"Government isn't handed down in the genes," Justice O'Connor said.
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He's not surprised she killed it ... like he says, it's in the genes.
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The secret of suppressing cancer may therefore be hidden in the genes of giants.
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"I think it runs in the genes." xXx: Return of Xander Cage hits theaters Friday.
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The mutation appears in the genes serving as blueprints for antibodies made by white blood cells.
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Back in the 1980s, researchers began to notice a strange pattern in the genes of many microbes.
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They sought out structural changes in the genes, like deletions or transposition of DNA to another location.
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Searching for mutations in the genes of cancer cells may be one way to avoid false positives.
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Denisovan DNA can be found in the genes of modern humans across Asia and some Pacific islands.
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In nearly every other animal, RNA—the middleman in that process—faithfully transmits the message in the genes.
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They then searched for these segments in the genes encoding viral-interacting proteins and non-viral-interacting proteins.
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Drs Slon and Pääbo looked for just such markers in the genes of their Denisovan teenager and found none.
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While some variants in the genes were linked with increased rates of depression, others were linked to decreased rates.
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Back in 2012 she modeled alongside her mom for London Fog, proving it's all in the genes (pun intended).
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To do that, the researchers needed a new algorithm that would weigh the significance of the variations in the genes.
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These 30 mutations were located in the genes nrdE, fadJ and pcp—what the team referred to as virulence genes.
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"Cricket is in the genes of the people from the subcontinent," said Yawar Abbas, the embassy's charges d'affaires in Athens.
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One gene, ACTN3, almost certainly influences athletic performance, and appears frequently in the genes of Olympic-level power athletes like sprinters.
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The runners' cells also had markers of greater activity in the genes that respond to DNA stress than the nonrunners' cells.
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The answer probably lies somewhere downstream of the DAF-16 protein and FoxO, in the genes they turn on and off.
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Those patents, which the company vigorously defended during Mr. Meldrum's tenure, enabled Myriad to monopolize the testing for mutations in the genes.
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Researchers can look at what genes switch on when the animals get sick, and by comparison what's going on in the genes of healthy animals.
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After sequencing the genes of 11 people with the condition, Betz and her colleagues observed changes in the genes identified as PADI3, TGM3, and TCHH.
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Billing itself as the world's largest training and start-up launch program, The Founder Institute tests for whether success can actually be found in the genes.
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"To seek harmony and coexistence has been in the genes of the Chinese nation throughout history, and it represents the very essence of eastern civilization," he said.
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He and his colleagues noted parallel changes in the genes for three digestive enzymes whose job is to liberate two particular amino acids, lysine and arginine, from proteins.
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So, considering how a love of makeup is in the genes, we have a feeling we'll be seeing a lot more makeup tutorials from Samia in the future.
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That delay might be discovered in the DNA, more likely in the sections that control when and how strongly genes become active, rather than in the genes themselves.
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Murray takes the heritability of intelligence as evidence that it is an essential inborn quality, passed in the genes from parents to children with little modification by environmental factors.
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It's all in the genes The researchers were looking for what might explain the skeleton's small stature, as well as the abnormal rib count and other bone and skull oddities.
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Should serious abnormalities be detected in the genes of these twins, it could stop them from having children of their own for fear of passing deleterious traits down onto the next generation.
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"The flavor is causing some changes in the genes, which is a really key point in human lung epithelial cells," said Rahman, who studies the effects of cigarette smoke on lung inflammation.
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The researchers believe the alterations in the genes' DNA sequences are linked to the rats' ability to navigate New York's subterranean passages, which are bathed in an ever-shifting barrage of smells.
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Because, as Amy Harmon explained for the New York Times, they were showing off their lactose tolerance, a trait that they believed was more common in the genes of white people than in others.
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They concluded that the asymmetrical nature of the spinal cord could be down to something called epigenetics, or how organisms are affected by changes in their gene expression rather than in the genes themselves.
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The researchers thought that perhaps mutations in the genes affected the levels of NAD and NADH, chemicals in every living cell that assist in energy storage and building DNA, and that can be made from niacin.
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The extreme form of this view is "to explain everything by saying 'it is in the genes,' or DNA, and this trend has been reinforced by the increasingly powerful and affordable DNA sequencing technologies," Huang said.
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"It's in the genes of every man to get his rocks off where we can," he croons, suggesting that when smartphones met with geo-technology, an app helping gay men to locate each other was a matter of time.
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Struggle is in the genes of the Communist Party, which came to power in a revolution and has held on despite every prediction otherwise, but are ordinary Chinese as willing to put up with hardships that come not from outside but from the policies of their own leaders?
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One possibility is that these individuals also have other genes that somehow suppress these disease-causing mutations Other people in the study lacked conditions such as familial dysautonomia (which affects nerve cells, and can result in sudden death during childhood), Smith-Lemli-Opitz syndrome (which causes widespread developmental problems throughout the body), and epidermolysis bullosa simplex (a severe skin condition), despite having mutations in the genes for these conditions.
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Mutations in the genes result in speech and language problems.
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It is more severe than the hypermobility type. Variations in the genes COL1A1 and COL1A2 cause it.
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"It's in the genes: Like his father, Lehmann is able to score from long range". Philadelphia Daily News. 21 November 1989.
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While the exact genetics is unclear, there is an association with mutations in the genes TPM3, ACTA1 and SEPN1. It is a rare condition.
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Anjali, a psychology graduate wanted to pursue medicine, but in Std XI she realised that her calling was music."In the genes" . The Indian Express. 20 April 2005.
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Patients with JME may also have generalized tonic-clonic seizures and absence seizures. Linkage of this disorder has been shown to mutations in the genes GABRA1, CACNB4, CLCN2, GABRD2, EFHC1, and EFHC2.
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Epidermolysis bullosa simplex (EBS), is a disorder resulting from mutations in the genes encoding keratin 5 or keratin 14.Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. .
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In Drosophila melanogaster resistance alleles in the genes ref(2)p and CHKov 1 and 2 and have been identified that explain a large amount of the genetic variation in susceptibility to DMelSV infection.
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Therapeutic resistance has been observed in virtually every form of therapy, from the beginning of cancer therapy. In most cases, therapies appear to select for mutations in the genes or pathways targeted by the drug.
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As dogs are a subspecies but their breeds are distinct genetic units, and because only certain breeds share the same type of cancers as humans, the differences in the genes of different breeds may be useful in human medical research.
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In a series of experiments from 1970 to 1971, Hartwell discovered the cell division cycle (CDC) genes in baker's yeast (Saccharomyces cerevisiae). These genes regulate the cell cycle and mutations in the genes are involved in some types of cancer.
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Point mutations and deletion events in the genes coding for MCC can lead to MCC deficiency, an inborn error of metabolism which usually presents with vomiting, metabolic acidosis, very low plasma glucose concentration, and very low levels of carnitine in plasma.
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A common genetic abnormality, especially in Africans, known as glucose-6-phosphate dehydrogenase deficiency, appears to increase the risk. Polymorphisms in the genes for the vitamin D receptor and FcγR seem to offer protection against severe disease in secondary dengue infection.
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Mutations in the genes encoding PEX6, along with PEX1, are the leading causes of peroxisomal biogenesis disorders, such as Zellweger Syndrome spectrum, infantile Refsum disease, and neonatal adrenoleukodystrophy. These genetic diseases are autosomal recessive and occur in 1 of every 50,000 births.
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Without these proteins linked to the cell surface, the complement system can lyse the cell, and high numbers of RBCs are destroyed, leading to hemoglobinuria. For patients with HPMRS, disease-causing mutations have been reported in the genes PIGV, PIGO, PGAP2 and PGAP3.
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Even within a species, variants of hemoglobin exist, although one sequence is usually "most common" in each species. Mutations in the genes for the hemoglobin protein in a species result in hemoglobin variants.A Syllabus of Human Hemoglobin Variants (1996) . Globin.cse.psu.edu. Retrieved 2013-09-05.
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Not much is known about the mutations in the genes OBS1and CCD8 and their function in growth and development so far. However, the implications of 3M syndrome suggest that both these genes encode for proteins that play a role in the CUL7 ubiquination pathway.
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Point mutations in the genes that encode arginine vasopressin and or its carrier protein neurophysin II underlie most cases of the familial, autosomal dominant disorder neurohypophyseal diabetes insipidus. (also called hereditary hypothalamic diabetes insipidus). This condition results from insufficient ADH release into systemic circulation.
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Langs 2010; Freud 2012; White 2012 Besides several recently published articles, Langs was also working on a book- length study on American presidents and the traumas which have driven them. He was also working on a memoir, tentatively entitled The Devil is in the Genes.
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In 2007, he was inducted into the Drexel Athletics Hall of Fame. His father, George, played in the NBA and ABA for seven years.Silary, Ted. "It's In The Genes Like His Father, Dragons' Lehmann Is Able To Score From Long Range", The Philadelphia Inquirer, November 21, 1989.
