novel deletions and translocations in small cohort of patients with primary myelofibrosis. JADE1 and the adjacent gene called Sodium channel and clathrin linker 1 (SCLT1) were significantly modified.
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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.
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In the past, koi were commonly believed to have been bred from the common carp (Cyprinus carpio). Extensive hybridization between different populations, coupled with widespread translocations, have muddled the historical zoogeography of the common carp and its relatives. Traditionally, Amur carp (C. rubrofuscus) were considered a subspecies of the common carp, often under the scientific name C. carpio haematopterus.
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This was often done through karyotyping, and is now done with FISH. This method is commonly used to detect chromosomal deletions or translocations often associated with cancer. FISH is also used for melanocytic lesions, distinguishing atypical melanocytic or malignant melanoma. Cancer cells often accumulate complex chromosomal structural changes such as loss, duplication, inversion or movement of a segment.
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M5 is associated with characteristic chromosomal abnormalities, often involving chromosome 11, such as t(9;11), affecting the MLL (KMTA2) locus at 11q23; however MLL translocations are also found in other leukemia subtypes. The t(8;16) translocation in AMoL is associated with hemophagocytosis. Secondary leukaemia, which may include AML-M5, has been associated with exposure to epipodophyllotoxins, such as etoposide.
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Tokay Gecko (Gekko gecko) established on South Water Caye, Belize. BiologicalDiversity.info.. Increasing urbanization is reducing its range. It is currently unclear whether the species is native but very uncommon in Taiwan, or whether the rare reports of individuals since the 1920s are based on repeated anthropogenic translocations that may or may not have resulted in established populations by now.
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In 1938, Karl Sax, at the Harvard University Biological Laboratories, published a paper entitled "Chromosome Aberrations Induced by X-rays", which demonstrated that radiation could induce major genetic changes by affecting chromosomal translocations. The paper is thought to mark the beginning of the field of radiation cytology, and led him to be called "the father of radiation cytology".
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As the cycle continues, more chromosome translocations result, leading to the amplification or loss of large DNA fragments. Some of these changes will kill the cell, however, in a few rare cases, the rearrangements can lead to a viable cell without tumor suppressor genes and increased expression of proto-oncogenes that may become a tumor cell.
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The petals are occasionally solid deep red. A unique feature of this species is its tendency to have widespread reciprocal translocations. Wedberg et al. showed that populations of this plant in the foothills of California had frequencies of translocation heterozygosity approaching 50%, while those in higher elevations in alpine regions have frequencies of less than 10%.
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Greater than 90% of cases contain a clonal rearrangement of the T-cell receptor. Oncogenic potential is conferred by upregulation of a tyrosine kinase gene on chromosome 2. Several different translocations involving this gene have been identified in cases of this lymphoma. The most common is a chromosomal translocation involving the nucleophosmin gene on chromosome 5.
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Mitochondrial genetic diversity and gene flow of common carp from main river drainages in China. Freshwater Biology 55(9): 1905–1915. However, any phylogenetic structure is difficult to establish because of widespread translocations of carp between different regions. The parent species of the domesticated koi carp is an East Asian carp, possibly C. rubrofuscus (not C. carpio).
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The UBE3A gene lies within the human chromosomal region 15q11-13. Other abnormalities in this region of chromosome 15 can also cause Angelman syndrome. These chromosomal changes include deletions, rearrangements (translocations) of genetic material, and other abnormalities. Like mutations within the gene, these chromosomal changes prevent any functional ubiquitin protein ligase E3A from being produced in the brain.
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Advances in cytogenetics facilitated discovery of chromosome abnormalities in neoplasms, including the Philadelphia chromosome in chronic myelogenous leukemia and translocations in acute myeloblastic leukemia. Sequences of karyotypes replacing one another in a tumor were observed as it progressed. Researchers hypothesized that cancer evolves in a sequence of chromosomal mutations and selection and that therapy may further select clones.
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Past and present distribution and translocations of Macquarie perch Macquaria australasica (Pisces: Percichthyidae), with particular reference to Victoria. Proceedings of the Royal Society of Victoria 93: 23–30. In the 1970s the species was observed to be declining in abundance with a contracting range and this eventually led to a listing of nationally endangered under the EPBC Act 1999.
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Cancer is a complex, multifactorial disease. Carcinogenesis is linked with DNA mutations, chromosomal translocations, dysfunctional proteins, and aberrant cell cycle regulators. Cancer alters the DNA of cells and the mutated genetic material is passed on to daughter cells, resulting in neoplasms. The mutated DNA effects genes involved with the cell cycle, classified as either oncogenes or tumor suppressor genes.
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Human male karyotype. In the late 1960s, Torbjörn Caspersson developed a quinacrine fluorescent staining technique (Q-banding) which revealed unique banding patterns for each chromosome pair. This allowed chromosome pairs of otherwise equal size to be differentiated by distinct horizontal banding patterns. Banding patterns are now used to elucidate the breakpoints and constituent chromosomes involved in chromosome translocations.
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The PRAME family has 26 members on human chromosome 1. In the macaque, it has eight, and has been very simple and stable for millions of years. The PRAME family arose in translocations in the common mouse-primate ancestor 85 million years ago, and is expanded on mouse chromosome 4. DNA microarrays are used in macaque research.
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This gene encodes a subunit of TFIID present in a subset of TFIID complexes. Translocations involving chromosome 17 and chromosome 9, where the gene for the nuclear receptor CSMF is located, result in a gene fusion product that is an RNA binding protein associated with a subset of extraskeletal myxoid chondrosarcomas. Two transcripts encoding different isoforms have been identified.
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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.
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The abnormal cells build up in the bone marrow and prevent the development of other healthy cells. This type of arrest is still under study but in most cases, a gene inactivation or activation has occurred due to chromosome translocations or inversion. AML-M4 with an inversion of chromosome 16 is caused by breakage and rearrangement within itself.
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NHEJ can also introduce mutations during repair. Loss of damaged nucleotides at the break site can lead to deletions, and joining of nonmatching termini forms insertions or translocations. NHEJ is especially important before the cell has replicated its DNA, since there is no template available for repair by homologous recombination. There are "backup" NHEJ pathways in higher eukaryotes.
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K. Witzenberger, A. Hochkirch, (2008) Genetic consequences of animal translocations: A case study using the field cricket, Gryllus campestris L. Biological Conservation, Volume 141, Issue 12, 3059-3068 Field crickets are one of the species in the Back from the Brink project, which in 2018 translocated crickets to RSPB Pulborough Brooks to form a new population.
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These microhomologies are often present in single-stranded overhangs on the ends of double-strand breaks. When the overhangs are perfectly compatible, NHEJ usually repairs the break accurately. Imprecise repair leading to loss of nucleotides can also occur, but is much more common when the overhangs are not compatible. Inappropriate NHEJ can lead to translocations and telomere fusion, hallmarks of tumor cells.
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A fifth population is represented by a singleton isolate from Hawaii. Some strains from the European population are found in North America and New Zealand and likely result from recent colonization events. Two isolates from South America, described as Saccharomyces cariocanus, are genetically indistinguishable but exhibit post- zygotic isolation when crossed to strains from the American population, due to chromosomal translocations.
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Cyp33 in mammals causes isomerization in MLL1. MLL1 is a multiprotein complex that regulates gene expression and chromosomal translocations involving this gene often lead to leukemia. MLL's target genes include HOXC8, HOXA9, CDKN1B, and C-MYC. MLL also has two binding domains: a Cyp33 RNA-recognition motif domain (RRM), and a PHD3 domain that binds to H3K4me3 or Cyp33 RRM.
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Today the species also occurs in southern India, Sri Lanka, virtually all of Southeast Asia, New Guinea and northern and eastern Australia, but this is probably the result of human translocations. It has a very long history ( 3,000 years) of being cultivated for its edible seeds, and it is commonly cultivated in water gardens. It is the national flower of India and Vietnam.
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Further translocations took place in 2016 and 2017 bringing the total to just over 50 animals. These animals continue to be monitored using radio tracking, remote cameras and volunteers collecting scats. In summer 2018, the Trust opened a small pine marten information centre close to Devil's Bridge to tell the story of the return of the pine marten to Wales.
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BCR encodes the breakpoint cluster region protein. This protein possess Serine/threonine-specific protein kinase activity and also has GPAase activating effects on RAC1 and CDC42 but its normal function is unclear. BCR is located on human chromosome 22 at position q11.23. Translocations between it and JAK2 create the t(9;22)(p24;q11) fusion gene which codes for the BCR-JAK2 fusion protein.
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Balanced chromosomal rearrangements can have a significant contribution to diseases, as demonstrated by the studies of leukemia. However, many of them are undetected by chromosomal microarray. Karyotyping and FISH can identify balanced translocations and inversions but are labor-intensive and provide low resolution (small genomic changes are missed). A jumping library NGS combined approach can be applied to identify such genomic changes.
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Acute myeloid leukemia is a very heterogeneous disease, composed of a variety of translocations and mutations. However, one tenth of all acute myeloid leukemia cases diagnosed have the AML1-ETO fusion oncoprotein due to the t(8;21) translocation. AML1 or RUNX1 is a DNA-binding transcription factor located at the 21q22. ETO is a protein with transcriptional repressing abilities located at the 8q22.
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Example of autosomal dominant inheritance Liebenberg Syndrome follows an autosomal dominant mode of inheritance, whereby heterozygotes with this mutation express the disease phenotype. It is caused by a heterozygous mutation to chromosome 5. It involves the inappropriate enhancement of the PITX1 gene due to genetic deletions and chromosome translocations. PITX1 is a homeobox gene which are genes that regulate proper body structure development.
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This technique is sometimes called M-FISH. The same physics that make a variety of colors possible for M-FISH can be used for the detection of translocations. That is, colors that are adjacent appear to overlap; a secondary color is observed. Some assays are designed so that the secondary color will be present or absent in cases of interest.
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Deletion of this gene or diminished activity of the encoded protein may play a role in lymphoid malignancies. This gene is also involved in several chromosomal translocations that are associated with lymphoid malignancies including pre-B-cell acute lymphoblastic leukemia (t(1;19), with PBX1 and t(17;19), with HLF), childhood leukemia (t(19;19), with TFPT) and acute leukemia (t(12;19), with ZNF384).
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PARP1 is one of six enzymes required for the highly error-prone DNA repair pathway microhomology-mediated end joining (MMEJ). MMEJ is associated with frequent chromosome abnormalities such as deletions, translocations, inversions and other complex rearrangements. When PARP1 is up-regulated, MMEJ is increased, causing genome instability. PARP1 is up-regulated and MMEJ is increased in tyrosine kinase-activated leukemias.
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Mudumu National Park forms part of the Mudumu North and Mudumu South complexes. Complexes group formally protected areas, conservancies and forestry management areas into single units to manage resources across park and conservancy boundaries. Stakeholders work together on law enforcement and anti-poaching, fire management (early burning), game monitoring and wildlife translocations. This approach is known as integrated park management.
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Abeloff, Martin et al. (2004), pp. 2831–32. The chromosomal translocations encode abnormal fusion proteins, usually transcription factors whose altered properties may cause the "differentiation arrest". For example, in APL, the t(15;17) translocation produces a PML-RARA fusion protein which binds to the retinoic acid receptor element in the promoters of several myeloid-specific genes and inhibits myeloid differentiation.
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DiGeorge syndrome is associated with deletions or translocations of a small segment in the human chromosome 22. This deletion may disrupt rostral neural crest cell migration or development. Some defects observed are linked to the pharyngeal pouch system, which receives contribution from rostral migratory crest cells. The symptoms of DiGeorge syndrome include congenital heart defects, facial defects, and some neurological and learning disabilities.
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This gene was identified by involvement in some t(X;14) translocations associated with mature T-cell proliferations. The gene has two ORFs that encode two different proteins. The upstream ORF encodes a 13kDa protein that is a member of the TCL1 family; this protein may be involved in leukemogenesis. The downstream ORF encodes an 8kDa protein that localizes to mitochondria.
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Zones of groundwater discharge along the Calaveras Fault zone that traverses the watershed maintain cool summer water temperatures. Tule elk (Cervus canadensis spp. nannodes) were re-introduced to the San Felipe Ranch in three translocations from 1978-1981. These elk were thought to have been extirpated until a breeding pair were discovered in the San Joaquin Valley in 1874-1875.
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This is universal in most organisms and affects multiple tissues. In the hematopoietic compartment mutations include both large structural chromosomal alterations and point mutations affecting cancer- associated genes. Some translocations appear to occur very early in life. The frequency of these events is low in people younger than 50 years (<0.5%), but this frequency rapidly increases to 2% to 3% of individuals in their 70s and 80s.
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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.
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The translocation may be identified by analysis of giemsa-banded metaphase spreads of tumor cells and is characterised by t(2;5)(p23;q35). The product of this fusion gene may be identified by immunohistochemistry for ALK. The nucleophosmin component associated with the commonest translocation results in nuclear positivity as well as cytoplasmic positivity. Positivity with the other translocations may be confined to the cytoplasm.
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The most common genetic abnormality occurring in non-Down-AMKL is a nonreciprocal translocation between the short or p arm at position 13 on chromosome 1 (i.e. 1p13) and the p arm at position 13 on chromosome 22 (i.e. 22p13). Nonreciprocal translocations are exchanges of genes between two chromosomes that are not homologs, i.e. that are not maternal and paternal copies of the same chromosome.
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While BCR-ABL1 fusion gene-induce leukemias are sometimes accompanied by eosinophilia, they are not regarded as clonal hypereosinophilias since other features of these leukemias dominate. However, translocations between ABL1 and the ETV6 gene, located on human chromosome 12p13.2 creates the t(9;13)(q34;p13) ETV6-ABL1 fusion gene. This fusion gene is regarded as continuously active in drive hematological cell proliferation leading to clonal hypereosinophilia.
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PAX6 gene analysis can also be helpful to distinguish between autosomal dominant aniridia and Gillespie syndrome. However atypical Gillespie syndrome is associated mutation with PAX6 gene. To elucidate the underlying genetic defects karyotyping and the search for de novo translocations especially of chromosome X and 11 should be performed. This condition is caused by mutations in the inositol 1,4,5-trisphosphate receptor type 1 (ITPR1) gene.
