• genetic
  • Although the transfer of a number of genes from these organelles to the nucleus prevents them from living independently, each still possesses genetic material in the form of double stranded DNA. (wikipedia.org)
  • Trinucleotide repeat disorders (also known as trinucleotide repeat expansion disorders, triplet repeat expansion disorders or codon reiteration disorders) are a set of genetic disorders caused by trinucleotide repeat expansion, a kind of mutation where trinucleotide repeats in certain genes or introns exceed the normal, stable threshold, which differs per gene. (wikipedia.org)
  • citation needed] Trinucleotide repeat disorders generally show genetic anticipation, where their severity increases with each successive generation that inherits them. (wikipedia.org)
  • They have a higher mutation rate than other areas of DNA leading to high genetic diversity. (wikipedia.org)
  • They are also used in genetic linkage analysis to locate a gene or a mutation responsible for a given trait or disease. (wikipedia.org)
  • The increasing availability of DNA amplification by PCR at the beginning of the 1990s triggered a large number of studies using the amplification of microsatellites as genetic markers for forensic medicine, for paternity testing, and for positional cloning to find the gene underlying a trait or disease. (wikipedia.org)
  • Overall, our study provides a comprehensive information on cell wall related genes families in sorghum which offers a valuable resource to develop strategies for altering biomass composition by plant breeding and genetic engineering approaches. (frontiersin.org)
  • A recent handful of studies have shown, however, that SSRs in different positions of a gene can play important roles in determining protein function, genetic development, and regulation of gene expression. (biomedcentral.com)
  • however, they are extremely useful in such fields as forensic DNA profiling and genetic linkage analysis, which can be used to search for genes involved in a wide range of disorders. (bmj.com)
  • However, when used to refer to the number of repeating units of genetic information that are sufficient to encode the blueprint for something as complex as a human being, it never ceases to amaze me that this number is big enough! (bmj.com)
  • The neutral theory of molecular evolution posits a linear relationship between these two rates, but whereas mutation is a biochemical/genetic process, molecular evolution refers to the fixation of new alleles in populations [2, (nclockservice.com)
  • Intrapopulation level it aims to establish family relationships among individuals who have appeared buried together, the determination of social rank and reconstruction of the social organization of ancient populations, as well as Genetic characterization of populations that can generate mutations diseases. (blogspot.com)
  • This discrepancy might be explained by the fact that a large share of STR variation derived within a haplogroup is being effectively removed by genetic drift, rendering mutation rate estimates based on evolutionary considerations 3 or more times lower than those based on pedigree studies . (blogspot.com)
  • Our findings suggest that Y chromosome STRs of increased repeat unit size have a lower rate of evolution, which has significant relevance in population genetic and evolutionary studies. (blogspot.com)
  • Thus
  • Thus, the phenotype of traits linked to genes found in either chloroplasts or mitochondria are determined exclusively by the maternal parent. (wikipedia.org)
  • The Mre11 complex thus appears to be directly involved in removing CAG or CTG hairpins that arise frequently during DNA synthesis accompanying gene conversion of these trinucleotide repeats. (embopress.org)
  • Thus, when mutation rates are expressed per average base pair, they also vary by a similarly large factor. (nclockservice.com)
  • Thus the AR activates these genes to mediate the effects of androgens in the human body, including the development and maintenance of the male sexual phenotype and generalized anabolic effects. (wikipedia.org)
  • Thus, STR markers with longer repeat units are more robust in distinguishing Y chromosome haplogroups and, in some cases, phylogenetic splits within established haplogroups. (blogspot.com)
  • disorders
  • These disorders are characterized by autosomal-dominant mode of inheritance (with the exception of spino-bulbar muscular atrophy, which shows X-linked inheritance), midlife onset, a progressive course, and a correlation of the number of CAG repeats with the severity of disease and the age at onset. (wikipedia.org)
  • citation needed] At present there are 14 documented trinucleotide repeat disorders that affect humans. (wikipedia.org)
  • Some of these strategies have the potential for future use in gene therapy for trinucleotide repeat disorders. (lidsen.com)
  • TRS disorders typically have large and variable repeat expansions that result in multiple tissue dysfunction or degeneration. (cancer-basics.com)
  • Given the common etiology underlying these varied disorders, for some time it had been a mystery to scientists how glutamine expansion tracts could prove toxic. (scienceoveracuppa.com)
  • Such inclusions are associated with toxicity in some of the trinucleotide repeat disorders. (scienceoveracuppa.com)
  • All of these disorders have reported somatic mosaicism within the mutated genes, such that different extremes of expansion are seen in different organ systems. (scienceoveracuppa.com)
  • intron