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Medulloblastomas are also seen in Gorlin syndrome as well as Turcot syndrome. Recurrent mutations in the genes CTNNB1, PTCH1, MLL2, SMARCA4, DDX3X, CTDNEP1, KDM6A, and TBR1 were identified in individuals with medulloblastoma. Additional pathways disrupted in some medulloblastomas include MYC, Notch, BMP, and TGF-β signaling pathways.
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People with NF-1 have a 50% percent chance of passing the disorder on to their kids, but people can have a child born with NF-1 when they themselves do not have it. This is caused in a spontaneous change in the genes during pregnancy.
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It has also been hypothesized that much of the difference between humans and chimpanzees is attributable to the regulation of gene expression rather than differences in the genes themselves. Analyses of conserved non-coding sequences, which often contain functional and thus positively selected regulatory regions, address this possibility.
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75 and those of different fathers will have a genetic relatedness of only .25. The females workers in the colony are related to the queen's sons by a genetic relatedness of .25. Such biasing results in the genes of some female worker bees being represented disproportionately in the virgin queens.
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Specifically, the cochlear duct growth and the formation of hair cells within the organ of Corti. Mutations in the genes expressed in or near the organ of Corti before the differentiation of hair cells will result in a disruption in the differentiation, and potential malfunction of, the organ of Corti.
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The variation causing this type of EDS is in the genes COL5A2, COL5A1, and less frequently COL1A1. It involves the skin more than hypermobile EDS. In classical EDS there is often large variation in symptom presentation from patient to patient. Because of this variance EDS has often been an under diagnosed disorder.
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The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy.
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The tester strains are specially constructed to detect either frameshift (e.g. strains TA-1537 and TA-1538) or point (e.g. strain TA-1531) mutations in the genes required to synthesize histidine, so that mutagens acting via different mechanisms may be identified. Some compounds are quite specific, causing reversions in just one or two strains.
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In terms of the genetics of Ullrich congenital muscular dystrophy, there are mutations in the genes COL6A1, COL6A2, and COL6A3. This sub-type of muscular dystrophy is autosomal recessive in nature. COL6A1 plays an important part in maintaining the human body's integrity of various tissues. Alpha 1 subunit of type VI collagen is the encoded protein.
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Influenza A viruses are enveloped, negative sense, single- stranded RNA viruses.ICTVdB Management (2006). 00.046.0.01. Influenzavirus A. In: ICTVdB - The Universal Virus Database, version 4. Büchen-Osmond, C. (Ed), Columbia University, New York, USA Genome analysis has shown that H3N8 was transferred from horses to dogs and then adapted to dogs through point mutations in the genes.
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They display a pattern of a dominance-hierarchy that can produce four coat colors. In the genes for the dog coat colours there are four alleles on the Agouti-locus. The allele "aw" is dominant over the alleles "at" and "a" but recessive under "Ay". Many other genes have multiple alleles, including the human genes for ABO blood type.
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Loose kernels of sweet corn Sweet corn (Zea mays convar. saccharata var. rugosa; also called sweetcorn, sugar corn and pole corn) is a variety of maize with a high sugar content. Sweet corn is the result of a naturally occurring recessive mutation in the genes which control conversion of sugar to starch inside the endosperm of the corn kernel.
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Renal agenesis is a medical condition in which one (unilateral) or both (bilateral) fetal kidneys fail to develop. Unilateral and bilateral renal agenesis in humans, mice and zebra fish has been linked to mutations in the gene GREB1L. It has also been associated with mutations in the genes RET or UPK3A. in humans and mice respectively.
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Mutations in the genes LAMB3, LAMC2, and COL17A1, are the cause of JEB. These genes are associated with the protein responsible for skin attachment to the underlying layers, laminin 332. When the genes undergo mutations, the protein is altered, making it dysfunctional. As a result, the skin is very fragile and may be damaged by even minor trauma.
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Christopher Gutierrez is a grandson of veteran Filipino actress and former movie queen Gloria Romero.Ramos, Ethel: "It's in the genes." Malaya Entertainment 26 November 2007 His grandfather is actor Juancho Gutierrez, another Philippine showbiz veteran actor.Showbiz blood in SCQ Batch 13 He is the only son of Maritess, a professional chef, the only daughter of Gloria and Juancho.
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Mutations in the genes that cause PCH produce faults in the production of chemicals, usually enzymes, that are required for the development of nerve cells (neurons) and for properly processing RNA, which is needed for any cell to function normally. The exact mechanism by which PCH affects the development of the cerebellum and pons is not well understood.
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Some sheep breeds show a range of fertility phenotypes due to eight single nucleotide polymorphisms (SNP) across the coding region of GDF9.Hanrahan, J. (2003). Mutations in the Genes for Oocyte-Derived Growth Factors GDF9 and BMP15 Are Associated with Both Increased Ovulation Rate and Sterility in Cambridge and Belclare Sheep (Ovis aries). Biology of Reproduction, 70(4), pp.
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Protein kinases, many of which are regulated by autophosphorylation, are vital in controlling the cellular proliferation, differentiation, metabolism, migration and survival. Mutations in the genes encoding them or their potential activators or repressors can affect any number of functions within an organism. Phosphorylation is easily reversed by phosphatases. Therefore, it is an effective method of turning 'on' and 'off' kinase activity.
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If the membrane receptors are denatured or deficient, the signal transduction can be hindered and cause diseases. Some diseases are caused by disorders of membrane receptor function. This is due to deficiency or degradation of the receptor via changes in the genes that encode and regulate the receptor protein. The membrane receptor TM4SF5 influences the migration of hepatic cells and hepatoma.
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Ohno's law was proposed by a Japanese-American biologist Susumu Ohno, saying that the gene content of the mammalian species has been conserved over species not only in the DNA content but also in the genes themselves. That is, nearly all mammalian species have conserved the X chromosome from their primordial X chromosome of a common ancestor.Ohno S (1967). Sex Chromosomes and sex-linked genes. Berlin:Springer-Verlag.
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RALD is caused by gain-of-function somatic mutations in the genes NRAS or KRAS. NRAS and KRAS are members of the RAS subfamily and are implicated in many types of cancer. Somatic mutations are changes in DNA that occur after conception. Although generally somatic mutations can develop in any cell of the body, in RALD the somatic mutations only reside in the blood cells.
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Genetic mutations and chromosomal abnormalities are two sources of HPG axis alteration. Single mutations usually lead to changes in binding ability of the hormone and receptor leading to inactivation or over activation. These mutations can occur in the genes coding for GnRH, LH, and FSH or their receptors. Depending on which hormone and receptor are unable to bind different effects occur but all alter the HPG axis.
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Andrikou and Arnone found that the orthologues of genes found in vertebrates had been changed through different types of structural mutations in the invertebrate deuterostomes and protostomes, and they argue that these structural changes in the genes allowed for a large divergence of muscle function and muscle formation in these species. Andrikou and Arnone were able to recognize not only any difference due to mutation in the genes found in vertebrates and invertebrates but also the integration of species specific genes that could also cause divergence from the original gene regulatory network function. Thus, although a common muscle patterning system has been determined, they argue that this could be due to a more ancestral gene regulatory network being coopted several times across lineages with additional genes and mutations causing very divergent development of muscles. Thus it seems that myogenic patterning framework may be an ancestral trait.
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When this does not work, public policies to prohibit the behaviors are instituted. After the main thrust of the movement, when reformers have failed to change behaviors even by legislation, a hereditarian, or eugenics movement reaches its prime. Reformers may reason that the root causes must be in the genes. During the cycle's ebb, popular changes or reforms that make sense, such as personal hygiene or sanitation, become institutionalized.
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These fossils are body impressions of organisms shaped like disks, fronds and some with ribbon patterns that were most likely tentacles. These are the earliest multicellular organisms in Earth's history, despite the fact that unicellularity had been around for a long time before that. The requirements for multicellularity were embedded in the genes of some of these cells, specifically choanoflagellates. These are thought to be the precursors for all animals.
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Mutated KAL1 genes leads to ill GnRH neuronal migration as well as olfactory neuron disorder causing anosmia and non-functional GnRH releasing neurons. Mutations of KAL1 are mostly nucleotide insertion or deletion causing frame shifts in the translation of anosmin-1 resulting in a faulty protein. Inactivating mutations in the genes encoding GNRH1 or its receptor will result in the failure of the HPG axis and give rise to normosmic CHH.
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There are several subtypes of endometrioid adenocarcinoma with similar prognoses, including villoglandular, secretory, and ciliated cell variants. There is also a subtype characterized by squamous differentiation. Some endometrioid adenocarcinomas have foci of mucinous carcinoma. The genetic mutations most commonly associated with endometrioid adenocarcinoma are in the genes PTEN, a tumor suppressor; PIK3CA, a kinase; KRAS, a GTPase that functions in signal transduction; and CTNNB1, involved in adhesion and cell signaling.
