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  • 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)
  • 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)
  • codons
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • short
  • For example, minisatellite DNA is a short region (1-5kb) of 20-50 repeats. (wikipedia.org)
  • 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)
  • 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)
  • disease
  • 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)
  • 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)
  • In particular, we test whether they share the hypermutability of the longer tandem repeats and whether disease-related genes have a higher STR content than non-disease-related genes. (biomedcentral.com)
  • Thirty-four percent of FECD subjects and 5% of control individuals harbor more than 50 trinucleotide repeats, which was considered as the disease threshold. (arvojournals.org)
  • 4 , 5 So far, many genes have been attributed to cause this disease, thereby revealing its genetic complexity. (arvojournals.org)
  • Transcription factor 4 ( TCF4 ), that encodes for E2-2 protein, a group of E protein transcription factors known for cellular growth and differentiation, is one such gene that has been associated with this disease. (arvojournals.org)
  • human
  • There are an estimated 19,000-20,000 human protein-coding genes. (wikipedia.org)
  • The human homolog of mbl, MBNL1, which was originally identified as binding CUG repeats in RNA, has since been shown to bind CAG (and CCG) repeats as well. (wikipedia.org)
  • 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)
  • found
  • 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)
  • The expression of fragility was found to be influenced by the TRS enlargement beyond a threshold of copies in tandem. (cancer-basics.com)
  • SSRs
  • Simple sequence repeats (SSRs) are widely used as molecular markers in maize genetics and breeding, but only two thousands pairs of SSRs have been published currently, which hardly satisfies for the increasing needs of geneticists and breeders. (biomedcentral.com)
  • myoglobin
  • Molecular characterization, phylogenetic analysis and expression profiling of myoglobin and cytoglobin genes in response to heat stress in channel catfish Ictalurus punctatus. (auburn.edu)
  • deletions
  • A bias toward deletions at homopolymers and insertions at (AT) n microsatellites suggests a different mechanism for mismatch generation at these sites. (g3journal.org)
  • The telomeric repeat insertion occurred either without modification of the sequence at the break site or with processing of the ends produced by the break involving deletions, insertions or target site duplications [ 17 ] (Additional data file 1). (biomedcentral.com)
  • Genes enriched for copy number variations (deletions and duplications) and nucleotide polymorphism were involved in oxidation-reduction processes and encoding domains relevant to transcription factors. (beds.ac.uk)
  • 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)
  • genome-wide
  • A genome-wide association study in catfish reveals the presence of functional hubs of related genes within QTLs for columnaris disease resistance. (auburn.edu)
  • Some secreted protein coding genes based on the genome-wide selection pressure, or the presence of variants were proposed as potential virulence candidates. (beds.ac.uk)
  • unstable
  • Three, single nucleotide polymorphisms (SNPs) spanning the third intronic region of TCF4 (rs613872, rs17089887, and rs17089925) and an unstable trinucleotide repeat CTG18.1 allele were genotyped by direct sequencing using Sanger's method. (arvojournals.org)
  • Since the early 1990s, a new class of molecular disease has been characterized based upon the presence of unstable and abnormal expansions of DNA-triplets (trinucleotides). (wikipedia.org)
  • chromosomal
  • In fact "functional DNA", consisting of transcribed genes and regions involved either in transcriptional regulation or in maintaining chromosomal structure/integrity, is thought to comprise less than a sixth of the total human genome. (bmj.com)
  • genomic
  • Reads mapping coverage analysis enabled the classification of all predicted genes into five groups and uncovered two genomic regions exclusively present in the reference with putative contribution to its higher virulence. (beds.ac.uk)
  • Comparative genomics analysis gave insight into the overall genomic variation among this fungal species and also facilitated the identification of several secreted protein coding genes as putative virulence factors for the further functional analysis. (beds.ac.uk)
  • abnormal
  • Skewed somatic X inactivation (XCI), X-linked gene overexpression and abnormal X content have been associated with breast and ovarian cancer. (ubc.ca)
  • Queen's University, 2003 A THESIS SUBMITTED IN PARTIAL FULFILLMENT OF THE REQUIREMENTS FOR THE DEGREE OF MASTER OF SCIENCE in THE FACULTY OF GRADUATE STUDIES (Medical Genetics) THE UNIVERSITY OF BRITISH COLUMBIA November 2007  Sara Helen Alison Harbord, 2007 ii Abstract Skewed somatic X inactivation (XCI), X-linked gene overexpression and abnormal X content have been associated with breast and ovarian cancer. (ubc.ca)
  • Markers
  • Markers of an X reactivation event were examined: X gene dosage, expression, and methylation in 8 ovarian cancer cell lines. (ubc.ca)
  • 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)
  • 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 all RU variants examined, tandem repeats of the CGCAC:GTGCG sequence motif were also found adjacent to a C:G mononucleotide repeat within one of the repetitive pyrimidine:purine divergent domains. (wikipedia.org)
  • positional
  • Out of the more than 6000 recorded inherited disorders only 75 were traced back to their genes using positional cloning and other approaches. (scribd.com)
  • overexpression
  • Partial or complete reactivation of the inactive X in females may be a step in breast and ovarian cancer progression, leading to overexpression of some tumour enhancing gene. (ubc.ca)
  • base-pairs
  • 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)
  • 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)
  • Thus
  • Thus, the phenotype of traits linked to genes found in either chloroplasts or mitochondria are determined exclusively by the maternal parent. (wikipedia.org)
  • tumor
  • Expression of tumor suppressor genes in channel catfish after bacterial infections. (auburn.edu)
  • These data suggest a closer scrutiny of tumor suppressors with homopolymeric runs with proximal repeats as the potential drivers of oncogenesis in mismatch repair defective cells. (g3journal.org)
  • disorders
  • 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)
  • The complete sequencing of the human genome will not only fasten the pace of gene discovery in unigene disorders, but more importantly will help in understanding the molecular basis for multigene disorders. (scribd.com)
  • 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)
  • human
  • 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 human genome sequence has revealed several novel/surprising features notably the probable presence of a mere 30-35,000 genes. (scribd.com)
  • downplayed the concerns of scientist critics by emphasizing that there was not one but many genome projects, that these were not on the scale of the Manhattan or Apollo projects, that no agency was committed to massive sequencing, and that the study of other organisms was needed to understand human genes. (stanford.edu)
  • The human homolog of mbl, MBNL1, which was originally identified as binding CUG repeats in RNA, has since been shown to bind CAG (and CCG) repeats as well. (wikipedia.org)
  • maize
  • In maize, centromeric satellite repeat (CentC) and centromeric retrotransposons (CR), a class of Ty3/gypsy retrotransposons, are enriched at centromeres. (biomedcentral.com)
  • Maize centromeres are enriched in the tandem centromeric satellite repeat CentC and centromeric retrotransposons (CR). (biomedcentral.com)