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Ewing's sarcoma is associated with chromosomal translocations, which typically results in fusion genes with transcriptional regulators. This means that the protein transcribes for with the gene could be produced in excess or under- produced resulting in unnatural activity in cells. Typically this is the first step in a cell's progression to malignancy. In about 10% of Ewing's Sarcoma cases have an EWS1-ERG fusion.
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Although the cause is not known, this probably relates to the physical location of acrocentric chromosomes within the nucleus. Acrocentric chromosomes are usually located in and around the nucleolus, so in the center of the nucleus, where chromosomes tend to be less densely packed than chromosomes in the nuclear periphery. Consistently, chromosomal regions that are less densely packed are also more prone to chromosomal translocations in cancers.
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The Maasai Mara is the only protected area in Kenya with an indigenous black rhino population, unaffected by translocations, and due to its size, is able to support one of the largest populations in Africa. Hippopotami and crocodiles are found in large groups in the Mara and Talek rivers. Hyenas, cheetahs, jackals, servals and bat-eared foxes can also be found in the reserve.
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A main disadvantage of conventional CGH is its inability to detect structural chromosomal aberrations without copy number changes, such as mosaicism, balanced chromosomal translocations, and inversions. CGH can also only detect gains and losses relative to the ploidy level.Weiss MM, Hermsen MAJA, Meijer GA, van Grieken NCT, Baak JPA, Kuipers EJ, van Deist PJ (1999) Comparative genomic hybridization. J Clin Pathol: Mol Pathol 52:243–251.
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In other species Y-autosomal translocations lead to appearance of additional X chromosomes (for example, in some New World primates such as howler monkeys). Regarding this aspect, rodents again represent a peculiar derived group, comprising the record number of species with non-classical sex chromosomes such as the wood lemming, the collared lemming, the creep vole, the spinous country rat, the Akodon and the bandicoot rat.
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Molecular markers (small lengths of DNA of a characterized/known sequence) are used to 'tag' and thus track such translocations. A weak colchicine solution has been employed to increase the probability of recombination in the proximal chromosome regions, and thus the introduction of the translocation to that region. The resultant translocation of smaller blocks that indeed carry the R-gene(s) of interest has decreased the probability of introducing unwanted genes.
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In brewers' yeast Saccharomyces cerevisiae, chromosomal rearrangements are a major mechanism to reproductively isolate different strains. Hou et al. showed that reproductive isolation acts postzygotically and could be attributed to chromosomal rearrangements. These authors crossed 60 natural isolates sampled from diverse niches with the reference strain S288c and identified 16 cases of reproductive isolation with reduced offspring viabilities, and identified reciprocal chromosomal translocations in a large fraction of isolates.
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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.
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This gene encodes a protein which specifically interacts with translin, a DNA-binding protein that binds consensus sequences at breakpoint junctions of chromosomal translocations. The encoded protein contains bipartite nuclear targeting sequences that may provide nuclear transport for translin, which lacks any nuclear targeting motifs. Both TSNAX and translin form the C3PO complex which facilitates endonucleolytic cleavage of the passenger strand during microRNA loading into the RNA-induced silencing complex (RISC).
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In less than 20%, inheritance is through an autosomal dominant pattern. The parent is usually unaffected, but carries a particular chromosomal rearrangement called a balanced translocation, in which no genetic material is gained or lost. Increased rate of unexplained fetal loss may be observed in MDS carriers with balanced translocations although they may be otherwise asymptomatic. However, they can become also unbalanced as they are passed to the next generation.
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PGH also has an advantage over FISH in that FISH is not usually able to make the differentiation between embryos that possess the balanced form of a chromosomal translocation and those carrying the homologous normal chromosomes. This inability can be seriously harmful to the diagnosis made. PGH can make the distinction that FISH often cannot. PGH does this by using polymorphic markers that are better suited at recognizing translocations.
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Chromosome engineering is "the controlled generation of chromosomal deletions, inversions, or translocations with defined endpoints." For: By combining chromosomal translocation, chromosomal inversion, and chromosomal deletion, chromosome engineering has been shown to identify the underlying genes that cause certain diseases in mice. In coming years, it is very likely that chromosomal engineering will be able to do the same identification for diseases in humans, as well as all other organisms.
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The most commonly reported abnormalities have occurred at chromosome 14, specifically in a region of the chromosome called band q23 (14q23). Translocations to this location lead to overexpression of the cyclin D1 gene which has been linked to both the development and progression of a number of cancers. Other chromosomal abnormalities have been reported on 6q21, 11q23, 12p12, 13q14 and 17p. It can involve deletions from chromosome 11 and chromosome 13.
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Until comparatively recent times the story of Ireland–Philippines relations was that of a flow of Irish Catholic missionaries to the Philippines. Irish Catholic orders such as the Sisters of Charity founded houses in the Philippines as early as 1862.Translocations: Migration and Social Change, An Inter-Disciplinary Open Access E-Journal,ISSN Number: 2009-0420. The Maynooth mission to China was extended to the Philippines in 1929.
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The dysgenic testis can have adequate functional tissue to produce satisfactory levels of testosterone to cause masculinisation. Mixed gonadal dysgenesis is poorly understood at the molecular level. The loss of the Y chromosome can occur from deletions, translocations, or migration failure of paired chromosomes during cell division. The chromosomal loss results in partial expression of the SRY gene, giving rise to abnormal development of the reproductive tract and altered hormones levels.
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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.
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Virtual karyotyping is another cost-effective, clinically available alternative to FISH panels using thousands to millions of probes on a single array to detect copy number changes, genome-wide, at unprecedented resolution. Currently, this type of analysis will only detect gains and losses of chromosomal material and will not detect balanced rearrangements, such as translocations and inversions which are hallmark aberrations seen in many types of leukemia and lymphoma.
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This gene maps in a region, which include the mixed lineage leukemia and Friend leukemia virus integration 1 genes, where multiple disease-associated chromosome translocations occur. It is an intracellular protein. Archain sequences are well conserved among eukaryotes and this protein may play a fundamental role in eukaryotic cell biology. It has similarities to heat shock proteins and clathrin-associated proteins, and may be involved in vesicle structure or vesicle trafficking.
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Many different kinds of cancers have been observed to contain mutations that promote AKT phosphorylation, and thus the inactivation of FOXOs, effectively preventing proper cell cycle regulation. FOXO4 activates the cell cycle dependent kinase inhibitor, P27, which in turn prevents tumors from progressing into G1. In HER-2 positive tumor cells, increasing FOXO4 activity reduces tumor size. Chromosomal translocations of FOXO4 have been shown to be a cause of acute leukemia.
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Disruption of controlled glial generation subsequently results in tumorigenesis and glioma formation within the central nervous system. Loss of contact inhibition, cellular migration, and unregulated proliferation are characteristic of gliomas. Consistent with other tissues, these malignant phenotypes result most commonly from chromosome deletions, translocations, and point mutations. Linskey reviews both the genetic contributions and phenotypic observations of glioma Linskey ME. (1997) Glial ontogeny and glial neoplasia: The search for closure.
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In contrast to many other taxa, therian mammals and birds are characterized by highly conserved systems of genetic sex determination that lead to special chromosomes, i.e. the sex chromosomes. Although the XX/XY sex chromosome system is the most common among eutherian species, it is not universal. In some species X-autosomal translocations result in the appearance of "additional Y" chromosomes (for example, XX/XY1Y2Y3 systems in black muntjac).
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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.
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The precise mechanism underlying the congenital abnormalities observed in AOS is unknown. Similar terminal transverse limb anomalies and cardiovascular malformations are seen in animal models of hypoxic insults during the first trimester. Combined with the common association of cardiac and vascular abnormalities in AOS, it has been hypothesized that the spectrum of defects observed in AOS could be due to a disorder of vasculogenesis. In rare cases, AOS can be associated with chromosomal translocations.
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Edwards syndrome is a chromosomal abnormality characterized by the presence of an extra copy of genetic material on the 18th chromosome, either in whole (trisomy 18) or in part (such as due to translocations). The additional chromosome usually occurs before conception. The effects of the extra copy vary greatly, depending on the extent of the extra copy, genetic history, and chance. Edwards syndrome occurs in all human populations, but is more prevalent in female offspring.
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These are based on detecting a leukaemic specific DNA sequence. Generally this is achieved through the use of the polymerase chain reaction, a highly sensitive technique that underpins much of molecular biology. The DNA sequence chosen may contribute to the genesis of the leukaemia, or may simply be linked to it. The markers used for DNA-based testing are often chromosomal translocations such as t(14;18) involving BCL2 and t(11;14) involving BCL1 (CCND1).
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Using the method of intergenic translocations, the research shows that successful integrations have been completed and that those plants do in fact grow normally as well. Another method from a successful 2015 study involves the use of intergenic hybridization to introduce resistance genes associated with leaf rust.Ochoa V, Said M, Cabrera A, Madrid E, & Rubiales D (2015). Molecular and cytogenetic characterization of a common wheat-Agropyron cristatum chromosome translocation conferring resistance to leaf rust.
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Overall, however, the Orthalicus reses reses population status appears to be more secure than when it was listed, due to the widespread translocations that occurred subsequently. Orthalicus reses reses no longer occupies the Key West Botanical Forest and Garden. In contrast, many populations exist on Key Largo, well beyond Orthalicus reses reses historic range, as a result of relocations by shell collectors. The majority of relocations had occurred by the late 1990s.
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The corresponding Bcl11a mouse gene is a common site of retroviral integration in myeloid leukemia, and may function as a leukemia disease gene, in part, through its interaction with BCL6. During hematopoietic cell differentiation, this gene is down-regulated. It is possibly involved in lymphoma pathogenesis since translocations associated with B-cell malignancies also deregulates its expression. In addition, BCL11A has been found to play a role in the suppression of fetal hemoglobin production.
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There is no specific immunoprofile for EMC; less than 20% of cases show immunoreactivity for the S-100 protein. The cytogenetics of this tumor reside in the reciprocal translocations of the 9q22 locus with chromosomes 3q11, 15q21, 17q11, and 22q12. Other cytogenetic events can be observed but are not characteristic. The most common translocation includes the EWSR1 locus at 22q12 and the NR4A3 (also known as TEC and CHN) locus at 9q22.
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1523201 In December 2017, 20 B. robustus were fitted with radio transmitters which operated for 3–12 days to determine their home range for future translocations. In July 2018 a 440 ha area in the Mackenzie Basin known as the "Tekapo Triangle" was transferred to the control of the Department of Conservation and set aside as a reserve for B. robustus. Six pairs were taken into captivity in an attempt to breed them.
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Field trials were conducted in the Cayman Islands, Malaysia and Brazil to control the mosquitoes that cause dengue fever. In April 2014, Brazil's National Technical Commission for Biosecurity approved the commercial release of the modified mosquito. The FDA is the lead agency for regulating genetically-engineered mosquitoes in the United States. In 2014 and 2018 research was reported into other genetic methods including cytoplasmic incompatibility, chromosomal translocations, sex distortion and gene replacement.
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In some cases, entire populations have been moved when threatened by development projects, but such translocations need to be carefully planned to be successful. Strict protection of the northern crested newt in the United Kingdom has created conflicts with local development projects, but the species is also seen as a flagship species, whose conservation also benefits a range of other amphibians. Government agencies have issued specific guidelines for the mitigation of development impacts.
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It is specific for the phosphate groups of DNA and attaches itself to regions of DNA where there are high amounts of adenine-thymine bonding. Giemsa stain is used in Giemsa banding, commonly called G-banding, to stain chromosomes and often used to create a karyogram (chromosome map). It can identify chromosomal aberrations such as translocations and rearrangements. It stains the trophozoite Trichomonas vaginalis, which presents with greenish discharge and motile cells on wet prep.
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FHIT is also known as human accelerated region 10. It may, therefore, have played a key role in differentiating humans from apes. supplement This gene, a member of the histidine triad gene family, encodes a diadenosine P1,P3-bis(5'-adenosyl)-triphosphate adenylohydrolase involved in purine metabolism. The gene encompasses the common fragile site FRA3B on chromosome 3, where carcinogen-induced damage can lead to translocations and aberrant transcripts of this gene.
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The leucine-rich glioma inactivated -1 gene is rearranged as a result of translocations in glioblastoma cell lines. The protein contains a hydrophobic segment representing a putative transmembrane domain with the amino terminus located outside the cell. It also contains leucine-rich repeats with conserved cysteine-rich flanking sequences. This gene is predominantly expressed in neural tissues and its expression is reduced in low grade brain tumors and significantly reduced or absent in malignant gliomas.
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In 2005, while investigating what was referred to as an outbreak of “abnormal behaviors,” Bradshaw established that in fact African elephants were experiencing Post-Traumatic Stress Disorder (PTSD). Psychological symptoms included inter- and intra-species aggression, abnormal startle response, depression, mood disorders, and socio-emotional dysfunction, including infant neglect. All were related to a series of human-caused trauma: mass killings, translocations, social disruption, and habitat loss and degradation.Slotow, R. et al. (2000).
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A multitude of genetic and epigenetic changes in DNA profiles in brain cells are thought to be linked to tumorgenesis. These alterations, along with changes in protein functions, are shown to induce uncontrolled cell proliferation, expansion, and metastasis. While genetic events such as deletions, translocations, and amplification give rise to activation of oncogenes and deactivation of tumor suppressing genes, epigenetic changes silence or up-regulate these same genes through key chromatin modifications.
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The X-inactivation center (or simply XIC) on the X chromosome is necessary and sufficient to cause X-inactivation. Chromosomal translocations which place the XIC on an autosome lead to inactivation of the autosome, and X chromosomes lacking the XIC are not inactivated. The XIC contains four non-translated RNA genes, Xist, Tsix, Jpx and Ftx, which are involved in X-inactivation. The XIC also contains binding sites for both known and unknown regulatory proteins.
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Robertsonian translocations are variations in the numbers of chromosomes that arise from either: the fusion of two acrocentric chromosomes into a single chromosome with two arms, causing a reduction in the haploid number, or conversely; or the fission of one chromosome into two acrocentric chromosomes, in this case increasing the haploid number. The hybrids of two populations with differing numbers of chromosomes can experience a certain loss of fertility, and therefore a poor adaptation, because of irregular meiosis.
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Chromosomal rearrangements involving chromosome 22 have rarely been associated with certain types of cancer. These rearrangements, called translocations, disrupt the region of chromosome 22 that contains the EP300 gene. For example, researchers have found a translocation between chromosomes 8 and 22 in several people with a cancer of blood cells called acute myeloid leukemia (AML). Another translocation, involving chromosomes 11 and 22, has been found in a small number of people who have undergone cancer treatment.