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Other risk factors include hormone therapy after menopause, fertility medication, and obesity. Factors that decrease risk include hormonal birth control, tubal ligation, and breast feeding. About 10% of cases are related to inherited genetic risk; women with mutations in the genes BRCA1 or BRCA2 have about a 50% chance of developing the disease. Ovarian carcinoma is the most common type of ovarian cancer, comprising more than 95% of cases.
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De Vries's mutationism was dealt a serious if not fatal blow in 1918 by the American geneticist Hermann Joseph Muller. He compared the behaviour of balanced lethals in Drosophila with De Vries's supposed mutations in Oenothera, showing that they could work the same way. No actual mutations were involved, but infrequent chromosome crossovers accounted for the sudden appearance of traits which had been present in the genes all along.
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A bradytroph is a strain of an organism that exhibits slow growth in the absence of an external source of a particular metabolite. This is usually due to a defect in an enzyme required in the metabolic pathway producing this chemical. Such defects are the result of mutations in the genes encoding these enzymes. As the organism can still produce small amounts of the chemical, the mutation is not lethal.
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One year later, he became a fellow in the Division of Hematology/Oncology at UCLA, Los Angeles. Slamon and his colleagues set out to find ways to target their treatments. They took breast cancer cells and mimicked what was happening in their patients, looking at genetic alterations in the genes that regulate growth. One of them was a gene called HER-2, human epidermal growth factor receptor No. 2.
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The pentatricopeptide repeat (PPR) is a 35-amino acid sequence motif. Pentatricopeptide-repeat-containing proteins are a family of proteins commonly found in the plant kingdom. They are distinguished by the presence of tandem degenerate PPR motifs and by the relative lack of introns in the genes coding for them. Approximately 450 such proteins have been identified in the Arabidopsis genome, and another 477 in the rice genome.
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Hemophilia, or haemophilia, is an X-linked recessive disorder that impairs the body's control over blood clotting. Haemophilia A and Haemophilia B arise from mutations in the genes for factor VIII and factor IX, respectively. Females with this disease are almost exclusively unaffected, obligate carriers. The mutations can be passed on to offspring by mothers and fathers, but the phenotype is only expressed in males that inherit the mutation.
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In the area of language acquisition, for example, some (such as Steven Pinker) have argued that specific information containing universal grammatical rules must be contained in the genes, whereas others (such as Jeffrey Elman and colleagues in Rethinking Innateness) have argued that Pinker's claims are biologically unrealistic. They argue that genes determine the architecture of a learning system, but that specific "facts" about how grammar works can only be learned as a result of experience.
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The language used by DNA is called the genetic code, which lets organisms read the information in the genes. This information is the instructions for constructing and operating a living organism. The information within a particular gene is not always exactly the same between one organism and another, so different copies of a gene do not always give exactly the same instructions. Each unique form of a single gene is called an allele.
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In primary cutaneous T cell lymphoma, blood and dermal eosinophilia are often seen. Lymphoma cells have also been shown to produce IL-5 in these disorders. Other types of lymphoid malignancies have been associated with eosinophilia, as in lymphoblastic leukemia with a translocation between chromosomes 5 and 14 or alterations in the genes which encode platelet-derived growth factor receptors alpha or beta. Patients displaying eosinophilia overexpress a gene encoding an eosinophil hematopoietin.
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Solutions that are included in the mating pool are referred to as parents. Individual solutions can be repeatedly included in the mating pool, with individuals of higher fitness values having a higher chance of being included multiple times. Crossover operators are then applied to the parents, resulting in recombination of genes recognized as superior. Lastly, random changes in the genes are introduced through mutation operators, increasing the genetic variation in the gene pool.
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In the absence of mutations of the COL7A1 gene, an autoimmune response against type VII collagen can result in an acquired form of epidermolysis bullosa called epidermolysis bullosa acquisita. There exist other types of inherited epidermolysis bullosa, junctional epidermolysis bullosa and epidermolysis bullosa simplex, which are not related to type VII collagen deficiency. These arise from mutations in the genes encoding other proteins of the epidermis or the basement membrane at the junction between the epidermis and the dermis.
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In the early 1990s, Straus and colleagues discovered autoimmune lymphoproliferative syndrome (ALPS), a rare genetic disorder in which the normal Fas-mediated apoptosis of lymphocytes is disrupted, leading to uncontrolled proliferation. He found mutations in the genes encoding Fas and Fas ligand, as well as caspase-10 and N-Ras, are associated with the disorder. He followed a cohort of over 200 people with ALPS, and showed that they have a substantially elevated risk of developing lymphoma.
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A stasis chamber was prepared and, knowing susceptibility to the disease is carried in the genes of the male line, both husband and son were imprisoned until a cure was found. As Pasc watches his wife's tear-stained face, Nuñez tells Helena the virus is curable. He has prepared a serum from the boy's blood...but Etrec seems incapable of replacing the blood volume he has lost. Pasc is devastated; with Etrec dying, he is left with nothing.
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The content of ribophorin of the rough endoplasmic reticulum is equal to the stoichiometric number of ribosomal units. Therefore, this suggests the great importance, abundance and good preservation of these proteins in the reticulum. Consequently, defects in the genes that encode these proteins may cause congenital disorders and devastating consequences; ribophorin I and II are encoded by the genes RPN1 and RPN2 respectively. The ribophorins are soluble in non-ionic detergents such as Triton X-100.
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Succinate is one of three oncometabolites, metabolic intermediates whose accumulation causes metabolic and non-metabolic dysregulation implicated in tumorigenesis. Loss-of-function mutations in the genes encoding succinate dehydrogenase, frequently found in hereditary paraganglioma and pheochromocytoma, cause pathological increase in succinate. SDH mutations have also been identified in gastrointestinal stromal tumors, renal tumors, thyroid tumors, testicular seminomas and neuroblastomas. The oncogenic mechanism caused by mutated SHD is thought to relate to succinate's ability to inhibit 2-oxogluterate-dependent dioxygenases.
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The underlying causes of CVID are largely obscure. Genetic mutations can be identified as the cause of disease in about 10% of people, while familial inheritance accounts for 10-25% of cases. Rather than arising from a single genetic mutation, CVID seems to result from variety of mutations that all contribute to a failure in antibody production. Mutations in the genes encoding ICOS, TACI, CD19, CD20, CD21, CD80 and BAFFR have been identified as causative of CVID.
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Aminolevulinic Acid Synthase Deficiency results in a lack of ability to create heme since its job is to catalyze the first step in the process. These deficiencies are often a result of genetic mutation that can result in a variety of diseases. One such disease is x-linked sideroblastic anemia which results in the appearance of red blood cells in the bone marrow. This disease is linked specifically with mutations in the genes that encode for ALAS2.
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The DAZ (Deleted in AZoospermia) protein family is a group of three highly conserved RNA-binding proteins that are important in gametogenesis and meiosis. Therefore, mutations in the genes that encode for the DAZ proteins can have detrimental consequences for fertility. The three members of the DAZ protein family include BOULE (BOLL), DAZL (DAZLA) and DAZ (DAZ1, DAZ2, DAZ3 and DAZ4). DAZ1 is located on the Y chromosome in higher primates and is important for spermatogenesis.
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Rethinking Innateness applied insights from neurobiology and neural network modelling to brain development. It questioned whether some of the "hard nativist" positions, such as those adopted by Noam Chomsky, Steven Pinker and Elizabeth Spelke, are biologically plausible. For example, the authors challenged a claim by Pinker that children are born with innate domain- specific knowledge of the principles of grammar, by questioning how the knowledge that Pinker suggests might actually be encoded in the genes. Elman et al.
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The 16S rRNA DNA sequences are not always consistent with the phylogenetic analysis of the Sofolobales order of bacteria. However, a 16S rRNA analysis was performed on the members of Sulfolobales to make a phylogenetic tree. The closest member is the Sulfolobus strain LM, sharing 98.2% of the genome that codes for the 16S rRNA. Of the Sulfolobales, it is least related to Sulfolobus hakonensis with a 15.7% difference in the genes that code for the 16S rRNA.
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Related disorders in the same disease spectrum as HDLS include Nasu-Hakola disease (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy), and a type of leukodystrophy with pigment-filled macrophages called pigmentary orthochromatic leukodystrophy (POLD). In addition to white matter disease, Nasu-Hakola causes bone cysts. It is caused by mutations in the genes involved in the same colony stimulating factor (CSF) signaling pathway cascade as identified in HDLS.Paloneva, J., Mandelin, J., Kiialainen, A., Böhling, T., Prudlo, J., Hakola, P., . . .
