He's Baku's total opposite, personality-wise: almost recessively shy and possibly a bit dim.
|
|
There are two major scenarios in which editing the DNA of an embryo might be considered ethical: One in which both parents carry a gene for a genetic disorder recessively, and one in which one parent carries a dominant gene for a disease, like hypertrophic cardiomyopathy or Huntington's disease.
|
|
Mutations in the EPB42 gene are associated with recessive spherocytic elliptocytosis and recessively transmitted hereditary hemolytic anemia.
|
|
Lysosomal storage disorders are caused by lysosomal dysfunction usually as a consequence of deficiency of a single enzyme required for the metabolism of lipids, glycoproteins (sugar-containing proteins), or so-called mucopolysaccharides. Individually, LSDs occur with incidences of less than 1:100,000; however, as a group, the incidence is about 1:5,000 – 1:10,000. Most of these disorders are autosomal recessively inherited such as Niemann–Pick disease, type C, but a few are X-linked recessively inherited, such as Fabry disease and Hunter syndrome (MPS II). The lysosome is commonly referred to as the cell's recycling center because it processes unwanted material into substances that the cell can use.
|
|
DAT-Scans, TC(D)-Sonography, PET-Scans and in some cases Magnetic resonance imaging (MRI) (type of scans depending on the symptoms)Brüggemann N. et al.: Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype. Arch Neurol. 2010 Nov;67(11):1357-63.
|
|
In: Cichlid Fishes: behaviour, ecology and evolution Ed. Keenleyside MHA. Chapman and Hall, London. p. 109-115. In convict cichlids, for example, a leucistic coloration is recessively inherited, while in Oreochromis niloticus niloticus, red coloration is caused by a dominant inherited mutation. This selective breeding may have unintended consequences.
|
|
Cat coat length is controlled by the fibroblast growth factor 5 (FGF5) gene. The dominant allele codes for the short coat seen in most cats. Long coats are coded for by at least four different recessively inherited mutations, the alleles of which have been identified (Kehler et al., 2007).
|
|
Lethal white syndrome has been described by researchers as both dominantly and recessively inherited.Metallinos et al 1998. "Based on the strength of this association and its complete compatibility with simple mendelian recessive inheritance, we inferred that Lethal White Foal Syndrome was tightly linked to the mutation."Thiruvenkadan et al 2008.
|
|
Selective breeding has resulted in a leucistic strain, which lacks the dark barring of the wild type. These are known commonly as white convicts, pink convicts, gold convicts, and A. nigrofasciata "Kongo". The leucistic colouration is caused by a mutation in an autosomal gene and is recessively inherited.Itzkovich, J., et al. (1981).
|
|
Mutations in the ETFDH can cause glutaric aciduria 2C (GA2C), an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It is characterized by multiple acyl-CoA dehydrogenase deficiencies resulting in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. A c.250G>A (p.
|
|
It is mainly known to occur in dogs, particularly poodles and akitas, where it is thought to be generally autosomal recessively inherited. It has also been described in cats, and one report describes this condition in a rabbit. In these animals, it causes hair loss, though the nature and distribution of the hair loss differs greatly.
|
|
An albino form of the species has been developed for the aquarium trade. Unlike normal albinism, the trait is not recessively inherited in P. pulcher. The trait is incompletely dominant. Like many albino animals red and yellow pigments are retained, however, albino P. pulcher also show patches of melanin in the dorsal and caudal fin around the ocelli.
|
|
Karl Stargardt (1875 – 1927) was a German ophthalmologist born in Berlin. He studied medicine at the University of Kiel, qualifying in 1899. He later became head of the Bonn University’s ophthalmology clinic, followed by a post as chair of ophthalmology at the University of Marburg. In 1909 he described 7 patients with a recessively inherited macular dystrophy, now known as Stargardt’s disease.
|
|
McLeod syndrome (pronounced ) is an X-linked recessive genetic disorder that may affect the blood, brain, peripheral nerves, muscle, and heart. It is caused by a variety of recessively inherited mutations in the XK gene on the X chromosome. The gene is responsible for producing the Kx protein, a secondary supportive protein for the Kell antigen on the red blood cell surface.