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Robertsonian translocation (ROB) is a chromosomal abnormality wherein a certain type of a chromosome becomes attached to another. It is the most common form of chromosomal translocation in humans, affecting 1 out of every 1,000 babies born. It does not usually cause health difficulties, but can in some cases result in genetic disorders such as Down syndrome and Patau syndrome.Unique: Rare Chromosome Disorder Support Group Robertsonian translocations result in a reduction in the number of chromosomes.
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In the latter case, there is translocation of MLL (KMT2A) gene at chromosome 11q23. The aberrant gene produces fusion proteins that act as transcriptional regulators, which overtake the functions of normal MLL and HOX genes. Some proteins induce histone methylation by activating histone methyltransferases. With updated classification, translocations on chromosome 21 and 22 [t(8;21)(q22;q22)], and on 16 and 22 [t(16;16)(p13.1;q22)], as well as inversion on chromosome 16 (p13.1q22) are also included in MPAL.
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On the other hand, oxidants such as free radicals or hydrogen peroxide produce multiple forms of damage, including base modifications, particularly of guanosine, and double- strand breaks. A typical human cell contains about 150,000 bases that have suffered oxidative damage. Of these oxidative lesions, the most dangerous are double-strand breaks, as these are difficult to repair and can produce point mutations, insertions, deletions from the DNA sequence, and chromosomal translocations. These mutations can cause cancer.
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This is called a mosaic karyotype because, like tiles in mosaic floors or walls, there is more than one type of cell. There are many chromosomal variations that cause the 45,X/46,XY karyotype, including malformation (isodicentricism) of the Y chromosomes, deletions of Y chromosome or translocations of Y chromosome segments. These rearrangements of the Y chromosome can lead to partial expression of the SRY gene which may lead to abnormal genitals and testosterone levels.
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Telomeres are critical for maintaining genomic integrity and may be factors for age-related diseases. Laboratory studies show that telomere dysfunction or shortening is commonly acquired due process of cellular aging and tumor development. Short telomeres can lead to genomic instability, chromosome loss and the formation of non-reciprocal translocations; and telomeres in tumor cells and their precursor lesions are significantly shorter than surrounding normal tissue. Observational studies have found shortened telomeres in many types of experimental cancers.
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FUS/TLS was initially identified as a fusion protein (FUS-CHOP) caused by chromosomal translocations in human cancers, especially liposarcomas. In these instances, the promoter and N-terminal part of FUS/TLS is translocated to the C-terminal domain of various DNA-binding transcription factors (eg CHOP) conferring a strong transcriptional activation domain to the fusion proteins. FUS/TLS was independently identified as the hnRNP P2 protein, a subunit of a complex involved in maturation of pre-mRNA.
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Further mutations can also cause absolute infertility. If an interbreeding population contains one group in which (for example) chromosomes A and B have fused, and another population in which chromosomes B and C have fused, both populations will be able to interbreed with the parent population. However, the two subpopulations will not be able to breed successfully with each other if the doubling of chromosome B is fatal. Similar difficulties will occur for incompatible translocations of material.
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This gene encodes a member of the proline and acidic-rich (PAR) protein family, a subset of the bZIP transcription factors. The encoded protein forms homodimers or heterodimers with other PAR family members and binds sequence-specific promoter elements to activate transcription. Chromosomal translocations fusing portions of this gene with the E2A gene cause a subset of childhood B-lineage acute lymphoid leukemias. Alternatively spliced transcript variants have been described, but their biological validity has not been determined.
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As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. It was previously thought that this gene mapped to 3q26 and that it was fused to the acute myeloid leukemia 1 (AML1) gene located at 21q22 in some therapy- related myelodysplastic syndrome patients with 3;21 translocations; however, these fusions actually involve a ribosomal protein L22 pseudogene located at 3q26, and this gene actually maps to 1p36.3-p36.2.
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Any mutation within the coding region of SOX9 can cause campomelic dysplasia and 75% of the reported mutations lead to sex reversal. Four major classes of heterozygous SOX9 mutations can cause CMD: amino acid substitutions in the HMG-box, truncations or frameshifts that alter the C-terminal end, mutations at the splice junction, and chromosomal translocations. Additionally, mutations upstream from SOX9 can also cause CMD. Several researchers have reported cis- acting control elements upstream of SOX9.
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Her research lab focused on protein translocations across lysosomal membranes, identifying regulator proteins like glial fibrillary acidic protein. In collaboration with neuroscientist David Sulzer of Columbia University Medical Center, she published evidence of altered chaperone-mediated autophagy in Parkinson's disease. Similar findings of disrupted autophagy was also reported when Huntington Disease was studied. Cuervo's research team also identified LRRK2, a protein enzyme that becomes mutated in Parkinson's disease, disrupts the process of translocation across lysosomal membranes.
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Common methods include PCR, multiplex ligation-dependent probe amplification (MLPA), and chromosomal microarray (CMA). Cytogenetic/FISH analysis attaches fluorescently labels DNA markers to a denatured chromosome and is then examined under fluorescent lighting, which reveals mutations caused by translocations or inversions involving 7p21. Occasionally, individuals with SCS have a chromosome translocation, inversion, or ring chromosome 7 involving 7p21 resulting in atypical findings, such as, increased developmental delay. Individuals with SCS, typically have normal brain functioning and rarely have mental impairments.
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Chromosomal translocation of BRD3 with the NUT gene has been implicated in NUT midline carcinoma. BRD3-NUT driven cancers are histopathologically indistinguishable from BRD4-NUT driven cancers, likely because these translocations involve the N-terminal portion bromodomain-containing portion of these proteins which are highly conserved. Depletion of BRD3 slows growth in cancer models including prostate cancer and medulloblastoma. The effect of BRD3 depletion is milder than that of other BET proteins BRD2 and BRD4 when each is tested in isolation.
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For example, Mueller and Hellman reviewed 468 documented species invasions and found that only 14.7% occurred on the same continent where the species originated. Of the 14.7%, the vast majority were fish and crustaceans. Terrestrial species that became invasive on the same continent where they originated were often transported across large biogeographic barriers, such as mountain ranges. These long-distance, within- continent translocations are unlike expected uses of assisted colonization, which generally involve helping species colonize habitats immediately adjacent to their current ranges.
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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.
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Genetic processes other than point mutations can lead to tumor-specific antigens. An interesting example is gene fusions resulting from specific chromosomal translocations frequently encountered in certain types of cancer. The gene fusion produces a chimeric protein segment from which a new antigenic peptide can be derived. The recognition of mutation-induced antigens on tumors by T cells is only one aspect of a more general phenomenon which can rightly be named: T cell immunosurveillance of the integrity of the genome.
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Often, when conducting translocation programs, differences in specific habitat types between the source and release sites are not evaluated as long as the release site contains suitable habitat for the species. Translocations could be especially damaging to endangered species citing the failed attempt of Bufo hemiophys baxteri in Wyoming and B. boreas in the Southern Rocky Mountains.Muths, E., T. L. Johnson, and P. S. Corn. 2001. Experimental repatriation of boreal toad (Bufo boreas) eggs, metamorphs, and adults in Rocky Mountain National Park.
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Despite the associated effects of Kleefstra, there is insubstantial information regarding to the lethality of Kleefstra's. Most of the documented cases are de novo with the exception of one case due to hereditary factors; however, some cases may be a result of chromosomal translocations. In the exception case, the mother transferred the EHMT1 point mutation on to her child as she was a carrier of this gene defect. According to Mitter, et al. (2012), the mother's phenotype of the NM_024757.4:c.
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There are several diseases associated with deletions of 14q11.2, but none have been linked specifically to Fam158a. T-Lymphocytic Leukemia with or without ataxia telangiectasia has been associated with inversions and tandem translocations of 14q11 and 14q32 and other chromosomes. Also, syndactyly type 2 has been isolated to 14q11.2-12. This form of syndactyly is characterized by fusion of the third and fourth digits of the hand and the fourth and fifth digits of the foot in addition to other fusions and malformations.
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These studies suggest that there is significant functional redundancy between DNA ligase I and DNA ligase III-alpha in these nuclear DNA repair pathways. In mammalian cells, most DNA double strand breaks are repaired by DNA ligase IV-dependent non-homologous end joining (NHEJ). DNA ligase III-alpha participates in a minor alternative NHEJ pathway that generates chromosomal translocations. Unlike the other nuclear DNA repair functions, it appears that the role of DNA ligase III-alpha in alternative NHEJ is independent of XRCC1.
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This is often called "whole-chromosome painting." If every possible probe is used, every chromosome, (the whole genome) would be marked fluorescently, which would not be particularly useful for determining features of individual sequences. However, it is possible to create a mixture of smaller probes that are specific to a particular region (locus) of DNA; these mixtures are used to detect deletion mutations. When combined with a specific color, a locus-specific probe mixture is used to detect very specific translocations.
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The PAX5 gene is located in chromosome 9p13 region, which is involved in t(9;14)(p13;q32) translocations recurring in small lymphocytic lymphomas of the plasmacytoid subtype, and in derived large-cell lymphomas. This translocation brings the potent E-mu enhancer of the IgH gene locus into close proximity of the PAX5 promoters, suggesting that the deregulation of PAX5 gene transcription contributes to the pathogenesis of these lymphomas. Up to 97% of the Reed–Sternberg cells of Hodgkin's lymphoma express Pax-5.
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This gene can be classified as a proto-oncogene. During chromosomal translocations that occur in cell division, ERG can accidentally get stuck onto a different chromosome than where it belongs. This is analogous to another translocation, the Philadelphia chromosome. This results in fusion gene products, which can have bad consequences for cells. Examples of these fusion gene products would be TMPRSS2-ERG and NDRG1-ERG in prostate cancer, EWS-ERG in Ewing’s sarcoma, and FUS-ERG in acute myeloid leukemia.
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End sequence profiling (ESP) can be used to detect structural variations such as insertions, deletions, and chromosomal rearrangement. Compare to other methods that look at chromosomal abnormalities, ESP is particularly useful to identify copy neutral abnormalities such as inversions and translocations that would not be apparent when looking at copy number variation. From the BAC library, both ends of the inserted fragments are sequenced using a sequencing platform. Detection of variations is then achieved by mapping the sequenced reads onto a reference genome.
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Unfortunately, this population has also been tragically touched by poaching – part of a region-wide increase in poaching in 2012-2013. After losing eight animals, IRV 2020 halted rhino translocations to Manas in 2013 to focus on improving security. Training in new patrolling methods, along with the support of new park leadership, has made a big difference – only one rhino was lost to poaching in Manas in 2014, and the current population of 33 translocated rhinos and new calves continues to thrive.
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North Island saddlebacks naturally occupy lowland broadleaf and coastal evergreen forests, though as a result of translocations, they are now also found in various other forest environments. Before the arrival of humans, North Island saddlebacks were widespread on mainland North Island. However, a combination of deforestation and introduced mammalian predators decimated these populations, and by the 1890s, the mainland population was eliminated, and the remaining North Island saddlebacks were only found on Hen Island, a small island off the coast of Northland.
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Strand NGS is a software platform for next-generation sequencing data analysis. It can import raw read sequences from sequencing platforms like Illumina, Ion Torrent, PacBio, ABI, and 454 Life Sciences and supports fragment, single-end, paired-end, mate-paired, directional single/ paired end library types. Raw reads in formats FASTA, FASTQ, SAM, BAM, Unaligned BAM, BED, Counts data, VCF, VAL, or Eland formats can be imported into the tool. In addition, perform split read alignment for detecting long InDels and translocations.
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The Y chromosome can also contain satellites, although these are thought to be translocations from autosomes. The secondary constriction always keeps its position, so it can be used as markers to identify specific chromosomes. The name derives from the small chromosomal segment behind the secondary constriction, called a satellite, named by Sergei Navashin, in 1912. Later, Heitz (1931) qualified the secondary constriction as the SAT state (Sine Acido Thymonucleico, which means "without thymonucleic acid"), because it didn't stain with the Feulgen reaction.
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Results suggest that within the eastern lowland gorilla subspecies there is an extreme lack of variation, which could reduce the potential of the subspecies to undergo natural selection and adapt to their environment. This lack of diversity is thought to be due to limited number of founders and low levels of migration, which has resulted in a high level of inbreeding in these small population. Conservation interventions for the eastern lowland gorilla have suggested implementing captive breeding programs or translocations between the eastern lowland subgroups.
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There is no reliable data on the environmental and public health impact of the nuclear tests conducted on the island in the late 1950s. A 1975 study claimed that there was negligible radiation hazard; certainly, fallout was successfully minimised. More recently however, a Massey University study of New Zealand found chromosomal translocations to be increased about threefold on average in veterans who participated in the tests; most of the relevant data remains classified to date. The 1982/83 "mega-El Niño" devastated seabird populations on Kiritimati.
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In each of the simulans groups of Drosophila the protein from this gene interacts with the protein from another, as yet undiscovered, gene on the X chromosome in order to form a functioning pore. However, in a hybrid the pore that is formed is defective and causes sterility. The differences in the sequences of Nup96 have been subject to adaptive selection, similar to the other examples of speciation genes described above. Post-copulatory isolation can also arise between chromosomally differentiated populations due to chromosomal translocations and inversions.
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The flax weevil is legally protected under Schedule 7 of the 1953 Wildlife Act, making it an offence to collect, possess or harm a specimen. Predation by rats and mice has caused a restriction of their range to predator-free islands and alpine areas; historically, their range was throughout New Zealand. Translocations have occurred to islands, once rodents have been removed. These include Breaksea Island in Fiordland, Titi Island in the Marlborough Sounds, and Mana Island off the south-west coast of the North Island.
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The majority of mitochondrial proteins is nuclear-coded, which necessitates proper translocations of mitochondrial targeting proteins. Many mitochondrial proteins are synthesized in a precursor form that contains mitochondria targeting sequence. These precursors are usually cleaved by peptidases and proteases before they arrive their sub-organellar locations. It is likely that altered activity of the mitochondrial processing peptidases is essential to ensure the correct maturation of mitochondrial proteins and that altered activity of these proteases will have dramatic effects in the activity, stability and assembly of mitochondrial proteins.