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The key phase in domestication appears to have been changes in social behavior and its corresponding oxytocin receptor genes and neural-related genes. Behavior differences between dogs and wolves may be contributed by structural variation in the genes that are associated with human Williams-Beuren syndrome. This syndrome causes increased hyper-sociability, which may have been important during domestication. Unlike other domestic species which were primarily selected for production-related traits, dogs were initially selected for their behaviors.
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Once differentiated tissues are formed, CpG island methylation is generally stably inherited from one cell division to the next through the DNA methylation maintenance machinery. In cancer, a number of mutational changes are found in protein coding genes. Colorectal cancers typically have 3 to 6 driver mutations and 33 to 66 hitchhiker or passenger mutations that silence protein expression in the genes affected. However, transcriptional silencing may be more important than mutation in causing gene silencing in progression to cancer.
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This sequence is lost in later forms of IF proteins, suggesting that the structure of later intermediate filaments diverged. After this research, investigations of lamins slowed. Studies of lamins became more popular in the 1990s when it was discovered that mutations in the genes that code for lamins can be related to muscular dystrophies, cardiomyopathies, and neuropathies. Current research is being performed to develop treatment methods for the aforementioned laminopathies and to investigate the role lamins play in the aging process.
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Childhood to early adult onset HNPCC + malignant gliomas. The polyps developed tend to be larger, fewer, and progress to malignancy earlier than those seen in familial adenomatous polyposis, a clinically similar condition with different underlying mutations. Diagnostic testing consists of a blood sample being collected, and a genetic specialist compares two copies of a patient's gene to normal MMR genes. If there are differences in the genes, the specialists are able to further test and decide if the patient has the deficiency.
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Berkeley bodies are organelles unique to the yeast cell Saccharomyces cerevisiae, with a secretory mutation in the genes sec7 and sec14. The function of the organelle lies in the CTV (cytoplasm to vacuole targeting) pathway, which is a transport pathway for certain vacuolar hydrolases to be degenerated. The Berkeley body acts as the transport medium from the cytoplasm to the vacuole within this pathway. Studies have shown that Berkeley bodies share structural similarities with autophagosomes, which are involved in autophagy.
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The word evolution in a broad sense refers to processes of change, from stellar evolution to changes in language. In biology, the meaning is more specific: heritable changes which accumulate over generations of a population. Individual organisms do not evolve in their lifetimes, but variations in the genes they inherit can become more or less common in the population of organisms. Any changes during the lifetime of organisms which are not inherited by their offspring are not part of biological evolution.
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Mutations in the genes for deoxyguanosine kinase along with myophosphorylase have been associated with muscle glycogenosis and mitochondrial hepatopathy. The duplication in exon 6 of dGK that results in a truncated protein and the G456A PYGM mutation have been associated with phosphorylase deficiency in muscle, cytochrome c oxidase deficiency in liver, severe congenital hypotonia, hepatomegaly, and liver failure. This expands on the current understanding of McArdle disease and suggests that this combination of mutations could result in a complex disease with severe phenotypes.
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For example, there are many mutations that confer resistance to isoniazid (INH), including in the genes katG, inhA, ahpC and others. Amino acid replacements in the NADH binding site of InhA apparently result in INH resistance by preventing the inhibition of mycolic acid biosynthesis, which the bacterium uses in its cell wall. Mutations in the katG gene make the enzyme catalase peroxidase unable to convert INH to its biologically active form. Hence, INH is ineffective and the bacteria is resistant.
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Tryptophan repressor (or trp repressor) is a transcription factor involved in controlling amino acid metabolism. It has been best forstudied in Escherichia coli, where it is a dimeric protein that regulates transcription of the 5 genes in the tryptophan operon. When the amino acid tryptophan is plentiful in the cell, it binds to the protein, which causes a conformational change in the protein. The repressor complex then binds to its operator sequence in the genes it regulates, shutting off the genes.
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Mutations in the genes TGFBR 1 and 2 are known to cause dissections in aortas with normal diameter size (>4.3 cm) and gene FPN1 mutations typically affect aortas with larger diameters (<4.4 cm). There are several hypotheses which attempt to explain how the dissection physically occurs. The first states that a tear develops in the intima layer of the aorta which allows blood to flow from the lumen of the aorta into the intima. This event creates a dissection and essentially two lumens.
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Illumina Genome Analyzer II sequencing machine Illumina produces a number of next-generation sequencing machines using technology acquired from Manteia Predictive Medicine and developed by Solexa.Solexa's Progress Is In The Genes - Businessweek Illumina makes a number of next generation sequencing machines using this technology including the HiSeq, Genome Analyzer IIx, MiSeq and the HiScanSQ, which can also process microarrays.Illumina Systems The technology leading to these DNA sequencers was first released by Solexa in 2006 as the Genome Analyzer. Illumina purchased Solexa in 2007.
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Study results of serum levels have been conflicting. A recent meta-analysis suggests that no clear relationship exists, and that perhaps previous studies have been confounded by other factors. For example, people who have a higher campesterol level related to a diet high in fruits and nuts may be consuming a Mediterranean-style diet, thus have lower risk because of other lipids or lifestyle factors. Intestinal absorption of cholesterol varies between individuals due to variations in the genes that encode for two proteins.
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Roussy–Lévy syndrome, also known as Roussy–Lévy hereditary areflexic dystasia, is a rare genetic disorder of humans that results in progressive muscle wasting. It is caused by mutations in the genes that code for proteins necessary for the functioning of the myelin sheath of the neurons, affecting the conductance of nerve signals and resulting in loss of muscles' ability to move. The condition affects people from infants through adults and is inherited in an autosomal dominant manner. Currently, no cure is known for the disorder.
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The protein encoded by this gene is involved in antibody and T-cell receptor V(D)J recombination. RAG-1 is involved in recognition of the DNA substrate, but stable binding and cleavage activity also requires RAG-2. The RAG-1/2 complex recognizes recombination signal sequences (RSSs) that flank the V, D and J regions in the genes that encode the heavy and light chains of antibodies and components of T-cell receptors. The complex binds to the RSSs and nicks the DNA.
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He suggested that the mechanism behind this phenomenon was a little understood biological process at the time called phenotypic plasticity. This challenged the typological view of all cave creatures as completely differentiated from a genetic viewpoint from their surface (epigean) ancestors. According to Romero all what was needed for the evolution of drastically morphologically distinct cave species were just a few changes in the genes controlling the development of features such as eyes and pigmentation. These and other ideas were summarized in a book.
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This results in autosomal-dominant dopamine-responsive dystonia . Mutations in the genes for tyrosine hydroxylase and sepiapterin reductase result in autosomal-recessive forms of the disease. When the latter enzyme is affected, the condition tends to be more severe. The activity of dopaminergic neurons in the nigrostriatal pathway normally peaks during the morning and also decreases with age until after age 20, which explains why the symptoms worsen during the course of the day and with increasing age until the third decade of life.
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A mutation in a gene that is regulated by aldosterone. Linkage analysis on patients suffering from the severe form of PHA excluded the possibility of linkage of the disease with the mineralocorticoid receptor gene region. Later, the severe form of PHA was discovered to be due to mutations in the genes SCNN1A, SCNN1B, and SCNN1G that code for the epithelial sodium channel subunits, α, β, and γ, respectively. A stop mutation in the SCNN1A gene has been shown to be associated with female infertility.
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46,XY gonadal dysgenesis is characteristic of male hypogonadism with karyotype 46,XY. In embryogenesis, the development of the male gonads is controlled by the testis determining factor located on the sex-determining region of the Y chromosome (SRY). The male gonad is dependent on SRY and the signalling pathways initiated to several other genes to facilitate testis development. The aetiology of 46,XY gonadal dysgenesis can be caused by mutations in the genes involved in testis development such as SRY, SOX9, WT1, SF1, and DHH.
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The human gene maps to the long arm of chromosome 13 at position 13q14, a chromosomal region that has long been linked to asthma and other allergic diseases. The gene consists of four exons with all introns located in the genes' 5' UTR region and the entire coding region located in the last exon. 'CysLTR2 encodes a protein composed of 347 amino acids and shows only modest similarity to the CysLTR1 gene in that its protein shares only 31% amino acid identity with the CysLTR1 protein.
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Clinically, the patients are characterized by only modest QT prolongation, but an increased propensity for atrial arrhythmias. LQT14, LQT15 and LQT16 are caused by variants in the genes responsible for calmodulin (CALM1, CALM2, and CALM3 respectively). Calmodulin interacts with several ion channels and its roles include modulation of the L-type calcium current in response to calcium concentrations, and trafficking the proteins produced by KCNQ1 and thereby influencing potassium currents. The precise mechanisms by which means these genetic variants prolong the QT interval remain uncertain.