|
|
A rearrangement in TNNT1 gene (c.574_577 delins TAGTGCTGT) leading to aberrant splicing that causes C-terminal truncation of the protein (L203 truncation) was reported in 9 Palestinian patients from 7 unrelated families with recessively inherited nemaline Myopathy. Illustrated in Fig. 3, the S108X mutation truncates ssTnT protein to cause a loss of functional structures equivalent to that of E180X.
|
|
Mutations in both alleles of either ABCG5 or ABCG8 in the human results in sitosterolemia. Sitosterolemia (also known as phytosterolemia) is a rare autosomal recessively inherited lipid metabolic disorder characterized by the presence of tendon xanthomas, premature coronary artery disease and atherosclerotic disease, hemolytic episodes, arthralgias and arthritis. The hallmark of sitosterolemia is diagnostically elevated levels of plant sterols in the plasma.
|
|
These mutations tend to affect the ATP-binding residues of BCS1L. Growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death (GRACILE) is a recessively inherited lethal disease that results in mutli-system organ failure. GRACILE is characterized by fetal growth retardation, lactic acidosis, aminoaciduria, cholestasis, and abnormalities in iron metabolism. Pathogenic mutations have included S78G, R144Q, and V327A.
|
|
Many types of ichthyoses exist, and an exact diagnosis may be difficult. Types of ichthyoses are classified by their appearance, if they are syndromic or not, and by mode of inheritance. For example, non-syndromic ichthyoses that are inherited recessively come under the umbrella term autosomal recessive congenital ichthyosis (ARCI). Ichthyosis caused by mutations in the same gene can vary considerably in severity and symptoms.
|
|
Hereditary motor and sensory neuropathy are relatively common and are often inherited with other neuromuscular conditions, and these comorbidities cause an accelerated progression of the disease. Most forms HMSN affects males earlier and more severely than females, but others show no predilection to either sex. HMSN affects all ethnic groups. With the most common forms having no racial predilection, but other recessively inherited forms tend to impact specific ethnic groups.
|
|
The genetic locus for PPS was localized to chromosome 1 in 1999. The disorder is inherited in an autosomal dominant manner and is due to mutation of the IRF6 gene. Most reported cases are sporadic; advanced parental age is found in a number of these cases, suggesting new mutations. The term PPS has also been used for two rare autosomal recessively inherited conditions: Lethal PPS and PPS with Ectodermal Dysplasia.
|
|
The mutation responsible for CVM is recessively inherited, and heterozygous carriers of the mutation are asymptomatic. CVM analysis found the bovine SLC35A3 to be the first nucleotide-sugar transportation regulating gene also responsible in the formation of vertebrae and ribs. CVM affects foetal development, being a cause of frequent abortions and stillbirths. Affected calves express low birth weight and a variety of malformations in the vertebrae and heart.
|
|
Pectus Excavatum, the most common deformity of the chest wall, is believed to have a genetic component. The condition is believed to be passed either dominantly or recessively by a gene of unknown identity. A study performed in 2012 by Wu et al.Wu, S., Sun, X., Zhu, W., Huang, Y., Mou, L., Liu, M., ... & Wang, Z. (2012). Evidence for GAL3ST4 mutation as the potential cause of pectus excavatum. Cell research, 22(12), 1712-1715.
|
|
Spondylothoracic dysplasia, or STD, has been repeatedly described as an autosomal recessively inherited condition that results in a characteristic fan-like configuration of the ribs with minimal intrinsic rib anomalies. Infants born with this condition typically died early in life due to recurrent respiratory infections and pneumonia due to their restricted thorax. Recently, a report has documented that actual mortality associated with STD is only about 50%, with many survivors leading healthy, independent lives.
|
|
HFI is recessively inherited autosomal disorder. Approximately 30 mutations that cause HFI have been identified, and these combined mutations result in a HFI frequency of 1 in every 20,000 births. Mutant alleles are a result of a number different types of mutations including base pair substitutions and small deletions. The most common mutation is A149P, which is a guanine to cytosine transversion in exon 5, resulting in the replacement of alanine at position 149 with proline.
|
|
This morph is recessively inherited. This morph occurs in the amago subspecies (Oncorhynchus masou ishikawae) in Western Japan, and apparently also in the nominate subspecies yamame (Oncorhynchus masou masou), if these are not identical. The morph was scientifically described as a distinct species Oncorhynchus iwame in 1961 by Kimura & Nakamura. In the 2000s, the iwame morph was shown to occur as a polymorphism in random mating populations of O. masou, and is no more thought to have taxonomical value.