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The proto-oncogene c-Jun is the cellular homolog of the viral oncoprotein v-jun (). The viral homolog v-jun was discovered in avian sarcoma virus 17 and was named for ju-nana, the Japanese word for 17. The human JUN encodes a protein that is highly similar to the viral protein, which interacts directly with specific target DNA sequences to regulate gene expression. This gene is intronless and is mapped to 1p32-p31, a chromosomal region involved in both translocations and deletions in human malignancies.
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Fluorescent in situ hybridization (FISH) and Polymerase chain reaction (PCR) are the two commonly used, first- generation technologies in PGD. PCR is generally used to diagnose monogenic disorders and FISH is used for the detection of chromosomal abnormalities (for instance, aneuploidy screening or chromosomal translocations). Over the past few years, various advancements in PGD testing have allowed for an improvement in the comprehensiveness and accuracy of results available depending on the technology used. Recently a method was developed allowing to fix metaphase plates from single blastomeres.
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The majority of mitochondrial proteins is nuclear- coded, which necessitates proper translocations of mitochondrial targeting proteins. Many mitochondrial proteins are synthesized in a precursor form that contains mitochondria targeting sequence. These precursors are usually cleaved by peptidases and proteases before they arrive their sub-organellar locations. It is likely that altered activity of the mitochondrial processing peptidases is essential to ensure the correct maturation of mitochondrial proteins and that altered activity of these proteases will have dramatic effects in the activity, stability and assembly of mitochondrial proteins.
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Rasboroides rohani, is a species of freshwater cyprinid fish endemic to Sri Lanka where only known from shallow, slow-flowing, shady streams near Suriyakanda in the Walawe River basin. It was scientifically described in 2013, but a comprehensive review in 2018 based on morphometry, meristics and mtDNA disputed its validity, showing that it is a junior synonym of R. pallidus.Sudasinghe, H., J. Herath, R. Pethiyagoda and M. Meegaskumbura. (2018). Undocumented Translocations Spawn Taxonomic Inflation in Sri Lankan Fire Rasboras (Actinopterygii, Cyprinidae). PeerJ. 6:e6084.
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Alternatively, a proto-oncogene is fused to a strong promoter, and thereby the oncogenic function is set to function by an upregulation caused by the strong promoter of the upstream fusion partner. The latter is common in lymphomas, where oncogenes are juxtaposed to the promoters of the immunoglobulin genes. Oncogenic fusion transcripts may also be caused by trans-splicing or read- through events. Since chromosomal translocations play such a significant role in neoplasia, a specialized database of chromosomal aberrations and gene fusions in cancer has been created.
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The activated receptor initiates cell proliferation and survival signals in various precursor blood cells types through RAS p21 protein activator 1, Phospholipase Cβ, STAT5, and extracellular signal-regulated kinases. The FLT3 gene is located on human chromosome 13q12.2. Chromosome translocations between it and ETV6 (chromosome 12p13.2), SPTBN1 (2p16.2), GOLGB1 (3q13.33), or TRIP11 (14q32.12) genes create fusion genes which, it is hypothesized, encode for fusion proteins that have continuously active FLT3 protein-related tyrosine kinase activity and thereby force the uncontrolled proliferation and survival of hematological cells.
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Figure 1. Overview of major interaction with tumor suppressor p14ARF and downstream effects of fusion protein AML1-ETO in M2 acute myeloid leukemia. Elimination of the tumor suppressor ARF gene is often seen in cancer cells. In adult M2 acute myeloblastic leukemia with maturation, ARF expression is suppressed via chromosome translocations that fuse AML1 or Runx1 to an ETO gene. The AML1 or Runx1 gene is in charge of activating transcription of the ARF gene while the ETO protein is involved in transcriptional repression.
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We developed transgenic reporter systems in mouse and fruit fly, which allow us to determine tissue-specific frequencies of various forms of genome instability, e.g., point mutations, deletions, translocations. By crossing the mutational reporter animals with mutants harboring specific defects in various genome maintenance pathways, the relevance of these pathways for the accumulation of specific forms of genome instability is assessed, in relation to the pathophysiology of aging. Similarly, by using knockdown approaches we assess the effect of specific genes implicated in longevity and healthy aging, e.g.
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Southwestern Naturalist 46: 106–113. For species that have declined over large areas and long periods of time translocations are of little use. Maintaining a large and widely dispersed population of amphibians and other species is the most important aspect of maintaining regional diversity and translocation should only be attempted when a suitable unoccupied habitat exists. Among plants, the translocation of Narcissus cavanillesii during the construction of the largest European dam (Alqueva dam) is considered one of the best known examples of a successful translocation in plants .
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He is a co-founder of two start-up companies, Orbit Discovery and of Quadrucept Bio. His research has focussed on antibody and T cell receptor gene diversity, gene rearrangement and aberrant rearrangement of chromosomes (chromosomal translocations) in cancer. He pioneered the method of cDNA cloning, an approach universally used in bioscience and biotechnology, and elucidated the organization, diversity and rearrangement of human antibody genes, which defined the building blocks for construction of therapeutic antibody repertoires. He also pioneered chimaeric antibodies (with the late Michael Neuberger).
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Efforts have been made in associating copy number variations with specific haplotype SNPs by analyzing the linkage disequilibrium, using these associations, one is able to recognize copy number variations in the genome using SNPs as markers. Next- generation sequencing techniques including short and long read sequencing are nowadays increasingly used and have begun to replace array-based techniques to detect copy number variations. In contrast to array-based techniques, sequencing-based detection methods readily identify other classes of structural variation such as inversions and translocations.
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If syndrome-based diagnosis is unsound on account of its absence of objectivity then it must be generally unsound and not only for psychiatry. # Szasz's ostensibly exclusive criterion of disease as morphological abnormality – i.e., a lesion made evident "by post-mortem examination of organs and tissues" – is unsound because it inadvertently includes many conditions that are not considered to be disease by virtue of the fact that they don't produce suffering or disability, e.g., functionally inconsequential chromosomal translocations and deletions, fused second and third toes, dextrocardia.
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RARA, the Retinoic acid receptor alpha gene, is located on human chromosome 17 at position q21.2 (i.e. 17q21.2), consists of 17 exons, and encodes the nuclear retinoic acid receptor alpha (RARA) protein. The RARA protein, when ligand-bound, regulates the expression of genes that are implicated in the control of development, differentiation, apoptosis, myelopoiesis, and the transcription of transcription factors which in turn regulate the transcription of clock genes. Translocations between this 17q21.2 locus and several other loci have been associated with acute promyelocytic leukemia.
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Cre-Lox recombination is a site-specific recombinase technology, used to carry out deletions, insertions, translocations and inversions at specific sites in the DNA of cells. It allows the DNA modification to be targeted to a specific cell type or be triggered by a specific external stimulus. It is implemented both in eukaryotic and prokaryotic systems. The Cre-lox recombination system has been particularly useful to help neuroscientists to study the brain in which complex cell types and neural circuits come together to generate cognition and behaviors.
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However ANNOVAR has default "variant-reduction" schemes that provides a small list of rare and highly predicted deleterious variants. These default settings could be optimized so the output data would display additional variants with decreasing predicted deleterious scores. ANNOVAR is primarily used for identifying variants involved rare diseases where the causal mutation is expected to be rare and highly deleterious. Larger structural variants (SVs) such as chromosomal inversions, translocations, and complex SVs have been shown to cause diseases such as haemophilia A and Alzheimer's.
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Green peafowl of similar mixed origins confiscated from local bird dealers have been released into areas with native wild birds. Bird conservation area, Green Lakes State Park, Manlius, New York Translocations involve moving populations of threatened species into areas of suitable habitat currently unused by the species. There are several reasons for doing this; the creation of secondary populations that act as an insurance against disaster, or in many cases threats faced by the original population in its current location. One famous translocation was of the kakapo of New Zealand.
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If unrepaired, CPD photoproducts can lead to mutations by inaccurate translesion synthesis during DNA replication or repair. The most frequent mutations due to inaccurate synthesis past CPDs are cytosine to thymine (C>T) or CC>TT transition mutations. These are commonly referred to as UV fingerprint mutations, as they are the most specific mutation caused by UV, being frequently found in sun- exposed skin but rarely found in internal organs. Errors in DNA repair of UV photoproducts, or inaccurate synthesis past these photoproducts, can also lead to deletions, insertions and chromosomal translocations.
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Within the recovery plan made in the late 1970s, the idea of translocations was a prominent tool used to increase the population of the Delmarva fox squirrel. The most recent effort allowed for trapping and relocation of the Delmarva fox squirrel to different habitats that would allow them to survive. The major goals were to reduce the probability of extinction, restore ecological diversity, and broaden the involvement of many areas in conservation effort. Eighty-three squirrels were used in this effort and they were all radio-collared for post-release tracking.
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The species is found in only three regions on New Zealand's South Island: the South Branch Hurunui River valley, Hawdon River valley, and the Poulter valley. In addition, there are four translocated populations, found on Maud Island, Blumine Island, Chalky Island, and Mayor Island / Tuhua.Gaze, P., Cash, B. (2008) A history of wildlife translocations in the Marlborough Sounds, Occasional Publication No. 72, Nelson: Department of Conservation In the South Island, the parakeet is predominantly found only in Nothofagus/Fuscospora (beech) forest with some reports from alpine and subalpine tussock and open matagouri shrubland.Harrison, M. (1970).
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Crizotinib (also a ROS1 and c-MET inhibitor) was approved in Aug 2011 by the US FDA for ALK-positive NSCLC. At the time of the discovery of ALK translocations as a molecular driver in NSCLC, crizotinib was being investigated by Pfizer as a potential c-MET inhibitor. Its activity against ALK being known, Pfizer shifted its investigations to focus on this indication, and obtained a full approval 4 years later. Crizotinib's efficacy was proven in phase III trial, PROFILE 1007, when it was compared to then- standard second-line pemetrexed or docetaxel chemotherapy.
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There have been numerous cases of leopards attacking people and livestock in Junnar in recent years with many fatalities. According to field studies, carried out in Junnar, the man-leopard crisis has been brought about not only by development but by the recent translocations of the leopards.The problem is most acute in areas bordering Junnar Forest Division where sugarcane plantations provide a good hiding place for leopards.Shingote, R.J., 2011. THE PREDATORS OF JUNNAR: LOCAL PEOPLES’KNOWLEDGE, BELIEFS AND ATTITUDES TOWARDS LEOPARDS AND LEOPARD CONSERVATION (Doctoral dissertation, Texas A&M; University).
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Island conservation tends to focus on preservation of individual species and their habitats. However, many ecologists caution that ecological and evolutionary processes should be conserved as well. The conservation of island communities as a whole is closely linked to restoration. Active restoration on islands can be done for both animal species (translocations, induced breeding) and plant species (reforestation). Creating goals for restoration can be challenging because it is often impossible to restore the ecosystem to its “historic” or “normal” state, if that state can even be clearly defined.
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Somatic recombination, as opposed to the genetic recombination that occurs in meiosis, is an alteration of the DNA of a somatic cell that is inherited by its daughter cells. The term is usually reserved for large-scale alterations of DNA such as chromosomal translocations and deletions and not applied to point mutations. Somatic recombination occurs physiologically in the assembly of the B cell receptor and T-cell receptor genes (V(D)J recombination), as well as in the class switching of immunoglobulins. Somatic recombination is also important in the process of carcinogenesis.
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The Barbados anole is part of the same group, but Barbados remains a separate, isolated island. The genetic divergence between the different Martinique anole populations is similar to that between other Lesser Antillean anoles consistently recognized as separate species. Another Lesser Antillean species, the Guadeloupean anole, has several distinct populations that generally are recognized as subspecies. However, Guadeloupean anoles exhibit high individual variability and the populations widely intergrade, something that possibly has been enhanced by habitat changes by humans (allowing populations to easier come into contact with each other) and translocations of individuals.
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Legal protection in the form of longer prison sentences for poachers caught with New Zealand protected species has been increased in recent years and translocations of various species to pest free islands have been undertaken with mixed results, but the task of saving these animals remains daunting. The behavioural and visually cryptic nature of these animals also pose challenges to their conservation management. The genus is, in general, in "dire need of research, particularly into factors that are causing their apparent decline", certain aspects of which remain unexplained.
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The overlap defines the resolution of detectable features. For example, if the goal of an experiment is to detect the breakpoint of a translocation, then the overlap of the probes — the degree to which one DNA sequence is contained in the adjacent probes — defines the minimum window in which the breakpoint may be detected. The mixture of probe sequences determines the type of feature the probe can detect. Probes that hybridize along an entire chromosome are used to count the number of a certain chromosome, show translocations, or identify extra-chromosomal fragments of chromatin.
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Human chromosome translocations between the PDGFRB gene and at least any one of 30 genes on other chromosomes lead to myeloid and/or lymphoid neoplasms that are many ways similar to the neoplasm caused by the fusion of the PDGFRA (i.e. platelet derived growth factor receptor A or alpha-type-platelet derived growth factor receptor) gene with the FIP1L1 gene (see FIP1L1-PDGFRA fusion gene. The most common of these rare mutations is the translocation of PDGFRB gene with the ETV6 gene (also termed ETS variant gene 6).
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The human gene has been shown to fuse to several genes following chromosome translocations in acute myelogenous leukemia (AML) and T-cell acute lymphocytic leukemia (T-ALL). This gene is one of several genes located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described.
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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.
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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.
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Basic karyotyping showed structural chromosomal rearrangements in 50-75% of T-ALL patients, primarily inversion and translocations. Diagnostic yield can be substantially increased through further diagnosis through Fluorescent In Situ Hybridization (FISH) and other various molecular technologies, for example Single Nucleotide Polymorphism (SNP) array. The most common structural abnormality is rearrangement of the TCR gene. 95% of T-Cell TCR consist of an alpha and beta chain (encoded by TRA and TRB, respectively), where only 5% of T-Cell TCR consists of gamma and delta chains (encoded by TRG and TRD, respectively).
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Lipoma-preferred partner is a subfamily of LIM domain proteins that are characterized by an N-terminal proline rich region and three C-terminal LIM domains. The encoded protein localizes to the cell periphery in focal adhesions and may be involved in cell-cell adhesion and cell motility. This protein also shuttles through the nucleus and may function as a transcriptional co-activator. This gene is located at the junction of certain disease related chromosomal translocations which result in the expression of fusion proteins that may promote tumor growth.