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Several diseases have been associated with mutations in the genes encoding for myosin light chain proteins. The majority of these diseases are cardiomyopathies, such as hypertrophic (HCM) or dilated (DCM) cardiomyopathy and sudden cardiac death. Mutations in MYL2 and MYL3 have been reported for these diseases . One study, published in 2012, found that valvular myosin 'LC1', in the hearts of three patients with valvular heart diseases, had structures similar to those of valvular myosin of people who were in their early stages of DCMP and HCMP.
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However, due to occasional mutations in the genes controlling anthocyanin production, yellow-fruited variants ("yellow raspberries") sometimes occur, and have been occasionally propagated, especially in home/farm gardens in the midwestern United States (e.g., Ohio). The yellow-fruited variants of the black raspberry retain that species' distinctive flavor, different from the similar-appearing pale-fruited variants of cultivated red raspberries (generally the Eurasian Rubus idaeus, but with some being the North American Rubus strigosus, and other cultivars representing hybrids between these two widespread species).
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D. mettleri prefers to breed in soil moisturized in the sap of injured cacti, while D. nigrospiracula is found in the tissue of the cactus itself and is thus subjected to less concentrated toxin levels as compared to D. mettleri. An up- regulation in the genes encoding for xenobiotic resistance are attributed to the specialized and highly efficient detoxification ability of D. mettleri in comparison to other species. This enables the species to use a breeding ground otherwise lethal to both larvae and adults.
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The difficulty expressed in placing the species in the proper family is due to the unique floral morphology. How this inverted position of the androecium and gynoecium evolved is unknown, but some studies have posed hypotheses. Davidse and Martínez suggested that L. schismatica could be one of Richard Goldschmidt's "hopeful monsters", meaning that the inverted floral morphology could have arisen from a macromutation in the genes that control floral development. It is also possible that chromosomal repatterning, also known as chromosomal rearrangement, was the origin of this species.
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2011.81 The crucial role of ColVI in skeletal muscle can be seen by the fact that mutations in the genes responsible for encoding ColVI cause diseases affecting the function of skeletal muscle, including Ullrich congenital muscular dystrophy and Bethlem myopathy.Jöbsis, G. J., Keizers, H., Vreijling, J. P., de Visser, M., Speer, M. C., Wolterman, R. A., Baas, F. and Bolhuis, P. A. (1996). Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. Nat. Genet. 14, 113-115. doi:10.1038/ng0996-113Camacho Vanegas, O., Bertini, E., Zhang, R.-Z.
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So, when the naive cells belonging to a particular clone encounter their specific antigen to give rise to the plasma cells, and also leave a few memory cells, this is known as the primary immune response. In the course of proliferation of this clone, the B cell receptor genes can undergo frequent (one in every two cell divisions) mutations in the genes coding for paratopes of antibodies. These frequent mutations are termed somatic hypermutation. Each such mutation alters the epitope-binding ability of the paratope slightly, creating new clones of B cells in the process.
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Some of the newly created paratopes bind more strongly to the same epitope (leading to the selection of the clones possessing them), which is known as affinity maturation.Affinity roughly translates as attraction from Latin. See also: Definition of Affinity from Online Etymology Dictionary and Definition of Affinity from TheFreeDictionary by Farlex Other paratopes bind better to epitopes that are slightly different from the original epitope that had stimulated proliferation. Variations in the epitope structure are also usually produced by mutations in the genes of pathogen coding for their antigen.
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Although many patients experience aHUS as a single disease, comorbidities are common. In one study, 25% (47/191) of patients with no known family history of aHUS were found to have a coexisting disease or condition. Comorbidities in this study included malignant hypertension (30%), TMA with a history of transplant (23%), TMA associated with pregnancy (21%), glomerulopathy (17%), systemic disease such as systemic lupus erythematosus (SLE) or progressive systemic sclerosis (PSS) (6%), and malignancy (1%). The presence of mutations in complement regulatory proteins, or of disease-associated variations in the genes encoding these proteins (i.e.
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Further studies are needed to assess the validity of this claim. Additionally, mutations in the genes for myophosphorylase along with deoxyguanosine kinase have been associated with muscle glycogenosis and mitochondrial hepatopathy. The G456A PYGM mutation and duplication in exon 6 of dGK that results in a truncated protein have been associated with phosphorylase deficiency in muscle, cytochrome c oxidase deficiency in liver, severe congenital hypotonia, hepatomegaly, and liver failure. This expands on the current understanding of McArdle disease and suggests that this combination of mutations could result in a complex disease with severe phenotypes.
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This is because there are many forms of changes in BRCA genes, ranging from harmless polymorphisms to obviously dangerous frameshift mutations. The effect of most of the identifiable changes in the genes is uncertain. Testing in an average-risk person is particularly likely to return one of these indeterminate, useless results. Removing the second breast in a person who has breast cancer (contralateral risk‐reducing mastectomy or CRRM) may reduce the risk of cancer in the second breast, however, it is unclear if removing the second breast in those who have breast cancer improves survival.
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Specifically, aggregation of TDP-43, an RNA- binding protein, has been found in ALS/MND patients, and mutations in the genes coding for these proteins have been identified in familial cases of ALS/MND. These mutations promote the misfolding of the proteins into a prion- like conformation. The misfolded form of TDP-43 forms cytoplasmic inclusions in afflicted neurons, and is found depleted in the nucleus. In addition to ALS/MND and FTLD-U, TDP-43 pathology is a feature of many cases of Alzheimer's disease, Parkinson's disease and Huntington's disease.
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This phenomenon occurs when complementary molecules on opposing cell surfaces meet. A receptor on one cell surface binds to its specific ligand on a nearby cell, initiating a cascade of events which regulate cell behaviors ranging from simple adhesion to complex cellular differentiation.Schnaar, Ronald L., Research Goals, "Link", 1 May 2010 Like other cellular functions, cell-cell recognition is impacted by detrimental mutations in the genes and proteins involved and is subject to error. The biological events that unfold due to cell-cell recognition are important for animal development, microbiomes, and human medicine.
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Antiviral drugs typically target key components of viral reproduction; for example, oseltamivir targets influenza neuraminidase, while guanosine analogs inhibit viral DNA polymerase. Resistance to antivirals is thus acquired through mutations in the genes that encode the protein targets of the drugs. Resistance to HIV antivirals is problematic, and even multi-drug resistant strains have evolved. One source of resistance is that many current HIV drugs, including NRTIs and NNRTIs, target reverse transcriptase; however, HIV-1 reverse transcriptase is highly error prone and thus mutations conferring resistance arise rapidly.
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Mutations in the genes that control the formation of down feathers have been recorded in a German White Leghorn flock. Although the elements of a normal down feather are present, a hyperkeratosis of the feather's horny sheath after 16–17 days of incubation results in the sheath not splitting as it should during the final stages of the feather's growth. Because of that abnormal splitting, the bird's down appears to be matted; chicks with this condition look bristly and singed and tend to be lighter in body weight than normal chicks are.
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Cloning studies have been carried out on DNA in the genes associated with the affected homeotic functions in the mutants discussed above. These studies used serial analysis of gene expression throughout floral development to show patterns of tissue expression, which, in general, correspond with the predictions of the ABC model. The nature of these genes corresponds to that of transcription factors, which, as expected, have analogous structures to a group of factors contained in yeasts and animal cells. This group is called MADS, which is an acronym for the different factors contained in the group.
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Naxos disease (also known as "Diffuse non-epidermolytic palmoplantar keratoderma with woolly hair and cardiomyopathy," "Diffuse palmoplantar keratoderma with woolly hair and arrhythmogenic right ventricular cardiomyopathy firstly described in Naxos island by Dr Nikos Protonotarios," and "Naxos disease") is a cutaneous condition characterized by a palmoplantar keratoderma. The prevalence of the syndrome is up to 1 in every 1000 people in the Greek islands. It has been associated with mutations in the genes encoding the proteins desmoplakin, plakoglobin, desmocollin-2, and SRC-interacting protein (SIP). A variation of Naxos syndrome is known as Carvajal syndrome.
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In a minority of cases, this occurs as part of a multiple endocrine neoplasia (MEN) syndrome, either type 1 (caused by a mutation in the gene MEN1) or type 2a (caused by a mutation in the gene RET), which is also associated with the adrenal tumor pheochromcytoma. Other mutations that have been linked to parathyroid neoplasia include mutations in the genes HRPT2 and CASR.Marx SJ. (2011) Hyperparathyroid Genes: Sequences Reveal Answers and Questions. Endocr. Pract. Patients with bipolar disorder who are receiving long-term lithium treatment are at increased risk for hyperparathyroidism.
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Thale cress, Arabidopsis thaliana, the first plant to have its genome sequenced, remains the most important model organism. A considerable amount of new knowledge about plant function comes from studies of the molecular genetics of model plants such as the Thale cress, Arabidopsis thaliana, a weedy species in the mustard family (Brassicaceae). The genome or hereditary information contained in the genes of this species is encoded by about 135 million base pairs of DNA, forming one of the smallest genomes among flowering plants. Arabidopsis was the first plant to have its genome sequenced, in 2000.