  • In breast cancer, a dinucleotide CA-repeat within the first intron of the epidermal growth factor receptor ( EGFR ) gene correlates with the gene's transcription levels. (biomedcentral.com)
  • If the repeat is present in an intron it can cause toxic effects by forming spherical clusters called RNA foci in cell nuclei. (wikipedia.org)
  • Protein
  • Most (though probably not all) genes have been identified by a combination of high throughput experimental and bioinformatics approaches, yet much work still needs to be done to further elucidate the biological functions of their protein and RNA products. (wikipedia.org)
  • There are an estimated 19,000-20,000 human protein-coding genes. (wikipedia.org)
  • Researchers at the University of Pennsylvania demonstrated that in fruit flies, a protein previously known to bind CUG repeats (muscleblind, or mbl) is also capable of binding CAG repeats. (wikipedia.org)
  • The human androgen receptor (AR) is a protein encoded by a gene located on the proximal long arm of the X chromosome (locus Xq11-Xq12). (wikipedia.org)
  • missense
  • Nonsense, frame shift, and missense mutations can give rise to viral TK deficiency (Pillay, 1998). (nclockservice.com)
  • We performed mutation accumulation assays and next generation sequencing on 19 strains, including 16 msh2 missense variants implicated in Lynch cancer syndrome. (g3journal.org)
  • humans
  • Nevertheless, even focusing as intended upon microsatellites and their relevance to humans, it should become clear that most of these questions remain ones that will require consideration, even if only in passing. (bmj.com)
  • codon
  • The frameshift mutation will also alter the first stop codon ("UAA", "UGA" or "UAG") encountered in the sequence. (wikipedia.org)
  • amino
  • We have found that the gain of novel LCRs is frequently associated with repeat expansion whereas the loss of LCRs is more often due to accumulation of amino acid substitutions as opposed to deletions. (biomedsearch.com)
  • A study by Negoro et al (2006) found that a frameshift mutation was unlikely to have been the cause and that rather a two amino acid substitution in the active site of an ancestral esterase resulted in nylonase. (wikipedia.org)
  • This offsets the effect of the original mutation by creating a secondary mutation, shifting the sequence to allow for the correct amino acids to be read. (wikipedia.org)
  • short
  • Here we focus on a class of very short tandem repeats and their contribution to disease risk. (biomedcentral.com)
  • There are several families of interspersed repetitive DNA, although the two largest are known as short and long interspersed nuclear elements (SINEs and LINEs, respectively), 1 and it is to the SINE family that the frequently mentioned Alu repeat belongs. (bmj.com)
  • transcription
  • We record that repeats possess the to hinder the binding of transcription elements with their consensus series by changed DNA inhaling and exhaling dynamics in closeness from the binding sites. (cancer-basics.com)
  • This combination functions as a transcription complex to turn on androgen gene expression. (wikipedia.org)
  • variation
  • Exonic structural variation may have a direct influence on gene products, and hence of interest for e.g. resequencing studies. (biomedcentral.com)
  • significantly
  • Overexpression of Mre11p or Rad50p suppresses the inhibition of DSB repair by CAG 98 and significantly increases the average size of expansions found at the recipient locus. (embopress.org)
  • The mean microsatellite mutation rate of the [TTCC/AAGG]9 allele did not differ significantly from that for a [TC/AG]11 allele, demonstrating that these tetranucleotide and dinucleotide alleles are of equivalent stability. (nclockservice.com)
  • secondary
  • These data indicate that repair‐ associated DNA synthesis is inhibited by secondary structures formed by CAG 98 and that these structures promote repeat expansions during DSB repair. (embopress.org)
  • PolyQ
  • Furthermore, when the CAG repeat was changed to a repeating series of CAACAG (which also translates to polyQ), toxicity was dramatically reduced. (wikipedia.org)
  • defective
  • If the repeat is present in a healthy gene, a dynamic mutation may increase the repeat count and result in a defective gene. (wikipedia.org)
  • The androgen receptor (AR), which is defective due to a mutation in most of these syndromes, is a type of nuclear receptor that is activated by binding to either of the androgenic hormones (testosterone or dihydrotestosterone) in the cytoplasm, and then translocates into the nucleus where it binds to DNA, provided androgen response elements and coactivators are present. (wikipedia.org)
  • locus
  • the mutation rate for an average Y chromosome tri- or tetranucleotide STR locus has been estimated as 6.9×10−4 per 25 years . (blogspot.com)
  • Coalescence age estimates, based on penta/hexanucleotide and tri/tetranucleotide repeats and the respective mutation rates, and ancestral haplotypes (estimated as the weighted median number of repeats at each locus) of Y chromosome haplogroups. (blogspot.com)
  • repetitive
  • The residual fifth is moderately to highly repetitive, and can be divided into two types, depending on whether the individual repeat units are dispersed singularly (interspersed repetitive DNA) or clustered together (satellite DNA). (bmj.com)
  • phenotypically
  • Cases of phenotypically normal males with isolated spermatogenic defect due to AR mutation were first detected as the result of male infertility evaluations. (wikipedia.org)