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Chromosome 21 from Human Genome ProgramNormal human Karyotype. Down syndrome is a chromosomal abnormality characterized by the presence of an extra copy of genetic material on chromosome 21, either in whole (trisomy 21) or part (such as due to translocations). The effects of the extra copy varies greatly from individual to individual, depending on the extent of the extra copy, genetic background, environmental factors, and random chance. Down syndrome can occur in all human populations, and analogous effects have been found in other species, such as chimpanzees and mice.
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The Myc family was first established after discovery of homology between an oncogene carried by the Avian virus, Myelocytomatosis (v-myc; ) and a human gene over- expressed in various cancers, cellular Myc (c-Myc). Later, discovery of further homologous genes in humans led to the addition of n-Myc and l-Myc to the family of genes. The most frequently discussed example of c-Myc as a proto-oncogene is its implication in Burkitt's lymphoma. In Burkitt's lymphoma, cancer cells show chromosomal translocations, most commonly between chromosome 8 and chromosome 14 [t(8;14)].
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The ETV6 gene is prone to develop a wide range of acquired mutations in hematological precursor cells that lead to various types of leukemia and/or lymphoma. It may also suffer a smaller number of mutations in non- hematological tissues that leads to solid tumors. These mutations involve chromosome translocations which fuse the ETV6 on chromosome 12's the short (i.e. "p") arm ("q" stands for long arm) at position p13.2 (site notation: 12p12.2) near to a second gene on another chromosome or, more rarely, its own chromosome.
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AFF2/FMR2, AFF3/LAF4 and AFF4/AF5q31 localize in nuclear speckles (subnuclear structures considered to be storage/modification sites of pre-mRNA splicing factors) and are able to bind RNA with a high apparent affinity for the G-quadruplex structure. They appear to modulate alternative splicing via the interaction with the G-quadruplex RNA-forming structure. The other members of this family have been reported to form fusion genes as a consequence of chromosome translocations and are involved in the pathogenesis of myeloid/lymphoid or mixed lineage leukemia.
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Introduced mammalian predators, particularly brown rats, were the primary cause of the North Island saddleback's extinction from mainland New Zealand. Saddlebacks are particularly suspectable to predation because of their tendency to roost and nest in low-lying areas. Several translocations of North Island saddlebacks were made to Kapiti Island between 1981 and 1990, but the population suffered high mortality due to rat predation (rats were not eradicated until 1998). Today, North Island saddleback populations are usually found on predator-free islands and in sanctuaries protected by pest fences, affording the birds protection from these predators.
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It is also listed as Endangered by the Nature Conservation Ordinance of Western Cape Province. It is illegal to kill Twee River redfins and for the time being, it may only be caught for supervised transfer trials to other habitat. Landowners are being educated about the uniqueness of the rivers' ecosystem and the threat posed by advancing cultivation right to the riverbank. As mentioned above, some translocations of this species to presumably secure areas have been started, and captive breeding studies are being undertaken at the University of Johannesburg.
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In Boston, USA 55% of 47,XYY boys (6 of 11) identified in a newborn screening program had learning difficulties and received part-time resource room help compared to 11% (1 of 9) in an above-average-IQ control group of 46,XY boys with familial balanced autosomal chromosome translocations. Developmental delays and behavioral problems are also possible, but these characteristics vary widely among affected boys and men, are not unique to 47,XYY and are managed no differently from in 46,XY males. Aggression is not seen more frequently in 47,XYY males.
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Since 2016, Harry has been working with Terrence Higgins Trust to raise awareness about HIV and sexual health. On 27 December 2017, Harry was officially appointed the new president of African Parks, a conservation NGO. He previously spent three weeks in Malawi with African Parks where he joined a team of volunteers and professionals to carry out one of the largest elephant translocations in history. The effort to repopulate areas decimated due to poaching and habitat loss moved 500 elephants from Liwonde and Majete National Parks to Nkhotakota Wildlife Reserve.
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This population was established by NSW Fisheries translocations of juvenile fish from drying billabongs in the lower Murrumbidgee River in approximately 1915–17. The Cataract Dam population is unique in being the only population of silver perch in an artificial impoundment that regularly and successfully recruits and is self-sustaining. The long established prohibition on fishing, the consequent absence of exotic fish and their diseases, and the pristine nature of the dam, including an abundance of coarse rubble and gravel in many inshore areas where fertilised eggs can settle and not be smothered by silt, are all likely contributors to this unique situation.
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Genetic alterations involving gains or loss of entire chromosomes predominantly occur during anaphase stage of cell division. But these are uncommon in somatic cells because they are usually selected against due to their deleterious consequences. Somatic variations during embryonic development can be represented by monozygous twins since they carry different copy number profiles and epigenetic marks that keep on increasing with age. Early research on somatic mutations in aging showed that deletions, inversion and translocations of genetic material are common in aging mice and aging genomes tend to contain visible chromosomal changes, mitotic recombination, whole gene deletions, intragenic deletions and point mutations.
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Interest in using BET inhibitors in cancer began with the observation that chromosomal translocations involving BET genes BRD3 and BRD4 drove the pathogenesis the rare cancer NUT midline carcinoma. Subsequent research uncovered the dependence of some forms of acute myeloid leukemia, multiple myeloma and acute lymphoblastic leukemia on the BET protein BRD4, and the sensitivity of these cancers to BET inhibitors. In many cases, expression of the growth promoting transcription factor Myc is blocked by BET inhibitors. BRD2 and BRD3 are functionally redundant and may be more important as therapeutic targets than is appreciated in studies depleting each BET protein individually.
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Revitalised and self-governing natural processes, particularly flooding and natural grazing, will govern landscape formation, driving other natural processes, wildlife comeback, increased biodiversity and the development of a nature-based economy. The Danube Delta rewilding area is part of the Tauros breeding programme, managed by the Taurus Foundation and Rewilding Europe. The aim of the programme is to bring back a functional, wild version of the aurochs – called the Tauros – by establishing viable wild populations of this animal in several European locations. Due to translocations in 2016 and 2017, the number of Tauros grazing near Sfantu Gheorghe is now 18 animals.
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Mutations in this gene have been associated with several diseases, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, and postaxial polydactyly types A1 and B. DNA copy-number alterations that contribute to increased conversion of the oncogenes Gli1–3 into transcriptional activators by the Hedgehog signaling pathway are included in a genome-wide pattern, which was found to be correlated with an astrocytoma patient's outcome. There is evidence that the autosomal dominant disorder Greig cephalopolysyndactyly syndrome (GCPS) that affects limb and craniofacial development in humans is caused by a translocations within the GLI3 gene.
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In 2001, the WHO Classification of Myeloid Neoplasms was published, classifying CMML into a new group of diseases, the myelodysplastic/myeloproliferative neoplasms (MDS/MPN), reflecting the disease's neoplastic nature. Other diseases in this category are juvenile myelomonocytic leukaemia, atypical CML; BCR-ABL1 negative and MDS/MPD unclassifiable. These MDS/MPN overlap syndromes have effective production of some lineages of blood cells, but show ineffective proliferation of other lineages. The 2008 revision of the classification moved cases of CMML with PDGFR gene translocations to a new group, myeloid/lymphoid neoplasms with eosinophilia with abnormalities of PDGFRA, PDGFRB or FGFR1.
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Tumors of the hematopoietic and lymphoid tissues (American English) or tumours of the haematopoietic and lymphoid malignancies (British English) are tumors that affect the blood, bone marrow, lymph, and lymphatic system. Because these tissues are all intimately connected through both the circulatory system and the immune system, a disease affecting one will often affect the others as well, making myeloproliferation and lymphoproliferation (and thus the leukemias and the lymphomas) closely related and often overlapping problems. While uncommon in solid tumors, chromosomal translocations are a common cause of these diseases. This commonly leads to a different approach in diagnosis and treatment of haematological malignancies.
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Bcl-2 (B-cell lymphoma 2), encoded in humans by the BCL2 gene, is the founding member of the Bcl-2 family of regulator proteins that regulate cell death (apoptosis), by either inhibiting (anti-apoptotic) or inducing (pro-apoptotic) apoptosis. It was the first apoptosis regulator identified in any organism. Bcl-2 derives its name from B-cell lymphoma 2, as it is the second member of a range of proteins initially described in chromosomal translocations involving chromosomes 14 and 18 in follicular lymphomas. Orthologs (such as Bcl2 in mice) have been identified in numerous mammals for which complete genome data are available.
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Non-homologous end joining can also join two different chromosomes together that had broken ends. The reason non-reciprocal translocations are dangerous is the possibility of producing a dicentric chromosome – a chromosome with two centromeres. When dicentric chromosomes form, a series of events can occur called a breakage-fusion-bride cycle: Spindle fibers attach onto both centromeres in different locations on the chromosome, thereby tearing the chromatid into two pieces during anaphase. The result is a pair of DNAs with broken ends that can attach to other broken- ended DNA segments creating additional translocation and continue the cycle of chromosome breakage and fusion.
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Microhomology-mediated end joining (MMEJ), also known as alternative nonhomologous end-joining (Alt-NHEJ) is one of the pathways for repairing double-strand breaks in DNA. As reviewed by McVey and Lee, the foremost distinguishing property of MMEJ is the use of microhomologous sequences during the alignment of broken ends before joining, thereby resulting in deletions flanking the original break. MMEJ is frequently associated with chromosome abnormalities such as deletions, translocations, inversions and other complex rearrangements. There are multiple pathways for repairing double strand breaks, mainly non-homologous end joining (NHEJ), homologous recombination (HR), and MMEJ.
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Allotoca is a genus of splitfins that are endemic to west-central and southwest Mexico, where restricted to the Lerna–Chapala–Grande de Santiago, Ameca and Balsas river basins, as well as various endorheic lake basins in Michoacán and Jalisco (Pátzcuaro, Zirahuén, Cuitzeo, Magdalena and others). All Allotoca species are seriously threatened. The largest Allotoca is up to long, but most species only reach between half and three-quarter that size. Unusually, A. catarinae is probably the result of an ancient translocation by humans in the pre-Columbian era (similar ancient human-assisted translocations are known from certain birds in Mexico).
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The neoplastic cells in a related variant, double expresser lymphoma (i.e. DEL), express the products of MYC and BCL2 genes, i.e. c-Myc and bcl-2 proteins, respectively, but do not have translocations in either of their genes. DEL, which represents about one-third of all DLBCL, NOS cases, has a poorer prognosis than standard DLBCL, NOS but not as poor as DH/THL cases. Cases in which the neoplastic cells have alterations in the MYC gene or its expression without changes in BLC2 or BLC6 also have a poor prognosis, particularly in cases where the MYC gene translocates (i.e.
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Chen's research is focused on molecular genetics and especially the cytogenetics of leukemia, and she has made important discoveries on the pathogenesis and therapy of leukemia on the cellular and molecular level. She cloned the m-BCR (minor breakpoint cluster region) of the BCR gene and discovered a new type of APL (acute promyelocytic leukemia) and new "nonrandom chromosomal translocations" of leukemia. Based on her discoveries, she developed a new therapy that turned previously fatal APL into a highly curable disease, and made progress toward curing other types of leukemia. She has published more than 300 research papers in peer-reviewed journals.
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Eastern Egg Rock Island in Muscongus Bay, about away from Pemaquid Point, had been occupied by nesting puffins until 1885, when the birds disappeared because of overhunting. Counting on the fact young puffins usually return to breed on the same island where they fledged, a team of biologists and volunteers translocated 10– to 14-day-old nestlings from Great Island in Newfoundland to Eastern Egg Rock. The young were placed into artificial sod burrows, and fed with vitamin- fortified fish daily for about one month. Such yearly translocations took place until 1986, with 954 young puffins being moved in total.
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Not all translocations succeed, and it may be necessary to help the reintroduced animals along with supplementary feeding or other kinds of management. One other important aspect of restoration is prevention, that is, keeping invasive species from returning to a cleared island. This can be achieved by restricting access to the island in question (reducing possible instances of invasion) to more stringent quarantine methods. For example, in order to prevent invasive weeds from returning to Laysan, people working on the island must bring entirely new clothes to the island, which must be frozen prior to arrival.
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Cellular DNA integrity is often compromised in cancer. Genome instability can refer to the accumulation of extra copies of DNA/chromosomes, chromosomal translocations, chromosomal inversion, chromosome deletions, single stranded breaks in DNA, double stranded breaks in DNA, the intercalation of foreign substances into the DNA double helix, or any abnormal changes in DNA tertiary structure that can cause either the loss of DNA, or the misexpression of genes. It appears that H19 expression is tightly linked to the ploidy of the cell. Diploid liver cells express high levels of H19, whereas the polyploid cell fraction do not express H19.
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She also identified translocation between chromosomes 8 and 21 in acute myelogenous leukemia, and between 15 and 17 in promyelocytic leukemia. Rowley also aided in the discovery, through her research, of the formation of retinoid acid, a drug that is able to help return normal function to certain protein receptors. The first chromosomal translocation was discovered by Rowley in 1972 in acute myelogenous leukemia. When Dr. Rowley published her findings in the 1970s, she argued that specific translocations caused specific diseases, going against the established view of the cause of cancer which gave little significance to chromosomal abnormalities.
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The concept of "programmed cell-death" was used by Lockshin & Williams in 1964 in relation to insect tissue development, around eight years before "apoptosis" was coined. The term PCD has, however, been a source of confusion and Durand and Ramsey have developed the concept by providing mechanistic and evolutionary definitions. PCD has become the general terms that refers to all the different types of cell death that have a genetic component. The first insight into the mechanism came from studying BCL2, the product of a putative oncogene activated by chromosome translocations often found in follicular lymphoma.
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Indian Rhinoceros In 2007, in partnership with the Assam Forest Department, WWF India, and the USFWS, the International Rhino Foundation embarked on an ambitious project, Indian Rhino Vision 2020, with the aim of increasing the population of Indian rhinos in Assam to 3,000 in at least seven protected areas by the year 2020. The first translocations, from Pabitora to Manas National Park, took place in April 2008. Animals were radio- collared and regularly monitored to gauge the success of the reintroduction process. Joint government/community patrol units regularly patrolled the park to prevent poaching and encroachment and to monitor the new rhino population.
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Apart from causing defects in DNA repair, its aberrant association with p53 down-regulates the function of p53, leading to a reduction in p53-dependent apoptosis and increasing the survival of these dysfunctional cells. Cells of affected individuals also have reduced lifespan in culture, have more chromosome breaks and translocations and have extensive deletions. Patients with Werner syndrome lose the RecQ helicase activity in the WRN protein because of the loss of its C-terminus region, but the mechanism by which this happens is unclear. The loss of the helicase activity can have far-reaching consequences in terms of cell stability and mutation.