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Dr. Sly also identified the first inherited deficiency of a human carbonic anhydrase, CA II, and defined the biochemical and molecular genetics of this disorder. His laboratory has since characterized many other carbonic anhydrases and produced mouse models of several CA deficiencies. With collaborators, he identified other human diseases attributed to mutations in the genes encoding CA IV, CA VA, and CA XII. Dr. Sly has also done research on hereditary hemochromatosis, collaborating on studies leading to the cloning of the HFE gene and identification of the product it encodes.
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The term intron refers to both the DNA sequence within a gene and the corresponding sequence in RNA transcripts. Sequences that are joined together in the final mature RNA after RNA splicing are exons. Introns are found in the genes of most organisms and many viruses and can be located in a wide range of genes, including those that generate proteins, ribosomal RNA (rRNA) and transfer RNA (tRNA). When proteins are generated from intron-containing genes, RNA splicing takes place as part of the RNA processing pathway that follows transcription and precedes translation.
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Classes of organisms – producers, predators, pollinators, parasites – serve specific ecosystem functions. The form and its function are encoded in the genes of species, which allow the distributed local manufacturing of organisms necessary to fulfill needed ecosystem functions within the context of a globally integrated system. In contrast, human manufacturing has tended to emphasize the commercialization of a specific product form rather than the underlying function that the product is intended to serve. Implementing the Biosphere Rules requires that engineers to shift design thinking towards providing a desired function, using the capabilities of the sustainable product platform as a design constraint on form.
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High-dose niacin has since become a treatment option for individuals with high blood cholesterol and related blood lipid abnormalities. At such high doses niacin acts like a drug rather than a vitamin and may have side effects of intense flushing of the face and torso and, rarely, liver toxicity. Hoffer continued to promote niacin as a treatment for schizophrenia, though this approach was not accepted by mainstream medicine. Subsequent research suggested that Hoffer's adrenochrome theory had merit as people with schizophrenia have defects in the genes that produce glutathione S-transferase, which eliminates the byproducts of catecholamines from the brain.
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The BGMUT (Blood Group antigen gene MUTation) Database documents allelic variations in the genes encoding for human blood group systems. It was set up in 1999 through an initiative of the Human Genome Variation Society (HGVS). Since 2006, it has been a part of the dbRBC (database Red Blood Cells) resource of NCBI at the NIH. In addition to being a repository of the genetic variations of the blood group antigen-encoding genes, the database also provides information on the blood group systems, the genes that encode them, the serological phenotypes associated with the alleles of the genes, etc.
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The enzymes are trafficked from the Golgi apparatus to lysosomes in small vesicles, which fuse with larger acidic vesicles. Enzymes destined for a lysosome are specifically tagged with the molecule mannose 6-phosphate, so that they are properly sorted into acidified vesicles. In 2009, Marco Sardiello and coworkers discovered that the synthesis of most lysosomal enzymes and membrane proteins is controlled by transcription factor EB (TFEB), which promotes the transcription of nuclear genes. Mutations in the genes for these enzymes are responsible for more than 50 different human genetic disorders, which are collectively known as lysosomal storage diseases.
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The vast majority of cancers are non-hereditary (sporadic). Hereditary cancers are primarily caused by an inherited genetic defect. Less than 0.3% of the population are carriers of a genetic mutation that has a large effect on cancer risk and these cause less than 3–10% of cancer. Some of these syndromes include: certain inherited mutations in the genes BRCA1 and BRCA2 with a more than 75% risk of breast cancer and ovarian cancer, and hereditary nonpolyposis colorectal cancer (HNPCC or Lynch syndrome), which is present in about 3% of people with colorectal cancer, among others.
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Certain inherited mutations in the genes BRCA1 and BRCA2 with a more than 75% risk of breast cancer and ovarian cancer. Some of the inherited genetic disorders that can cause colorectal cancer include familial adenomatous polyposis and hereditary non-polyposis colon cancer; however, these represent less than 5% of colon cancer cases. In many cases, genetic testing can be used to identify mutated genes or chromosomes that are passed through generations. Gene mutations are classified as germline or somatic depending on the cell type where they appear (germline cells include the egg and the sperm and somatic cells are those forming the body).
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One type of MHC class II deficiency, also called bare lymphocyte syndrome, is due to mutations in the genes that code for transcription factors that regulate the expression of the MHC class II genes. It results in the depletion of CD4 T cells and some immunoglobulin isotypes even though there are normal levels of both CD8 Cells and B cells present. Deficient MHC class II molecules are unable to present antigens to T cells and properly activate T cells. T cells are then unable to proliferate, and secrete cytokines which normally participate in the immune response.
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And among 62 Hui men from Ningxia in the north central area, 1.6% were G1 and 1.6% were G2a (P15) but not P16 or M286. No G at all found among Hui elsewhere or in Tibet (262 samples) or among the Xibe, Hazak, Evenks, Bulang, Wa, Jing, Dai, Zhuang, Dong, Mulao, Buyi, Li, Maonan, Shui, Gelao, Miao, Yao, She, Bai, Hani, Jingpo, Lahu, Lisu Naxi, Yi, Tujia, Hui, Man or Kyrgyz men sampled at various locations. In a newer genetic study, Y-DNA G-M201 was found in the genes of a few Han Chinese individuals from Ningxia province and Beijing.
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This provides a degree of resolution greater than PFGE and is currently the standard for typing M. tuberculosis. However, with regard to archaeological remains, additional evidence may be required because of possible contamination from related soil bacteria. Antibiotic resistance in M. tuberculosis typically occurs due to either the accumulation of mutations in the genes targeted by the antibiotic or a change in titration of the drug. M. tuberculosis is considered to be multidrug-resistant (MDR TB) if it has developed drug resistance to both rifampicin and isoniazid, which are the most important antibiotics used in treatment.
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Because sex-limited genes are present in both sexes but only expressed in one, this allows the unexpressed genes to be hidden from selection. On a short-term scale, this means that during one generation, only the sex that expresses the sex-limited trait(s) of interest will be affected by selection. The remaining half of the gene pool for these traits will be unaffected by selection because they are hidden (unexpressed) in the genes of the other sex. Since a portion of the alleles for these sex-limited traits are hidden from selection, this occurrence has been termed 'storage-effect'.
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Reijo Pera has cited her experience of developing a rare kind of ovarian cancer, called a granulosa cell tumour, early in her career as a motivating factor for her decision to study embryonic development and fertility. The cancer resulted in her own loss of fertility. In men, her research team and collaborators have investigated mechanisms of male infertility. In a study published in 2000, she found that some infertile men have mutations in the genes required for DNA repair, which in turn may lead to defects in meiotic cell division—also known as meiotic arrest—and inviable sperm.
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Sancar and his research team have discovered that two genes, Period and Cryptochrome, keep the circadian clocks of all human cells in proper rhythm, syncing them to the 24 hours of the day and seasons. Their findings were published in the Genes and Development journal in September 16, 2014. Sancar's research has provided a complete understanding of the workings of Circadian clocks in humans, which may be used to treat a wide range of different illnesses and disorders such as jet-lag and seasonal affective disorder, and may be useful in controlling and optimizing various cancer treatments.
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MDDS is caused by mutations that may be inherited from the parents or may form spontaneously during development of the fetus. MDDS is associated with mutations in the genes TK2, SUCLA2, RRM2B, DGUOK, POLG, TYMP, SUCLG1, and TWNK. Myopathic MDS is strongly correlated to a variety of mutations in the gene TK2, seeing a reduction of TK2 activity to less than 32% in people with MDS found with the mutation. Because TK2 plays a key role in the mitochondrial salvage pathways of several deoxyribonucleoside triphosphates (dNTPs), a lowered activity would lead to less cycling of nucleotides.
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One of the causes of Parkinson's disease is mutations in genes encoding for different proteins that are localized at the MAM sites. Mutations in the genes that encode the proteins Parkin, PINK1, alpha-Synuclein (α-Syn) or the protein deglycase DJ-1 have been linked to this disease through research. However, further research is still being considered in order to determine the direct correlations of these genes to Parkinson’s disease. In normal conditions, these genes are believed to be responsible for the cells ability to degrade mitochondria that has been rendered nonfunctional in a process known as mitophagy.
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Romano–Ward syndrome is the most common form of congenital Long QT syndrome (LQTS), a genetic heart condition that affects the electrical properties of heart muscle cells. Those affected are at risk of abnormal heart rhythms which can lead to fainting, seizures, or sudden death.update 2015 Romano–Ward syndrome can be distinguished clinically from other forms of inherited LQTS as it affects only the electrical properties of the heart, while other forms of LQTS can also affect other parts of the body. Romano–Ward syndrome is caused by abnormal variants in the genes responsible for producing certain proteins used to transport charged particles (ion channels) within the heart.
