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  • alleles
  • specifically, the length differences observed between microsatellite alleles are generally multiples of the repeat unit length. (wikipedia.org)
  • (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)
  • 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)
  • 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)
  • 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)
  • disorder
  • Expanded SCA1 and CAG repeats were found to cosegregate with the disorder in six of the families tested and were also observed in one sporadic individual with a negative family history of SCA. (springer.com)
  • The present invention is directed to methods of detecting the presence of a bipolar mood disorder susceptibility locus in an individual, comprising analyzing a sample of DNA for the presence of a DNA polymorphism on the long arm of chromosome 18 between markers D18S469 and D18S554, wherein the DNA polymorphism is associated with a form of bipolar mood disorder. (google.com)
  • The invention for the first time provides strong evidence of a susceptibility gene for bipolar mood disorder that is located in the 18q22-q23 region of the long arm of chromosome 18. (google.com)
  • The first trinucleotide repeat disorder to be identified was Fragile X syndrome , a condition which frequently exhibits co-occurring autism and is usually due to an expansion of trinucleotide CGG repeats which ultimately promotes hypermethylation and reduced gene expression . (scienceoveracuppa.com)
  • DM is a multisystemic disorder caused by two different microsatellite expansions. (embopress.org)
  • Occasional families may exist in which a single gene plays the major role in determining susceptibility, but the majority of bipolar disorder involves the interaction of multiple genes (epistasis) or more complex genetic mechanisms (such as dynamic mutation or imprinting). (bmj.com)
  • Molecular genetic positional and candidate gene approaches are being used for the genetic dissection of bipolar disorder. (bmj.com)
  • To date most candidate gene studies have focused on neurotransmitter systems influenced by medication used in clinical management of the disorder but no robust positive findings have yet emerged. (bmj.com)
  • DMPK
  • DM arises from the expansion of two similar non-coding microsatellites in the DMPK and CNBP genes which have been proposed to cause disease through a common mechanism, a toxic RNA gain-of-function which can either inhibit or activate specific proteins. (ufl.edu)
  • triplet
  • The first triplet disease to be identified was fragile X syndrome, which has since been mapped to the long arm of the X chromosome. (wikipedia.org)
  • The second, related DNA-triplet repeat disease, fragile X-E syndrome, was also identified on the X chromosome, but was found to be the result of an expanded CGG repeat. (wikipedia.org)
  • Due to the triplet nature of gene expression by codons, the insertion or deletion can change the reading frame (the grouping of the codons), resulting in a completely different translation from the original. (wikipedia.org)
  • muscleblind
  • 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)
  • One of these candidates, the muscleblind-like (MBNL) family of proteins encoded by three genes, MBNL1, MBNL2, and MBNL3, are sequestered into discrete nuclear foci by RNA repeat expansions, preventing interactions with endogenous RNA targets and compromising their activity. (ufl.edu)
  • specific genes
  • 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)
  • This and additional evidence supports the hypothesis that loss of MBNL1 function in DM causes defects in the alternative splicing of specific genes during postnatal development which leads to distinct pathological features in adult-onset disease, including myotonia and insulin insensitivity. (ufl.edu)
  • mediate
  • The mechanism by which trinucleotide secondary structures mediate expansions is not well understood. (embopress.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)
  • diseases
  • Identifying trinucleotide repeats as the basis of disease has brought clarity to our understanding of a complex set of inherited neurological diseases. (wikipedia.org)
  • As more repeat expansion diseases have been discovered, several categories have been established to group them based upon similar characteristics. (wikipedia.org)
  • These diseases are characterized by typically much larger repeat expansions than the first two groups, and the repeats are located outside of the protein-coding regions of the genes. (wikipedia.org)
  • 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)
  • These microsatellite repeats, particularly trinucleotide repeats, have been indicated in a number of diseases, especially relating to the central nervous system. (scienceoveracuppa.com)
  • Although the presence of these subtle mechanisms may be beneficial to a whole population, when they go wrong, as is thought to happen in the case of human trinucleotide repeat associated diseases, such as Huntington's disease, the consequences for the individual can be fatal. (bmj.com)
  • STRs
  • We also demonstrate that STRs are significantly overrepresented in disease-related genes in both human and mouse. (biomedcentral.com)
  • introns
  • 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). (wn.com)
  • 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)
  • 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)
  • 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)
  • 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)
  • intron
  • 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 . (wn.com)
  • The word intron is derived from the term intragenic region , i.e. a region inside a gene. (wn.com)
  • Mahadevan et al , 1992 ), while type 2 (DM2) is caused by a CCTG expansion in intron 1 of the ZNF9 gene on chromosome 3 ( Liquori et al , 2001 ). (embopress.org)
  • 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)
  • phenotype
  • Thus, the phenotype of traits linked to genes found in either chloroplasts or mitochondria are determined exclusively by the maternal parent. (wikipedia.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)
  • consist
  • 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)
  • 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)
  • Recent studies have provided epidemiological evidence in support of a possible prostate cancer susceptibility locus on the X chromosome. (aacrjournals.org)
  • 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)
  • 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)
  • base pairs
  • Four divergent domains consisted of microsatellite repeats biased in composition with purines on one strand and pyrimidines on the other, including mononucleotide repeats of C:G base pairs approximately 20 bp in length. (wikipedia.org)
  • AT in ATATATATAT) is repeated at least three times, (3) there are only few base pairs that do not match the periodic motif (see Methods). (biomedcentral.com)
  • 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
  • Overall, these results demonstrate that MBNL1 is an alternative splicing factor that regulates gene expression during postnatal life while MBNL3 expression is essential for normal myogenic differentiation in vitro and possibly in vivo. (ufl.edu)
  • encodes
  • The FMR1 gene encodes the Fragile X Mental Retardation Protein (FMRP) which is thought to be involved in regulating protein synthesis. (brainscape.com)
  • short
  • For example, minisatellite DNA is a short region (1-5kb) of 20-50 repeats. (wikipedia.org)
  • 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)
  • In this latter study, short AR CAG repeat lengths predisposed to higher histological grade and more advanced stage prostate cancer. (aacrjournals.org)
  • Mbnl
  • Our working hypothesis is that MBNL genes show distinct temporal and spatial expression patterns that influence age-of-onset and disease-associated pathological changes. (ufl.edu)
  • We conclude that Mbnl3 null lines must be created to determine if expression of this Mbnl gene is essential for normal embryonic muscle development. (ufl.edu)
  • 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)
  • 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)
  • 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)
  • 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)
  • findings
  • No gene has yet been identified but promising findings are emerging. (bmj.com)
  • Chromosome 18 is also of interest but the findings are confusing with up to three possible regions implicated. (bmj.com)
  • 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)