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Recent projects have included the successful translocations to the island of diving-petrels, fairy prions and fluttering shearwater chicks, with the progeny of several transferees later successfully fledging – the first to do so on Mana Island for many centuries. These species are an important part of the restoration of the island because of their nutrient inflows (free fertiliser) and the habitats their burrows provide for reptiles and invertebrates. The seabird translocation techniques perfected on Mana Island are being used with rare and endangered species elsewhere in New Zealand, such as the Chatham Island taiko, Chatham petrel and Hutton's shearwater. Gannets formerly nested on Mana Island.
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Daniel A. Potter, Jennifer S. Hanin, Pamela (FRW) Madsen, What to do when you can't get pregnant, 2005, p.228 The institute is also the first develop a test to detect chromosome translocations in human embryos to increase the success rate and avoid genetic disorder. The work received the general Program Prize of the American Society for Reproductive Medicine in 1996. Another PDG work on aneuploidy also received the prize paper of the Society for Assisted Reproductive Technology in 1998Santiago Munne , INCIID - accessed July 18, 2009 Other research areas at the Institute include oocyte cryopreservation, embryo cryopreservation, micromanipulative procedures to improve embryo development and implantation, and embryo selection protocols.
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The South Island robin is listed as being of least concern on the IUCN Red List. However, the Stewart Island robin (Petroica australis rakiura) has gone through a couple of bottlenecked populations recently because of deforestation and habitat loss, as well as introduced predators, such as rats, stoats, and feral cats. Because of this sharp decline in the Stewart Island population, several attempts have been made to translocate the Stewart Island robin to other islands nearby where introduced predators do not exist or have been eradicated (see above). However, many of these translocations have involved 12 or fewer colonising individuals, making inbreeding nearly unavoidable.
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Beaver ponds are associated with high cutthroat trout (Oncorhynchus clarki) populations in a study of successful translocations into streams in Colorado and New Mexico because they provide deep pond refugia for adult trout in small headwater streams. Prior to the arrival of European inhabitants and fish species declines probably related to logging and overgrazing, Martis Creek was an important year-round fishery for the Washoe people. Fishery resources included Lahontan cutthroat trout (Oncorhynchus clarki henshawi) (LCT) and a variety of smaller species, such as sucker and chub. In June 1978 the California Department of Fish and Game stocked LCT in Martis Creek Reservoir, after reducing non-native resident trout using piscicides.
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Cells of Bloom syndrome patients show a high frequency of reciprocal exchange between sister chromatids (SCEs) and excessive chromosomal damage. There is evidence to suggest that BLM plays a role in rescuing disrupted DNA replication at replication forks. Werner syndrome is a disorder of premature aging, with symptoms including early onset of atherosclerosis and osteoporosis and other age related diseases, a high occurrence of sarcoma, and death often occurring from myocardial infarction or cancer in the 4th to 6th decade of life. Cells of Werner syndrome patients exhibit a reduced reproductive lifespan with chromosomal breaks and translocations, as well as large deletions of chromosomal components, causing genomic instability.
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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.
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PDGFRA-associated eosinophilic neoplasms are the most common forms of clonal eosinophilia, accounting for some 40% to 50% of all cases. The PDGFRA gene encodes the platelet-derived growth factor receptor A (PDGFRA) which is a cell surface, RTK class III Receptor tyrosine kinase. PDGFRA, through its tyrosine kinase activity, contributes to the growth, differentiation, and proliferation of cells. Chromosome translocations between the PDGFRA gene and either the FIP1L1, KIF5B, CDK5RAP2, STRN, ETV6, FOXP1, TNKS2, BCR or JAK2 gene create a fusion gene which codes for a chimeric protein consisting of the tyrosine kinase portion of PDGFRA and a portion of these other genes.
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The ABL1 gene encodes a non-receptor tyrosine kinase termed Abelson murine leukemia viral oncogene homolog 1. Among its numerous effects on cellular function, the ABL1 kinase- regulates cell proliferation and survival pathways during development. It mediates at least in part the cell proliferating signaling stimulated by PDGF receptors as well as by antigen receptors on T cell and B cell lymphocytes. The ABL1 gene is located on human chromosome 9q34.12; translocations between it and the BCR gene on human chromosome 22q11.23 create the well-known t(9;22)(q34;q11) BCR-ABL1 fusion gene responsible for Philadelphia chromosome positive chronic myelogenous leukemia and chronic lymphocytic leukemia.
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Developed behind the pathway of RNA polymerase through negative supercoiling, Z-DNA formed via active transcription has been shown to increase genetic instability, creating a propensity towards mutagenesis near promoters. A study on Escherichia coli found that gene deletions spontaneously occur in plasmid regions containing Z-DNA-forming sequences. In mammalian cells, the presence of such sequences was found to produce large genomic fragment deletions due to chromosomal double-strand breaks. Both of these genetic modifications have been linked to the gene translocations found in cancers such as leukemia and lymphoma, since breakage regions in tumor cells have been plotted around Z-DNA-forming sequences.
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There are multiple levels of genetic heterogeneity associated with cancer, including single nucleotide polymorphism (SNP), sequence mutations, Microsatellite shifts and instability, loss of heterozygosity (LOH), Copy number variation (detected both by comparative genomic hybridization (CGH), and array CGH,) and karyotypic variations including chromosome structural aberrations and aneuploidy. Studies of this issue have focused mainly at the gene mutation level, as copy number variation, LOH and specific chromosomal translocations are explained in the context of gene mutation. It is thus necessary to integrate multiple levels of genetic variation in the context of complex system and multilevel selection. System instability is a major contributing factor for genetic heterogeneity.
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The fusion proteins formed by these translocations lack the DNA-binding domain, causing the protein to lose function. In gastric cancers (GC), it has been observed that there were lower levels of FOXO4 mRNA in cancers that had already progressed to invading lymph nodes compared to cancers that remained in situ. When compared to normal tissue, all GC epithelia had lower levels of FOXO4 located in the nucleus, consistent with less FOXO4 effector activity and FOXO4's function as a suppressor of carcinogenic properties. It does this by causing cell cycle arrest between the Go and S phases, preventing cell proliferation, as well as by inhibiting metastasis by downregulating vimentin.
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The first mechanism has the greatest effects on fitness for polyploids, an intermediate effect on translocations, and a modest effect on centric fusions and inversions. Generally this mechanism will be more prevalent in the first generation (F1) after the initial outcrossing when most individuals are made up of the intermediate phenotype. An extreme case of this type of outbreeding depression is the sterility and other fitness-reducing effects often seen in interspecific hybrids (such as mules), which involves not only different alleles of the same gene but even different orthologous genes. Examples of the second mechanism include stickleback fish, which developed benthic and lymnetic forms when separated.
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A fresh opposition to the plan resulted in the formation of a number of community- based conservation groups, one of them successfully filing a case in the Kenyan High Court against any future translocation. Nevertheless, the translocations had resulted in an isolated and viable ex situ population of perhaps 120 Hirola antelopes in Tsavo East National Park. In 2005, with the aim to conserve the Hirola as part of their natural and cultural heritage, four local communities (Kotile, Korisa, Hara and Abaratilo), supported by the Northern Rangelands Trust, Northern Rangelands Trust developed and put forward a proposal to the government of Kenya to establish the Ishaqbini Hirola Conservancy.
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End-sequence profiling (ESP) (sometimes "Paired-end mapping (PEM)") is a method based on sequence-tagged connectors developed to facilitate de novo genome sequencing to identify high-resolution copy number and structural aberrations such as inversions and translocations. Work flow of End-sequence profiling Briefly, the target genomic DNA is isolated and partially digested with restriction enzymes into large fragments. Following size-fractionation, the fragments are cloned into plasmids to construct artificial chromosomes such as bacterial artificial chromosomes (BAC) which are then sequenced and compared to the reference genome. The differences, including orientation and length variations between constructed chromosomes and the reference genome, will suggest copy number and structural aberration.
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It is now found naturally only in Australia on the Franklin Islands, with introduced or reintroduced populations on St Peter Island in the Nuyts Archipelago, Reevesby Island, Salutation Island, and a fenced off area at Roxby Downs in South Australia. Reintroduction attempts at Faure Island and Heirisson Prong in WA, Yookamurra Sanctuary and Venus Bay Conservation Park in SA, and Scotia Sanctuary in NSW all failed. The longterm success of a series of translocations to the fenced Mt Gibson Sanctuary in WA is as yet undetermined. The species is scheduled to be reintroduced to Dirk Hartog Island, following the complete removal of livestock and feral cats from the island.
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The autosomes includes three large and one very small pairs of metacentrics, with two long arms, and twelve small to medium-sized acrocentric pairs, which have a long and a very short arm. The X chromosome is medium-sized and subtelocentric, with a long and a short arm, and the Y chromosome is very small and is acrocentric in Jujuy specimens, but metacentric in those from Tucumán. The karyotype is separated from that of A. lutescens by three Robertsonian translocations. Members of the Akodon boliviensis group, including A. caenosus, are generally similar and difficult to separate, but they differ in relative cranial measurements and some other characters.
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Habitat protection and management is seen as the most important element for the conservation of Triturus newts. This includes preservation of natural water bodies, reduction of fertiliser and pesticide use, control or eradication of introduced predatory fish, and the connection of habitats through sufficiently wide corridors of uncultivated land. A network of aquatic habitats in proximity is important to sustain populations, and the creation of new breeding ponds is in general very effective as they are rapidly colonised when other habitats are nearby. In some cases, entire populations have been moved when threatened by development projects, but such translocations need to be carefully planned to be successful.
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Milne was director of the Sir Harold Hillier Gardens and Arboretum from 2000 to 2004 and chief executive of the Scottish Wildlife Trust from October 2004 until February 2014. Starting in 2007, he co-led the trial reintroduction of the European beaver to Scotland, with the Scottish Wildlife Trust working alongside the Royal Zoological Society of Scotland. He is the founder of the World Forum on Natural Capital and has specific interest and expertise in translocations, public engagement with the natural environment, biodiversity conservation and ecosystem scale approach. Milne was appointed the 16th Regius Keeper of the Royal Botanic Garden Edinburgh in February 2014, replacing botanist Stephen Blackmore.
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That imprinting might be a feature of mammalian development was suggested in breeding experiments in mice carrying reciprocal chromosomal translocations. Nucleus transplantation experiments in mouse zygotes in the early 1980s confirmed that normal development requires the contribution of both the maternal and paternal genomes. The vast majority of mouse embryos derived from parthenogenesis (called parthenogenones, with two maternal or egg genomes) and androgenesis (called androgenones, with two paternal or sperm genomes) die at or before the blastocyst/implantation stage. In the rare instances that they develop to postimplantation stages, gynogenetic embryos show better embryonic development relative to placental development, while for androgenones, the reverse is true.
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To achieve this goal, biologists plan to establish at least five populations on a combination of predator-free Northwestern Hawaiian Islands and predator-controlled sites on Main Hawaiian Islands. This plan includes wild translocation and the establishment of a successful captive or semi-captive breeding program using wild source eggs for reintroductions to the Main Hawaiian Islands. Additionally, the plan calls for achieving gene flow between the wild source populations through long-term inter-island translocations, and island-specific management for each population to reduce threats and improve quality of habitat. If basic criteria of the recovery plan are met, the Laysan duck could be down-listed from endangered to threatened by 2019.
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The hirola's natural range is an area of no more than 1,500 km2 on the Kenyan-Somali border, but there is also a translocated population in Tsavo East National Park. The natural population in the 1970s was likely to number 10,000–15,000 individuals but there was an 85–90% decline between 1983 and 1985. A survey in 1995 and 1996 estimated the population to number between 500 and 2,000 individuals with 1,300 as the most reasonable estimate. A 2010 survey estimated a population of 402–466 hirola. A translocated population was established in Kenya's Tsavo East National Park with translocations in 1963 and 1996 (Hofmann, 1996; Andanje & Ottichilo, 1999; Butynski,1999; East, 1999).
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Eighty-seven species of birds have been observed on or near the island. Eleven native species have been translocated to the island as part of the ongoing restoration project.Tiritiri Matangi Ecosystem Restoration (from the Department of Conservation website) These are red-crowned parakeet (kākāriki, Cyanoramphus novaezelandiae), North Island saddleback (tīeke, Philesturnus rufusater), brown teal (pāteke, Anas chlorotis), whitehead (pōpokotea, Mohoua albicilla), takahē (Porphyrio hochstetteri), little spotted kiwi (Apteryx owenii), stitchbird (hihi, Notiomystis cincta), North Island kōkako (Callaeas wilsoni), fernbird (mātātā, Poodytes punctatus), North Island tomtit (miromiro, Petroica macrocephala toitoi), and rifleman (titipounamu, Acanthisitta chloris). Non-avian translocations include 60 tuatara in 2003, Duvaucel's gecko in 2006 and a large insect wetapunga in 2011.
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At the base of this heterozygosity lies the occurrence of numeric and structural chromosomal rearrangements and changes as means of generating genetic diversity by chromosome length polymorphisms (contraction/expansion of repeats), reciprocal translocations, chromosome deletions, Nonsynonymous single-nucleotide polymorphisms and trisomy of individual chromosomes. These karyotypic alterations lead to changes in the phenotype, which is an adaptation strategy of this fungus. These mechanisms are further being explored with the availability of the complete analysis of the C. albicans genome. An unusual feature of the genus Candida is that in many of its species (including C. albicans and C. tropicalis, but not, for instance, C. glabrata) the CUG codon, which normally specifies leucine, specifies serine in these species.
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The inactivation of the tumor suppressor gene in ST8 may be crucial for the development of cancer; the homologous regions in humans is the short arm of chromosome 6 for deletions in sporadic ovarian adenocarcinomas. In 91 informative sporadic tumors, 34 lost their heterozygosity, including some benign, low-malignancy potential, and early stage tumors, suggesting that it is an early event in the development of ovarian adenocarcinoma. In different portions of chromosome 6q, there were deletions and translocations which were subsequently reported by cytogenic analyses of primary ovarian carcinomas and ovarian cancer cell lines. Patients with advanced disease who achieved a complete remission documented by peritoneoscopy or laparotomy (or both) have a median survival time exceeding three years.