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3-M syndrome is most often caused by a mutation in the gene CUL7 affecting three-quarters of affected individuals, including those in the Yakut population, but can also be seen with mutations in the genes OBS1 and CCDC8 at lower frequencies, about 16 percent of cases of this disorder. Mutations in other genes, some of which have not been identified, account for the remaining cases. This is an inheritable disorder and can be passed down from parent to offspring in an autosomal recessive pattern. An individual must receive two copies of the mutated gene, one from each parent, in order to be have 3-M syndrome.
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However, if selection has only been acting for the past 15,000 years then there has been insufficient time for thrifty genes to spread at all. It is argued instead that the modern distribution of the obese phenotype likely comes about because of genetic drift in the genes encoding the regulation system controlling an upper limit on our body fatness. Hence the name "drifty" genes, to contrast the positively selected "thrifty genes". Such drift may have started because around 2 million years ago when ancestral humans effectively removed the risk of predation, which was probably a key factor maintaining the upper boundary of the regulation system.
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For the remaining percentage of individuals, 14-15%, ADHD may have been caused due to their environment, such as trauma in the womb or during birth. Changes in the genes that influence the neurochemicals serotonin, dopamine, and norepinephrine levels can cause them to be overactive or under active, possibly playing a role in the development of an individual with ADHD. It has also been shown that activity in the frontal lobe is decreased in an individual with ADHD compared to an individual without ADHD. The Adult ADHD Self-Reporting Scale was created to estimate the pervasiveness of an adult with ADHD in an easy self survey.
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97-98Benjamin A. Pierce, Genetics: A Conceptual Approach (2012), p. 73 To compensate for the difference in size, one of the female's X chromosomes is randomly inactivated in each cell of placental mammals while the paternally derived X is inactivated in marsupials. In birds and some reptiles, by contrast, it is the female which is heterozygous and carries a Z and a W chromosome whilst the male carries two Z chromosomes. Intersex conditions can also give rise to other combinations, such as XO or XXX in mammals, which are still considered as female so long as they do not contain a Y chromosome, except for specific cases of mutations in the genes of XY individuals while in the womb.
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TLR mutations Mutations in mammalian receptor proteins can cause disorders in cell-cell recognition, increasing individual susceptibility to certain pathogens and chronic conditions. When mutations occurs in genes that code for TLRs, the proteins can lose the ability to bind with polysaccharides, lipids, or proteins on the cell wall or membrane of single-celled pathogens, resulting in a failure of the innate immune system to respond to infection that allows disease to develop rapidly. In particular, mutations in the genes for TLR2 and TLR4 have been frequently implicated in increased susceptibility to pathogens.MR Bhide, R Mucha, I Mikula Jr, L Kisova, R Skrabana, M Novak, I Mikula Sr. Novel mutations in TLR genes cause hyporesponsiveness to Mycobacterium avium subsp.
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The AR plays a role in regulating female sexual, somatic, and behavioral functions. Experimental data using AR knockout female mice, provides evidence that the promotion of cardiac growth, kidney hypertrophy, cortical bone growth and regulation of trabecular bone structure is a result of DNA-binding-dependent actions of the AR in females. Moreover, the importance of understanding female androgen receptors lies in their role in several genetic disorders including androgen insensitivity syndrome (AIS). Complete (CAIS) and partial (PAIS) which are a result of mutations in the genes that code for AR. These mutations cause the inactivation of AR due to mutations conferring resistance to circulating testosterone, with more than 400 different AR mutations reported.
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Supporters of the "introns early theory" believed that introns and RNA splicing were the relics of the RNA world and therefore both prokaryotes and eukaryotes had introns in the beginning. However, prokaryotes eliminated their introns in order to obtain a higher efficiency, while eukaryotes retained the introns and the genetic plasticity of the ancestors. On the other hand, supporters of the "introns late" theory believe that prokaryotic genes resemble the ancestral genes and introns were inserted later in the genes of eukaryotes. What is clear now is that the eukaryotic exon- intron structure is not static, introns are continually inserted and removed from genes and the evolution of introns evolves parallel to exon shuffling.
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Hair is a very good thermal conductor and aids heat transfer both into and out of the body. When goose bumps are observed, small muscles (arrector pili muscle) contract to raise the hairs both to provide insulation, by reducing cooling by air convection of the skin, as well as in response to central nervous stimulus, similar to the feeling of 'hairs standing up on the back of your neck'. This phenomenon also occurs when static charge is built up and stored in the hair. Keratin however can easily be damaged by excessive heat and dryness, suggesting that extreme sun exposure, perhaps due to a lack of clothing, would result in perpetual hair destruction, eventually resulting in the genes being bred out in favor of high skin pigmentation.
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Experiments to identify the genetic basis for neural induction were conducted by exposing Xenopus embryos to UV radiation, which causes them to develop with no head. Dr. Richard Harland and Dr. William Smith extracted mRNA from the dorsal lip of normally developing Xenopus embryos that was then injected into the UV-radiated embryos to see if normal head development could be rescued. These experiments determined that noggin mRNA can induce normal head and brain development, and that increasing levels of noggin result in larger brain structures and eventually a secondary axis. Similar experiments in the lab of Dr. Edward DeRobertis identified that chordin cDNA could also induce a secondary axis, suggesting that there is redundancy in the genes that code for neural development.
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The location of the gene responsible for Rett syndrome Genetically, Rett syndrome (RTT) is caused by mutations in the gene MECP2 located on the X chromosome (which is involved in transcriptional silencing and epigenetic regulation of methylated DNA), and can arise sporadically or from germline mutations. In less than 10% of RTT cases, mutations in the genes CDKL5 or FOXG1 have also been found to resemble it. Rett syndrome is initially diagnosed by clinical observation, but the diagnosis is definitive when there is a genetic defect in the MECP2 gene. In some very rare cases, no known mutated gene can be found; possibly due to changes in MECP2 that are not identified by presently used techniques or mutations in other genes that may result in clinical similarities.
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Mutations accumulate through time in the genes and with natural selection acting on the genes, some mutations lead to environmental advantages allowing those genes to be inherited and eventually clear gene families are separated out. An example of a gene family that may have been created due to copy number variations is the globin gene family. The globin gene family is an elaborate network of genes consisting of alpha and beta globin genes including genes that are expressed in both embryos and adults as well as pseudogenes. These globin genes in the globin family are all well conserved and only differ by a small portion of the gene, indicating that they were derived from a common ancestral gene, perhaps due to duplication of the initial globin gene.
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Mutations in the human homologues of the Mut proteins affect genomic stability, which can result in microsatellite instability (MSI), implicated in some human cancers. In specific, the hereditary nonpolyposis colorectal cancers (HNPCC or Lynch syndrome) are attributed to damaging germline variants in the genes encoding the MutS and MutL homologues MSH2 and MLH1 respectively, which are thus classified as tumour suppressor genes. One subtype of HNPCC, the Muir-Torre Syndrome (MTS), is associated with skin tumors. If both inherited copies (alleles) of a MMR gene bear damaging genetic variants, this results in a very rare and severe condition: the mismatch repair cancer syndrome (or constitutional mismatch repair deficiency, CMMR-D), manifesting as multiple occurrences of tumors at an early age, often colon and brain tumors.
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The signalling pathway is also crucial for eye development in the fruit fly (Drosophila melanogaster). When mutations occur in genes coding for JAKs, some cells in the eye may be unable to divide, and other cells, such as photoreceptor cells, have been shown not to develop correctly. The entire removal of a JAK and a STAT in Drosophila causes death of Drosophila embryos, whilst mutations in the genes coding for JAKs and STATs can cause deformities in the body patterns of flies, particularly defects in forming body segments. One theory as to how interfering with JAK-STAT signalling might cause these defects is that STATs may directly bind to DNA and promote the transcription of genes involved in forming body segments, and therefore by mutating JAKs or STATs, flies experience segmentation defects.
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The presence of two distinct genetic substrata in the genes of East-West and South Slavs would conclude that assimilation of indigenous populations by bearers of Slavic languages was a major mechanism of the spread of Slavic languages to the Balkan Peninsula. Southeastern Europeans share large numbers of common ancestors that date roughly to the times of the Slavic expansion around 1,500 years ago. The eastern European populations with high rates of (IBD) are highly coincident with the modern distribution of Slavic languages including Hungary, Romania, Greece and Albania, so it is speculated for Slavic expansion, anyway it was concluded that additional work and methods would be needed to verify this hypothesis. This study detects a considerable connection between Bulgarians and North Slavs that is the result of migrations no earlier than 1500 years ago.