|
|
Some types of albinism affect only the skin and hair, while other types affect the skin, hair and eyes, and in rare cases only the eyes. All of them are caused by different genetic mutations. Albinism is a recessively inherited trait in humans where both pigmented parents may be carriers of the gene and pass it down to their children. Each child has a 25% chance of being albino and a 75% chance of having normally pigmented skin.Cummings (2011).
|
|
In 1972 a rare novel recessively inherited lethal skeletal dysplasia characterized by extreme micromelia (short limbs) was described.de la Chapelle A, Maroteaux P, Havu N, Granroth G: Une rare dysplasie osseuse léthale de transmission recessive autosomique (A rare skeletal dysplasia with autosomal recessive inheritance). Arch Franc Pediat 29:759-770, 1972 The underlying mutation, homozygosity for pT512K in the SLC26A2 gene was later found to be responsible for the syndrome. The syndrome is called "de la Chapelle dysplasia" (DLCD; OMIM #256050).
|
|
De la Chapelle decided to begin to clarify the genetic basis of some 30 disorders (mostly recessively inherited) that were known to be greatly over-represented in the Finnish population due to its founder nature, i.e. the present population derives from a small number of settlers without significant recent influx. The diseases are said to comprise the “Finnish Disease Heritage”. The de la Chapelle laboratory soon was transformed into a molecular genetics one working mainly with restriction fragment length polymorphisms as markers.
|
|
Mutations in this gene result in autosomal-recessive spastic paraplegia. The protein is also the target for neurodegeneration induced by organophosphorus compounds and chemical warfare agents. Recessively-inherited mutations in NTE that substantially reduce its catalytic activity cause a rare form of hereditary spastic paraplegia (SPG39), in which distal parts of long spinal axons degenerate leading to limb weakness and paralysis. Organophosphate-induced delayed neuropathy a paralysing syndrome with distal degeneration of long axons results from poisoning with neuropathic organophosphorus compounds that irreversibly inhibit NTE.
|
|
However, mutations may also occur within a person's life-time and be passed down from parent to offspring. In some cases, mutations may result in genetic diseases, such as Cystic Fibrosis, which is the result of a mutation to the CFTR gene that is recessively inherited from both parents. In other cases, mutations may be harmless or phenotypically unnoticeable. We are able to treat biological traits as manifestations of either a single loci or multiple loci, labeling said biological traits as either monogenic or polygenic, respectively.
|
|
During this time in her career, Andersen wrote in the Journal of Chronic Diseases that her research findings corresponded to cystic fibrosis is a recessively inherited disease that was once thought to be fatal in early infancy, however, now many patients were surviving until early adulthood. Andersen published her final paper in 1959 on the reoccurrence of cystic fibrosis in young adults. It was not until the early 1980s, where researchers could determine the actual cause of cystic fibrosis, being - a single mutation causing incomplete synthesis of a transmembrane protein, resulting in thick, clogging secretions mainly in the pancreas and respiratory tract.
|
|
NPC1 was identified as the gene that when mutated, results in Niemann-Pick disease, type C. Niemann-Pick disease, type C is a rare neurovisceral lipid storage disorder resulting from autosomal recessively inherited loss-of- function mutations in either NPC1 or NPC2. This disrupts intracellular lipid transport, leading to the accumulation of lipid products in the late endosomes and lysosomes. Approximately 95% of NPC patients are found to have mutations in the NPC1 gene. NPC1 encodes a putative integral membrane protein containing sequence motifs consistent with a role in intracellular transport of cholesterol to post-lysosomal destinations.
|
|
Carnitine palmitoyltransferase II deficiency is an autosomal recessively inherited genetic metabolic disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria for utilization as an energy source. The disorder presents in one of three clinical forms: lethal neonatal, severe infantile hepatocardiomuscular and myopathic. First characterized in 1973 by DiMauro and DiMauro the adult myopathic form of this disease is triggered by physically strenuous activities and/or extended periods without food and leads to immense muscle fatigue and pain. It is the most common inherited disorder of lipid metabolism affecting the skeletal muscle of adults, primarily affecting males.