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By 1992 there were 66 black rhinosBrett RA, "Conservation strategy and management plan for the black rhinoceros (Diceros bicornis)in Kenya", Kenya Wildlife Service, Nairobi, ed. 1993. in the reserve, and this after some 30 individuals had been moved out to help form nucleus populations in other new reserves including Nakuru National Park, Sweetwaters Game Reserve, Lewa Downs Conservancy and Ol Jogi. The rhinos continued to thrive, and by the end of 2005 there had been 67 translocations to other areas. However, at the start of 2000 the reserve became a major target for professional poachers and in a five-year period nine black rhinos were either shot or caught in snares.
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Women with RIF should undergo ovarian function testing to explore their levels of FSH, AMH and any other hormones or follicle counts which may indicate the overall behaviour of the ovarian reserve. Male partners may also be offered laboratory testing of sperm DNA integrity. In the instance of genetic testing, karyotyping may be made available to couples with RIF to exclude the possibility of balanced chromosomal translocations. Ultrasounds may be used to oversee the morphological growth and development of follicles throughout IVF treatment, in addition to assessing endometrial thickness. Hysteroscopy is an essential part of investigating a couple’s RIF pathology and is used as a diagnostic tool to examine the cervical canal and uterine cavity.
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The gene, chromosome, and gene expression abnormalities in IVBCL have not been fully evaluated. Studies to date indicate that the malignant cells in this disease have mutations in their MYD88 (44% of cases) and CD79B (26% of cases) genes. The exact mutation seen in the MYD88 (i.e. L265P) and some or the mutations in CD79B occur in diverse types of lymphoma. Other abnormalities seen in the small numbers of cases that have been studied so far include translocations between chromosome 14 and 18; tandem triplications of both the BCL2 gene located on the long arm of chromosome 18 at position q21 and the KMT2A gene located on the long arm of chromosome 11 between positions 22 and 25.
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The terms "partial monosomy" and "partial trisomy" are used to describe an imbalance of genetic material caused by loss or gain of part of a chromosome. In particular, these terms would be used in the situation of an unbalanced translocation, where an individual carries a derivative chromosome formed through the breakage and fusion of two different chromosomes. In this situation, the individual would have three copies of part of one chromosome (two normal copies and the portion that exists on the derivative chromosome) and only one copy of part of the other chromosome involved in the derivative chromosome. Robertsonian translocations, for example, account for a very small minority of Down syndrome cases (<5%).
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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.
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The PDGFRB gene is located on human chromosome 5 at position q32 (designated as 5q32) and contains 25 exons. The gene is flanked by the genes for granulocyte-macrophage colony-stimulating factor and Colony stimulating factor 1 receptor (also termed macrophage-colony stimulating factor receptor), all three of which may be lost together by a single deletional mutation thereby causing development of the 5q-syndrome. Other genetic abnormalities in PDGFRB lead to various forms of potentially malignant bone marrow disorders: small deletions in and chromosome translocations causing fusions between PDGFRB and any one of at least 30 genes can cause Myeloproliferative neoplasms that commonly involve eosinophilia, eosinophil-induced organ injury, and possible progression to aggressive leukemia (see blow).
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There are at least five human RecQ genes; and mutations in three human RecQ genes are implicated in heritable human diseases: WRN gene in Werner syndrome (WS), BLM gene in Bloom syndrome (BS), and RECQL4 in Rothmund-Thomson syndrome. These syndromes are characterized by premature aging, and can give rise to the diseases of cancer, type 2 diabetes, osteoporosis, and atherosclerosis, which are commonly found in old age. These diseases are associated with high incidence of chromosomal abnormalities, including chromosome breaks, complex rearrangements, deletions and translocations, site specific mutations, and in particular sister chromatid exchanges (more common in BS) that are believed to be caused by a high level of somatic recombination.
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Usually, all cells in an individual in a given species (plant or animal) show a constant number of chromosomes, which constitute what is known as the karyotype defining this species (see also List of number of chromosomes of various organisms), although some species present a very high karyotypic variability. In humans, mutations that would change an amino acid within the protein coding region of the genome occur at an average of only 0.35 per generation (less than one mutated protein per generation). Sometimes, in a species with a stable karyotype, random variations that modify the normal number of chromosomes may be observed. In other cases, there are structural alterations (chromosomal translocations, deletions ...) that modify the standard chromosomal complement.
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In cancer, genome instability can occur prior to or as a consequence of transformation. Genome instability can refer to the accumulation of extra copies of DNA or chromosomes, chromosomal translocations, chromosomal inversions, chromosome deletions, single-strand breaks in DNA, double-strand breaks in DNA, the intercalation of foreign substances into the DNA double helix, or any abnormal changes in DNA tertiary structure that can cause either the loss of DNA, or the misexpression of genes. Situations of genome instability (as well as aneuploidy) are common in cancer cells, and they are considered a "hallmark" for these cells. The unpredictable nature of these events are also a main contributor to the heterogeneity observed among tumour cells.
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The above factors, which have in the past led to the extinction of the Richmond River cod and the Brisbane River cod and the endangerment of the Mary River cod, have reduced the eastern freshwater cod from an abundant fish found in all parts of the Clarence River system to an endangered fish absent from most parts of it. It survives only in limited, remote parts of the Nymboida/Mann and Guy Fawkes/Sara sections. The latter population is now at risk of severe inbreeding depression and is in need of "genetic rescue" via translocation of genetically differing fish from the former, more diverse population. Currently there are no management plans to undertake such translocations.
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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.
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Introductions of the Cook Strait giant weta to Mana Island in 1976, Matiu / Somes Island in 1996, and, most recently, Zealandia Wildlife Sanctuary in the North Island in 2007 have helped to greatly expand this vulnerable species’ range. In addition, on Mana Island, the removal of cattle and eradication of mice has dramatically increased Cook Strait giant weta abundance. With the success of these introductions, the New Zealand Department of Conservation plans to continue to introduce the Cook Strait giant weta to new island habitats, while ensuring that its existing island habitats remain protected against the threat of predator invasion. The Matiu-Somes Island transfer was undertaken in 1996 with two separate translocations taking place.
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The species was listed as Endangered by the IUCN in 1982, and by 1984 the National Zoological Park in Washington, D.C. and the World Wide Fund for Nature, through the Golden Lion Tamarin Association, began a reintroduction programme from 140 zoos worldwide. Despite the success of the project, the IUCN classification rose to Critically Endangered in 1996. By 2003 the successful establishment of a new population at União Biological Reserve enabled downgrading the species to endangered,Translocations of golden lion tamarins – history and status as of May 2006 but the IUCN warns that extreme habitat fragmentation from deforestation means the wild population has little potential for any further expansion. In an attempt to curb the golden lion tamarin's precipitous decline, several conservation programs have been undertaken.
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Up to 10% of invasive cancers are related to radiation exposure, including both non-ionizing radiation and ionizing radiation. Unlike chemical or physical triggers for cancer, ionizing radiation hits molecules within cells randomly. If it happens to strike a chromosome, it can break the chromosome, result in an abnormal number of chromosomes, inactivate one or more genes in the part of the chromosome that it hit, delete parts of the DNA sequence, cause chromosome translocations, or cause other types of chromosome abnormalities. Major damage normally results in the cell dying, but smaller damage may leave a stable, partly functional cell that may be capable of proliferating and developing into cancer, especially if tumor suppressor genes were damaged by the radiation.
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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.
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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.
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There are multiple genetic lesions associated with rhabdomyosarcoma, but there has been little consistent data demonstrating an association between specific genetic abnormalities and outcome. However, alveolar and embryonal types of RMS can be distinguished cytogenetically, and identification of specific genetic lesions can allow for accurate classification of the ARMS subtype when the histopathological findings are equivocal or unclear. This is valuable for clinical practice as the alveolar type presents a higher risk to the patient and will often require more aggressive treatment than the embryonal type. Thus, ARMS is also referred to as Fusion Positive rhabdomyosarcoma (FP-RMS). Up to 90% of alveolar RMS cases present with a translocations of t(2;13)(q35, q14) or, less commonly, t(1;13)(p36, q15).
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The PDGFRB gene encodes the platelet-derived growth factor receptor B (PDGFRB) which, like PDGFRA, is a cell surface, RTK class III Receptor tyrosine kinase. PDGFRA, through its tyrosine kinase activity, contributes to the growth, differentiation, and proliferation of cells. Chromosome translocations between the PDGFRB gene and either the CEP85L, HIP1, KANK1, BCR, CCDC6, H4D10S170), GPIAP1, ETV6, ERC1, GIT2, NIN, TRIP11, CCDC88C TP53BP1, NDE1, SPECC1, NDEL1, MYO18A, BIN2, COL1A1, DTD1 CPSF6, RABEP1, MPRIP, SPTBN1, WDR48, GOLGB1, DIAPH1, TNIP1, or SART3 gene create a fusion gene which codes for a chimeric protein consisting of the tyrosine kinase portion of PDGFRB and a portion of the other cited genes. The fusion protein has uninhibited tyrosine kinase activity and thereby continuously stimulates cell growth and proliferation.
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Painting of Hugo de Vries, making a painting of an evening primrose, which had apparently produced new forms by large mutations in his experiments, by Thérèse Schwartze, 1918 The pattern of repeated colonizations resulted in a unique genetic conformation in the Euoenothera whereby the chromosomes at meiosis can form circles rather than pairs. This is the result of several reciprocal translocations between chromosomes such that the pairing occurs only at the tips. This phenomenon apparently has non-Mendelian genetic consequences; with this mode of chromosome segregation and a system of balanced-lethal genes, genetic recombination is prevented and the plants display the hybrid vigor of heterosis. This resulted in the evolution of many sympatric races in North America east of the Rocky Mountains.
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Genetic analysis has confirmed unique sequences of mtDNA, classifying the Japanese raccoon dog as a distinct isolation species, based on evidence of eight Robertsonian translocations. The International Union for Conservation of Nature Canid Group's Canid Biology and Conservation Conference in September 2001 rejected the classification of the Japanese raccoon dog as a separate species, but its status is still disputed, based on its elastic genome. The karyotype of Japanese raccoon dogs is different from that of the mainland raccoon dogs. Though it is unknown whether mainland raccoon dogs and Japanese raccoon dogs can produce fertile offspring, it is assumed that the chromosomal differences between them would have deleterious effects on the fertility of the potential offspring and this would be indicative of speciation.
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The success story of the Western Shield program has been tarnished by more recent developments. The woylie has been added back to WA's list of threatened fauna due to the sharp declines since 2002, with some places having as much as a 95% decrease (including that locality near the Upper Warren in Manjimup, where the original sevenfold increase occurred). The woylies' population across all of Australia has declined, especially the P&W; managed lands of the south-west forests. Wild populations that were replenished through translocations in South Australia have also mysteriously declined. In fact, quite a few other species of the southwest forests have also declined and with no definite answers, despite many studies being undertaken, including through Parks and Wildlife’s new initiative, "Saving our Species".
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In 2005, a Massey University study that was contracted and paid for by a Veterans organization in New Zealand examined some 50 sailors who observed the tests from ships. It was found in one battery of tests, that they were indistinguishable from the control group, which is interpreted as indicating that "DNA repair mechanisms in the veterans are not deficient". However, in another test done by the same Massey University team, for chromosome translocations within peripheral blood lymphocytes, the author of the study, R. E. Rowland, suggested that a statistically higher rate of this, non-germline abnormality, was found. Various veterans' organisations then filed a class action lawsuit against the UK Ministry of Defence following the publication of the study, with many media outlets reporting on it at the time.
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Cancer genome sequencing is the whole genome sequencing of a single, homogeneous or heterogeneous group of cancer cells. It is a biochemical laboratory method for the characterization and identification of the DNA or RNA sequences of cancer cell(s). Unlike whole genome (WG) sequencing which is typically from blood cells, such as J. Craig Venter's and James D. Watson’s WG sequencing projects, saliva, epithelial cells or bone - cancer genome sequencing involves direct sequencing of primary tumor tissue, adjacent or distal normal tissue, the tumor micro environment such as fibroblast/stromal cells, or metastatic tumor sites. Similar to whole genome sequencing, the information generated from this technique include: identification of nucleotide bases (DNA or RNA), copy number and sequence variants, mutation status, and structural changes such as chromosomal translocations and fusion genes.
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The lesions in primary pulmonary lymphoma are in the mucosa of the broncheal airways and are diagnosed by needle biopsy, bronchial biopsy, trans-bronchial biopsy, and/or bronchoalveolar lavage. Findings consistent with the diagnosis include biopsy specimens revealing mucosa infiltrates of small B-cells bearing the typical B cell markers found in EMZL; occasional specimens consist of B lymphocytes with a plasma cell appearance. Bronchoalveolar lavage fluid may contain >10% of cells which bear these markers. B-cells in the pulmonary lesions have the t(11;18)(q21;q21) translocation and therefore express the API2-MALT1 chimeric protein in ~40% of cases. Other, less frequently occurring genomic abnormalities in these cells include t(1;14)(p22;q32), t(14;18)(q32;q21), and t(3;14)(p14.1;q32) translocations and trisomy of chromosomes 3 and/or 18.
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Off-target genome editing refers to nonspecific and unintended genetic modifications that can arise through the use of engineered nuclease technologies such as: clustered, regularly interspaced, short palindromic repeats (CRISPR)-Cas9, transcription activator-like effector nucleases (TALEN), meganucleases, and zinc finger nucleases (ZFN). These tools use different mechanisms to bind a predetermined sequence of DNA (“target”), which they cleave (or "cut"), creating a double-stranded chromosomal break (DSB) that summons the cell's DNA repair mechanisms (non-homologous end joining (NHEJ) and homologous recombination (HR)) and leads to site-specific modifications. If these complexes do not bind at the target, often a result of homologous sequences and/or mismatch tolerance, they will cleave off-target DSB and cause non-specific genetic modifications. Specifically, off-target effects consist of unintended point mutations, deletions, insertions inversions, and translocations.
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FGFR1 is the gene for the fibroblast growth factor receptor 1, a cell surface receptor that similar to PDGFRA and PDGFRB, is tyrosine kinase receptor. In some rare hematological cancers, the fusion of the FGFR1 gene with certain other genes due to Chromosomal translocations or Interstitial deletions create fusion genes that encode chimeric FGFR1 Fusion proteins that have continuously active FGFR1-derived tyrosine kinase activity and thereby continuously stimulate cell growth and proliferation. These mutations occur in the early stages of myeloid and/or lymphoid cell lines and are the cause of or contribute to the development and progression of certain types of leukemia, Myelodysplastic syndromes, and lymphomas which are commonly associated with greatly increased numbers of circulating blood eosinophils (i.e. hypereosinophilia) and/or increased numbers of bone marrow eosinophils.