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Because of the severe health effects, many individuals with pyruvate dehydrogenase deficiency do not survive past childhood, although some may live into adolescence or adulthood. Most cases of pyruvate dehydrogenase complex (PDHc) deficiency are attributable to mutations in the PDHA1 gene which encodes the E(1)α subunit, with few cases of mutations in the genes for E3, E3BP, and E2 being described. However, there are a few cases in which mutations in the beta subunit gene have resulted in patients with Leigh syndrome. Many pathological mutations have been described, including: R36C, which results in conformational change due to increased amino acid interactions; C306R, overall affecting interaction of the two beta subunits; I142M, affecting conformation around a potassium ion, thereby reducing PDHB stability; W165S, which also affects hydrophobic interaction between the beta subunits; and Y132C.
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Genetic experiments such as gene knockout (KO), which consist in modifying or inactivating a gene, can be carried out in order to see the effects of a dysfunctional SMAD 4 on the study organism. Experiments are often conducted in the house mouse (Mus musculus). It has been shown that, in mouse KO of SMAD4, the granulosa cells, which secrete hormones and growth factors during the oocyte development, undergo premature luteinization and express lower levels of follicle-stimulating hormone receptors (FSHR) and higher levels of luteinizing hormone receptors (LHR). This may be due in part to impairment of bone morphogenetic protein-7 effects as BMP-7 uses the SMAD4 signaling pathway. Deletions in the genes coding for SMAD1 and SMAD5 have also been linked to metastasic granulosa cell tumors in mice.
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The tester strains also carry mutations in the genes responsible for lipopolysaccharide synthesis, making the cell wall of the bacteria more permeable, and in the excision repair system to make the test more sensitive. Larger organisms like mammals have metabolic processes that could potentially turn a chemical considered not mutagenic into one that is or one that is considered mutagenic into one that is not. Therefore, to more effectively test a chemical compound's mutagenicity in relation to larger organisms, rat liver enzymes can be added in an attempt to replicate the metabolic processes' effect on the compound being tested in the Ames Test. Rat liver extract is optionally added to simulate the effect of metabolism, as some compounds, like benzo[a]pyrene, are not mutagenic themselves but their metabolic products are.
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Chloride ion channels vary from many other ion channels due to being controlled by the anionic chloride ions. Chloride ion channels are pore- forming membrane proteins that allow the passive transport of chloride ions across biological membranes. Chloride ion channels involve both voltage-gated and ligand-gated mechanisms to transport the ions across cellular membranes. Chloride ion channels have been found to play crucial roles in the development of human diseases, for example, mutations in the genes encoding chloride ion channels lead to a variety of deleterious diseases in muscle, kidney, bone, and brain, including cystic fibrosis, osteoporosis, and epilepsy, and similarly their activation is supposed to be responsible for the progression of glioma in the brain and the growth of malaria-parasite in the red blood cells.
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Karmiloff-Smith argued that these approaches assume a "mosaic-like" approach to cognitive development - according to which different systems within the brain develop separately from each other, based purely on information coded in the genes. The real picture of development is, she argued, much more complicated (see Interactive Specialization). Development comes about as a result of back-propagating interactions between gene, brain, behavior, and the environment; "modules" (those parts of the brain that are, for example, specialized at processing language) appear relatively late in development. Since developmental disorders arise from problems during development (as opposed to damage to a mature system) it follows that we should expect to find performance deficits that are not linked to one particular domain, but rather spread across a whole range of different performance impairments.
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To propagate from cell to cell, Shigella bacteria develop actin-polymer 'tails', which propel the microbes and allow them to gain entry into neighbouring host cells. As part of the immune response, human cells produce a cell-signalling protein called TNF-α which trigger thick bundles of septin filaments to encircle the microbes within the infected host cell. Microbes that become trapped in these septin cages are broken down by autophagy. Disruptions in septins and mutations in the genes that code for them could be involved in causing leukaemia, colon cancer and neurodegenerative conditions such as Parkinson's disease and Alzheimer's disease. Potential therapies for these, as well as for bacterial conditions such as dysentery caused by Shigella, might bolster the body’s immune system with drugs that mimic the behaviour of TNF-α and allow the septin cages to proliferate.
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Work on seryl-tRNA synthetase (SerRS) demonstrated for the first time that an appended domain dispensable for enzymatic activity of SerRS can be essential for the development of vertebrates. Demonstration of these broader physiological roles embedded in the genes of human aminoacyl tRNA synthetases has caused a paradigm shift in the field of human genetics and has led to new avenues for therapeutic approaches to treat a wide variety of human diseases such as inflammatory disease, autoimmune disease, cancer and neurological disorders. In 2005, Schimmel and Yang founded aTyr Pharma, a biotechnology company pursuing tRNA synthetase derived molecules, for therapeutic applications. The Yang lab has unveiled broad regulatory roles of tRNA synthetases in vascular biology, the circulatory system, stress response, and proteostasis and provided in-depth mechanistic understanding of these non- canonical functions at the levels of whole organisms, cells, and molecules.
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Bill McGinnis quickly discovered homeotic gene sequences, homeoboxes, in animals in other phyla, in vertebrates such as frogs, birds, and mammals; they were later also found in fungi such as yeasts, and in plants. There were evidently strong similarities in the genes that controlled development across all the eukaryotes. In 1980, Christiane Nüsslein-Volhard and Eric Wieschaus described gap genes which help to create the segmentation pattern in fruit fly embryos; they and Lewis won a Nobel Prize for their work in 1995. Later, more specific similarities were discovered: for example, the Distal-less gene was found in 1989 to be involved in the development of appendages or limbs in fruit flies, the fins of fish, the wings of chickens, the parapodia of marine annelid worms, the ampullae and siphons of tunicates, and the tube feet of sea urchins.
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Additionally, although physical signs of chronic liver dysfunction may not be present, many people suffer liver impairment leading to liver failure. In MDDS associated with mutations in PEO1/C10orf2 that primarily affect the brain and the liver, symptoms emerge shortly after birth or in early infancy, with hypotonia, symptoms of lactic acidosis, enlarged liver, feeding problems, lack of growth, and delay of psychomotor skills. Neurologically, development is slowed or stopped, and epilepsy emerges, as do sensory problems like loss of eye control and deafness, and neuromuscular problems like a lack of reflexes, muscular atrophy, and twitching, and epilepsy. In MDDS associated with mutations in the genes associated with mutations in ECGF1/TYMP that primarily affects the brain and the gastrointestinal tract, symptoms can emerge any time in the first fifty years of life; most often they emerge before the person turns 20.
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Nativism is sometimes perceived as being too vague to be falsifiable, as there is no fixed definition of when an ability is supposed to be judged "innate". (As Jeffrey Elman and colleagues pointed out in Rethinking Innateness, it is unclear exactly how the supposedly innate information might actually be coded for in the genes.) Further, modern nativist theory makes little in the way of specific testable (and falsifiable) predictions, and has been compared by some empiricists to a pseudoscience or nefarious brand of "psychological creationism". As influential psychologist Henry L. Roediger III remarked that "Chomsky was and is a rationalist; he had no uses for experimental analyses or data of any sort that pertained to language, and even experimental psycholinguistics was and is of little interest to him". Some researchers argue that the premises of linguistic nativism were motivated by outdated considerations and need reconsidering.
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Similar results are observed in mosquitoes of the genus Culex, but the differences are seen between reciprocal crosses, from which it is concluded that the same effect occurs in the interaction between the genes of the cell nucleus (inherited from both parents) as occurs in the genes of the cytoplasmic organelles which are inherited solely from the female progenitor through the cytoplasm of the ovule. In Angiosperms, the successful development of the embryo depends on the normal functioning of its endosperm. The failure of endosperm development and its subsequent abortion has been observed in many interploidal crosses (that is, those between populations with a particular degree of intra or interspecific ploidy), and in certain crosses in species with the same level of ploidy. The collapse of the endosperm, and the subsequent abortion of the hybrid embryo is one of the most common post-fertilization reproductive isolation mechanism found in angiosperms.
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A molecular biologist, Anne Dejean-Assémat investigates the mechanisms, at the genetic, epigenetic and cellular levels, responsible for the development of human cancers. Anne Dejean-Assémat and her collaborators have made important advances in understanding the origin of certain cancers and have opened up unique perspectives for new differentiation and targeted therapy leads. She discovered mutations in the genes encoding the receptors for retinoic acid, the active derivative of vitamin A, in liver cancer and some types of leukemia and dissected the molecular mechanisms underlying their role in oncogenesis and treatment sensitivity. Her main contributions are the first demonstration of a direct role for the hepatitis B virus in human liver cancer as an insertional mutagen, the discovery of a gene encoding a retinoic acid receptor at a hepatitis B virus integration site and the molecular cloning of the PML-RAR oncoprotein responsible for acute promyelocytic leukemia.
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