• sequence
  • Gene conversion arises during DNA repair via DNA recombination, by which a piece of DNA sequence information is transferred from one DNA helix (which remains unchanged) to another DNA helix, whose sequence is altered. (wikipedia.org)
  • The estimate of the number of human genes has been repeatedly revised down from initial predictions of 100,000 or more as genome sequence quality and gene finding methods have improved, and could continue to drop further. (wikipedia.org)
  • Basic information about these molecules and their gene content, based on a reference genome that does not represent the sequence of any specific individual, are provided in the following table. (wikipedia.org)
  • Expansions are apparently dependent on the property of the repeat array to form hairpins, since DSB repair of a CAA 87 repeat induces only contractions of the repeat sequence. (embopress.org)
  • A frameshift mutation (also called a framing error or a reading frame shift) is a genetic mutation caused by indels (insertions or deletions) of a number of nucleotides in a DNA sequence that is not divisible by three. (wikipedia.org)
  • The frameshift mutation will also alter the first stop codon ("UAA", "UGA" or "UAG") encountered in the sequence. (wikipedia.org)
  • Reverse mutations occur which change the mutated sequence back to the original wild type sequence. (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)
  • genetic
  • citation needed] Trinucleotide repeat disorders generally show genetic anticipation, where their severity increases with each successive generation that inherits them. (wikipedia.org)
  • 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)
  • 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)
  • genomic
  • These observations might impact ongoing tries to make use of LMD and MCMC simulations for TRS-related modeling of genomic DNA efficiency in elucidating the common denominators of the dynamic TRS expansion mutation with potential therapeutic applications. (cancer-basics.com)
  • phenotype
  • Thus, the phenotype of traits linked to genes found in either chloroplasts or mitochondria are determined exclusively by the maternal parent. (wikipedia.org)
  • 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)
  • androgen receptor
  • The androgen receptor ( AR ) gene, located at Xq11-12, has been implicated as a risk factor for the development of prostate cancer. (aacrjournals.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)
  • no method is currently available to correct the malfunctioning androgen receptor proteins produced by AR gene mutations. (wikipedia.org)
  • chromosomes
  • Although these diseases share the same repeated codon (CAG) and some symptoms, the repeats for the different polyglutamine diseases occur on different chromosomes. (wikipedia.org)
  • These laws describe the inheritance of traits linked to single genes on chromosomes in the nucleus. (wikipedia.org)
  • The telomeres at the ends of the chromosomes, thought to be involved in ageing/senescence, consist of repetitive DNA, with the hexanucleotide repeat motif TTAGGG in vertebrates. (wikipedia.org)
  • A partial duplication in the ASMT gene, located in the pseudoautosomal region 1 (PAR1) of the sex chromosomes and previously suggested to be involved in ASD susceptibility, was observed in 6-7% of the cases but in only 2% of controls (P = 0.003). (biomedcentral.com)
  • STRs
  • We also demonstrate that STRs are significantly overrepresented in disease-related genes in both human and mouse. (biomedcentral.com)
  • These results are preserved when we limit the analysis to STRs outside known longer tandem repeats. (biomedcentral.com)
  • Long intergenic tandem repeats are well known targets for structural variation, and in this study we investigate whether exonic STRs share this property, and hence may serve as a probable target for exonic disease causing mutations. (biomedcentral.com)
  • We found a strong excess of validated indels in STR regions and demonstrated that exonic STRs are likely targets for disease causing mutations by showing that disease-related genes have a significantly higher STR content than non-disease-related genes. (biomedcentral.com)
  • SCA1
  • Three genes, SCA1 on 6p, SCA2 on 12q and MJD1 on 14q, have been isolated for SCA1, SCA2 and Machado-Joseph disease (MJD), respectively. (springer.com)
  • A total of 14 South African kindreds and 22 sporadic individuals with SCA were investigated for the expanded SCA1 and MJD repeats. (springer.com)
  • The use of the microsatellite markers D6S260, D6S89 and D6S274 provided evidence that the expanded SCA1 repeats segregated with three distinct haplotypes in the six families. (springer.com)
  • polyglutamine
  • Although the causative genes are widely expressed in all of the known polyglutamine diseases, each disease displays an extremely selective pattern of neurodegeneration. (wikipedia.org)
  • protein
  • Category I includes Huntington's disease (HD) and the spinocerebellar ataxias that are caused by a CAG repeat expansion in protein-coding portions of specific 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)
  • 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)
  • locus
  • 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 results in PAR1/PAR2 are the first large-scale studies of gene dosage in these regions, and the findings at the ASMT locus indicate that further studies of the duplication of the ASMT gene are needed in order to gain insight into its potential involvement in ASD. (biomedcentral.com)
  • To examine the potential role of the AR locus in prostate cancer susceptibility, the AR CAG repeat length was measured in 270 Caucasian men with prostate cancer from 133 unrelated families. (aacrjournals.org)
  • Once specific hereditary prostate cancer genes have been identified, future studies can more carefully delineate the potential role of this AR polymorphism as a modifier locus in high-risk families. (aacrjournals.org)
  • intron
  • 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)
  • 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)
  • vitro
  • These associations between short AR CAG alleles and prostate cancer may be a consequence of enhanced transactivation function (7 , 8) or increased mRNA levels (9) observed in in vitro experiments using AR genes with fewer CAG repeats. (aacrjournals.org)
  • alleles
  • One individual was found to carry a 12 kb deletion in one copy of the ASPA gene on 17p13, which when mutated in both alleles leads to Canavan disease. (biomedcentral.com)
  • (6) reported an association between prostate cancer and AR alleles with fewer CAG repeats (relative risk, 1.52) using prostate cancer cases and age-matched controls selected from participants in the Physician's Health Study. (aacrjournals.org)
  • We set out to determine whether prostate cancer was linked to the AR gene and whether we could measure an effect of short AR CAG alleles on the occurrence, age of diagnosis, and/or histological grade of prostate cancer in our families. (aacrjournals.org)
  • 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)
  • Thus
  • 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)
  • toxicity
  • citation needed] Recent results suggest that the CAG repeats need not always be translated in order to cause toxicity. (wikipedia.org)
  • mechanism
  • The results are consistent with a mechanism for DM pathogenesis in which expanded repeats cause a loss of MBNL and/or gain of CELF activities, leading to misregulation of alternative splicing of specific pre‐mRNA targets. (embopress.org)
  • deletions
  • 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)
  • found
  • Two subjects showed partial duplication of the TM4SF2 gene on Xp11.4, previously implicated in X-linked non-specific mental retardation, but in our subsequent analyses such variants were also found in controls. (biomedcentral.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)
  • lengths
  • In this latter study, short AR CAG repeat lengths predisposed to higher histological grade and more advanced stage prostate cancer. (aacrjournals.org)
  • traits
  • 4, 10 Hypospadias is also a manifestation in some rare single gene traits affecting sex differentiation, for example, the X linked partial androgen insensitivity syndrome and the recessive 5-alpha-reductase deficiency. (bmj.com)
  • humans
  • This finding illustrates the minor consequences of HOX gene mutations in humans and serves as an example of dominant inheritance of hypospadias. (bmj.com)