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Chromosomal translocations involving the immunoglobulin heavy locus (IGH@) is a classic cytogenetic abnormality for many B-cell lymphomas, including follicular lymphoma, mantle cell lymphoma and Burkitt's lymphoma. In these cases, the immunoglobulin heavy locus forms a fusion protein with another protein that has pro-proliferative or anti- apoptotic abilities. The enhancer element of the immunoglobulin heavy locus, which normally functions to make B cells produce massive production of antibodies, now induces massive transcription of the fusion protein, resulting in excessive pro-proliferative or anti-apoptotic effects on the B cells containing the fusion protein. In Burkitt's lymphoma and mantle cell lymphoma, the other protein in the fusion is c-myc (on chromosome 8) and cyclin D1 (on chromosome 11), respectively, which gives the fusion protein pro-proliferative ability.
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The 5-10% of DLBCL, NOS cases in which the neoplastic cells express CD5 have a very poor prognosis that is not improved by even aggressive treatment regimens. Cases in which fluorescence in situ hybridization analysis show that the neoplastic cells' in this disease bear translocations in both the MYC and BCL2 genes or MYC and BCL6 genes (termed double hit lymphomas) or in all three genes (termed triple hit lymphomas) are associated with advanced disease that spreads to the central nervous system. These lymphomas, termed high-grade B-cell lymphoma with MYC, BL2, and/or BL6 rearrangements or, more simply, DH/THL, are regarded as borderline DLBCL,NOS. They represent 6-14% of all DLBCL, NOS and have had long-term survival rates of only 20-25%.
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On the mainland spotted galaxias is generally recognised as a freshwater fish species with a marine larval phase (larvae are swept out to sea and return to freshwater habitats as early stage juveniles), and thus only found in coastal rivers. Spotted galaxias are generally found in coastal rivers in Tasmania as well, however natural landlocked populations do occur in some freshwater lakes in Tasmania. Spotted galaxias were assumed not to be native to the Murray-Darling river system, however records of native fish fauna compiled by William Blandowski in the 1850s suggest the species did historically occur there. This may cause a re-evaluation of the spotted galaxias specimens occasionally recovered in the Murray-Darling river system, which until now were assumed to be accidental translocations via the Snowy Mountains Hydro-Electric Scheme.
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Finally, genetic abnormalities such as the deletion of the q arm in chromosome 13 found in low count MBL are more commonly associated with a favorable prognosis in CLL/SLL while those found in high count MBL, e.g. deletions in the q arm of chromosome 11 or p arm of chromosome 17 are commonly associated with unfavorable prognoses in CLL/SLL. Individuals with MBL-MZ have monoclonal B cell cells that bear complex and distinctive genomic abnormalities, such as deletions and translocations involving chromosome 7, presence of an isochromosome 17, and, rarely, mutations in the NOTCH2 and KLF2 genes. Some of these genomic abnormalities are similar to those found in splenic marginal zone lymphomas and some of the MBL-MZ patients that bore these abnormalities developed this lymphoma.
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Activator (Ac)/ Dissociation (Ds) transposable elements were discovered by Barbara McClintock when she was studying the maize genomic composition of the short arm of chromosome 9. She noticed that when chromosome 9 had been exposed to drastic structural modifications, the progeny had changes such as multiple copies of the short arm or lacking one or more of its parts, as well as other changes. She believed that these changes were due to transposition of “mutable loci” into the genome and that these spontaneous translocations were not random due to where the breaks occurred and where they fused. Ac/Ds elements have been observed to insert into gene rich regions of the maize genome, they alter the regulation of gene expression and may create unstable insertion alleles, stable derivatives, or excision alleles due to insertion of a transposable element into a gene.
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This property is exploited in many cloning vectors where the presence of the lacZα gene in a plasmid can complement in trans another mutant gene encoding the LacZΩ in specific laboratory strains of E. coli. However, when DNA fragments are inserted in the vector, the production of LacZα is disrupted, the cells therefore show no β-galactosidase activity. The presence or absence of an active β-galactosidase may be detected by X-gal, which produces a characteristic blue dye when cleaved by β-galactosidase, thereby providing an easy means of distinguishing the presence or absence of cloned product in a plasmid. In studies of leukaemia chromosomal translocations, Dobson and colleagues used a fusion protein of LacZ in mice, exploiting β-galactosidase's tendency to oligomerise to suggest a potential role for oligomericity in MLL fusion protein function.
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When used for women of advanced maternal age and for patients with repetitive IVF failure, PGP is mainly carried out as a screening for detection of chromosomal abnormalities such as aneuploidy, reciprocal and Robertsonian translocations, and few cases for other abnormalities such as chromosomal inversions or deletions. The principle behind it is that, since it is known that numerical chromosomal abnormalities explain most of the cases of pregnancy loss, and a large proportion of the human embryos are aneuploid, the selective replacement of euploid embryos should increase the chances of a successful IVF treatment. Comprehensive chromosome analysis methods include array-comparative genomic hybridization (aCGH), quantitative PCR and SNP arrays. Combined with single blastomere biopsy on day-3 embryos, aCGH is very robust with 2.9% of tested embryos with no results, and associated with low error rates (1.9%).
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This protein is a Long-chain-fatty-acid—CoA ligase that plays a major role in fatty acid metabolism (particularly in the brain) by charging fatty acids with Coenzyme A to form acyl-CoA. This function can not only alter fatty acid metabolism but also modulate the function of protein kinase Cs and nuclear thyroid hormone receptor. The gene is located on human chromosome 5 at position q31.1. Chromosome translocations between ETV6 and ACSL6 at different chromosome break points create various t(5:12)(q31;p13) ETV6-ACSL6 fusion genes encoding ETV6-ACSL6 fusion proteins. The functionality of ETV6-ACSL6 fusion proteins and the mechanism by which they promote clonal hypereosinophil may, based on indirect evidence in 5 case studies, relate to a loss or gain in function of the ETV6 portion of the fusion protein.
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RNA-binding protein EWS is a protein that in humans is encoded by the EWSR1 gene on human chromosome 22, specifically 22q12.2. This region of chromosome 22 encodes the N-terminal transactivation domain of the EWS protein and that region may become joined to one of several other chromosomes which encode various transcription factors, see The expression of a chimeric protein with the EWS transactivation domain fused to the DNA binding region of a transcription factor generates a powerful oncogenic protein causing Ewing sarcoma and other members of the Ewing family of tumors. These translocations can occur due to chromoplexy, a burst of complex chromosomal rearrangements seen in cancer cells. The normal EWS gene encodes a RNA binding protein closely related to FUS (gene) and TAF15, all of which have been associated to amyotrophic lateral sclerosis.
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Little is known about the population of Gila chub in Mexico, but the populations that reside in Arizona are expected to decrease because of these ongoing threats: aquifer pumping, stream diversion, habitat alterations by non-native crayfishes, and mainly, predation/competition with nonnative fishes. Currently, the Gila chub are sharing the waters with green sunfish (Lepomis cyanellus) in many areas; however, introducing any other kind of exotic fish to the Gila chub must be managed and observed (it is crucial to their survival). In fact, the Gila chub has been extirpated on many occasions because of exotic fish such as the largemouth bass (Micropterus salmoides). According to the Arizona Fish and Game Department, the Bureau of Land Management Phoenix District is proposing translocations of the Gila chub from Silver Creek to an adjacent stream in the Agua Fria headwaters.
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However, of those fish species discovered such as the Cusk-Eel (Microbrotula sp.) and Maugean Skate (Zearaja maugeana) which are endemic to the park, there is one species of fish, known as the freshwater fish Pedder galaxias (Galaxias pedderensis) that has been listed both at a Tasmanian and Commonwealth level as endangered in 1995 and extinct in the wild in 2009 respectively. Once endemic to Lake Pedder within the national park, the Pedder galaxias is unfortunately no longer found within the park with the population only found at two translocations which were part of conservation management program undertaken in the 1980s to protect the species. Alongside the now extinct Thylacine in Tasmania, this case is indicative of ensuring that conservation measures are taken to protect species that are endemic to a particular area and have high conservation value, such as the Southwest National Park.
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The success of these translocations has meant that the takahē's island metapopulation appears to have reached its carrying capacity, as revealed by the increasing ratio of non-breeding to breeding adults and declines in produced offspring. This may lead to reduced population growth rates and increased rates of inbreeding over time, thereby posing problems regarding the maintenance of genetic diversity and thus takahē survival in the long term. Recently, human intervention has been required to maintain the breeding success of the takahē, which is relatively low in the wild compared to other, less threatened species, so methods such as the removal of infertile eggs from nests and the captive rearing of chicks have been introduced to manage the takahē population. The Fiordland takahē population has a successful degree of reproductive output due to these management methods: the number of chicks per pairing with infertile egg removal and captive rearing is 0.66, compared to 0.43 for regions without any breeding management.
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A millerbird wearing coloured leg bands shortly after translocation from Nihoa to Laysan 24 Nihoa millerbirds were translocated by ship about from Nihoa to Laysan in September 2011 after years of planning with the aim of establishing a second population of the species on Laysan. Mark MacDonald, a graduate student from the University of New Brunswick in Canada, lead a team that was working with the Service to collect information needed for translocations. From July through September 2007, MacDonald and his team captured and banded Nihoa millerbirds, collected body measurements, assessed body fat and breeding condition, identified individual territories and analyzed vocalizations, conducted feeding experiments, collected fecal samples, observed behavior to determine diet composition, noted the presence and abundance of non-native grasshoppers, and sampled the insect community on both Nihoa and Laysan to assess the millerbird's potential prey base. MacDonald's study estimated the Nihoa millerbird's population at approximately 800 individuals – a relatively high number in 40 years of low and fluctuating numbers.
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In 2007, the European Commission gave authorization for the marketing of trabectedin, under the trade name Yondelis, "for the treatment of patients with advanced soft tissue sarcoma, after failure of anthracyclines and ifosfamide, or who are unsuited to receive these agents". The European Medicine Agency's evaluating committee, the Committee for Medicinal Products for Human Use (CHMP), observed that trabectedin had not been evaluated in an adequately designed and analyzed randomized controlled trial against current best care, and that the clinical efficacy data were mainly based on patients with liposarcoma and leiomyosarcoma. However, the pivotal study did show a significant difference between two different trabectedin treatment regimens, and due to the rarity of the disease, the CHMP considered that marketing authorization could be granted under exceptional circumstances. As part of the approval PharmaMar agreed to conduct a further trial to identify whether any specific chromosomal translocations could be used to predict responsiveness to trabectedin.
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Conditional (CD21-cre-mediated) deletion of the XRCC4 NHEJ gene in p53-deficient peripheral mouse B cells resulted in surface Ig-negative B-cell lymphomas, and these lymphomas often had a "reciprocal chromosomal translocation" fusing IgH to Myc (and also had "large chromosomal deletions or translocations" involving IgK or IgL, with IgL "fusing" to oncogenes or to IgH). XRCC4- and p53-deficient pro-B lymphomas "routinely activate c-myc by gene amplification"; and furthermore, XRCC4- and p53-deficient peripheral B-cell lymphomas "routinely ectopically activate" a single copy of c-myc. Indeed, in view of the observation by some that “DNA repair enzymes are correctives for DNA damage induced by carcinogens and anticancer drugs”, it should not be surprising that “SNPs in DNA repair genes may play an important part” in cancer susceptibility. In addition to the cancers identified above, XRCC4 polymorphisms have been identified as having a potential link to various additional cancers such as oral cancer, lung cancer, gastric cancer, and gliomas.
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The ETV6 gene codes for a transcription factor protein that in mice appears to be required for hematopoiesis and maintenance of the developing vascular network. The gene is located on human chromosome 12 at the p13 position, consists of 14 exons, and is well-known to be involved in a large number of chromosomal rearrangements associated with leukemia and congenital fibrosarcoma. Translocations between it and the PDGFRB gene, notated as t(5;12)(q33;p13), yield a PDGFRB-ETV6 fused gene that encodes a fusion protein, PDGFRB-ETV6. This chimeric protein, unlike the PDGFRB protein: a) has continuously active PDGFRB-mediated tyrosine kinase due to its forced dimerization by the PNT protein binding domain of the ETV6 protein; b) is highly stable due to its resistance to ubiquitin-Proteasome degradation; and c) therefore over- stimulates cell signaling pathways such as STAT5, NF-κB, and Extracellular signal-regulated kinases which promote cell growth and proliferation.
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The karyotype of Przewalski's horse differs from that of the domestic horse, having 33 chromosome pairs versus 32, apparently due to a fission of a large chromosome ancestral to domestic horse chromosome 5 to produce Przewalski's horse chromosomes 23 and 24, though conversely, a Robertsonian translocation that fused two chromosomes ancestral to those seen in Przewalski's horse to produce the single large domestic horse chromosome has also been proposed.Jinlong Huang, et al. (2014), "Analysis of horse genomes provides insight into the diversification and adaptive evolution of karyotype", Scientific Reports 4: 4958 Many smaller inversions, insertions and other rearrangements were observed between the chromosomes of domestic and Przewalski's horses, while there was much lower heterozygosity in Przewalski's horses, with extensive segments devoid of genetic diversity, a consequence of the recent severe bottleneck of the captive Przewalski's horse population. In comparison, the chromosomal differences between domestic horses and zebras include numerous large-scale translocations, fusions, inversions, and centromere repositioning.
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Given the strong cultural cringe towards introduced trout in the wider community and the management bias towards introduced trout amongst fishery agencies these studies may be some way off. Two small populations of trout cod that have shown indications of breeding have been created by hatchery stockings in the lowland reaches of Murrumbidgee River at Gundagai and Narranderra, although it is far from clear whether these populations will be self-sustaining in the long term. Many other stockings of trout cod have failed, which is not surprisingly considering the small number of trout cod fingerlings stocked, and the fact that trout cod were frequently stocked into upland river habitats where introduced trout species were heavily entrenched, and in at least one case, were carried in conjunction with far larger stockings of introduced trout. A semi-natural population exists in a stretch of the very small upland Seven Creeks, which was established by translocations of trout cod (and Macquarie perch) above a set of falls in the 1920s.
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