|
|
Upshaw–Schulman syndrome (USS) is the recessively inherited form of thrombotic thrombocytopenic purpura (TTP), a rare and complex blood coagulation disease. USS is caused by the absence of the ADAMTS13 protease resulting in the persistence of ultra large von Willebrand factor multimers (ULVWF), causing episodes of acute thrombotic microangiopathy with disseminated multiple small vessel obstructions. These obstructions deprive downstream tissues from blood and oxygen, which can result in tissue damage and death. The presentation of an acute USS episode is variable but usually associated with thrombocytopenia, microangiopathic hemolytic anemia (MAHA) with schistocytes on the peripheral blood smear, fever and signs of ischemic organ damage in the brain, kidney and heart.
|
|
Aagenaes syndrome is a syndrome characterised by congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant cell hepatitis with fibrosis of the portal tracts. The genetic cause is unknown, but it is autosomal recessively inherited and the gene is located to chromosome 15q1,2. A common feature of the condition is a generalised lymphatic anomaly, which may be indicative of the defect being lymphangiogenetic in origin1. The condition is particularly frequent in southern Norway, where more than half the cases are reported from, but is found in patients in other parts of Europe and the United States.
|
|
Since its first description, over 30 mutations in the SLC26A2 gene have been described in the four recessively inherited chondrodysplasias listed above. Achondrogenesis 1B (ACG-1B) is the most severe form of these chondrodysplasias, resulting in skeletal underdevelopment and death preceding or shortly after birth. Atelosteogenesis type II (AO-II) can be lethal in the neonatal period, whereas diastrophic dysplasia (DTD) and autosomal recessive multiple epiphyseal dysplasia (EDM4/rMED) are considered to be the least severe forms. When ten previously described SLC26A2 mutation were expressed in mammalian cells, a strong correlation was found between the amount of sulfate transport activity of the mutated protein and the severity of the phenotype in patients where these mutations have been identified.
|
|
Mutations in the FGD1 gene cause phenotypes associated with the X-linked recessively transmitted faciogential dysplasia (FGDY) also known as Aarskog- Scott syndrome, a human developmental disorder that can occur with neurological problems. The disease phenotypes are due to improper bone formation and is more often seen in males though the severity depends on age. Mutations in the FGD1 gene are randomly distributed in all the domains of the protein product, modifying the intracellular localization and/or the GEF catalytic activity of FGD1. Up to 2010 twenty distinct mutations have been reported, including three missense mutations (R402Q; S558W; K748E), four truncating mutations (Y530X; R656X; 806delC; 1620delC), one in-frame deletion (2020_2022delGAG) and the first reported splice site mutation (1935þ3A→C).
|
|
About 99% of HD diagnoses based on the typical symptoms and a family history of the disease are confirmed by genetic testing to have the expanded trinucleotide repeat that causes HD. Most of the remaining are called HD-like (HDL) syndromes. The cause of most HDL diseases is unknown, but those with known causes are due to mutations in the prion protein gene (HDL1), the junctophilin 3 gene (HDL2), a recessively inherited unknown gene (HDL3—only found in two families and poorly understood), and the gene encoding the TATA box-binding protein (SCA17, sometimes called HDL4). Other autosomal dominant diseases that can be misdiagnosed as HD are dentatorubral-pallidoluysian atrophy and neuroferritinopathy. There are also autosomal recessive disorders that resemble sporadic cases of HD. These include chorea acanthocytosis and pantothenate kinase-associated neurodegeneration.
|
|
The molecular mechanisms regulating the absorption of dietary sterols in the body are poorly understood, and as sitosterolemia is a rare autosomal recessively inherited lipid metabolic disorder characterized by hyperabsorption and decreased biliary excretion of dietary sterols, studies have focused on the molecular basis of sitosterolemia to shed light on important principles concerning intestinal sterol absorption as well as cholesterol secretion into bile. In 1998, sitosterolemia (STSL) locus has been mapped to the short arm of human chromosome 2 (2p21) after studying 10 well-characterized families with this disorder. Subsequently, the STSL locus has been further localized to a less than 2 centimorgans (cM) region. In 2001, The STSL locus was found to be comprises two genes, ABCG5 and ABCG8, encoding 2 members of the ABC- transporter family, named sterolin-1 and sterolin-2, respectively, Sterolin-2, discovered after sterolin-1, is located <400 base pair (bp) upstream of sterolin-1 in the opposite orientation.
|
|