• methylation
  • Markers of an X reactivation event were examined: X gene dosage, expression, and methylation in 8 ovarian cancer cell lines. (ubc.ca)
  • Methylation was lower than expected for 7 of 8 ovarian cancer cell lines at AR or FMR1, while three cell lines had low or no methylation for both genes. (ubc.ca)
  • Determination of DNA Methylation of Imprinted Genes in Arabidopsis Endosperm Matthew Rea 1 , Ming Chen 1 , Shan Luan 1 , Drutdaman Bhangu 1 , Max Braud 1 , Wenyan Xiao 1 1 Department of Biology, Saint Louis University Imprinting is a phenomenon in plant and mammal reproduction. (jove.com)
  • Isolating endosperm and determining methylation status of imprinted genes in Arabidopsis can be difficult. (jove.com)
  • overexpression
  • 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)
  • Skewed somatic X inactivation (XCI), X-linked gene overexpression and abnormal X content have been associated with breast and ovarian cancer. (ubc.ca)
  • 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)
  • 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)
  • 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)
  • 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)
  • Simple sequence repeats (SSRs) in DNA have been traditionally thought of as functionally unimportant and have been studied mainly as genetic markers. (biomedcentral.com)
  • Especially notable is the much higher density of SSRs in 5'UTRs compared to the other regions and a strong affinity towards trinucleotide repeats in these regions for both rice and Arabidopsis . (biomedcentral.com)
  • However, recent research has shown that SSRs have many important functions in terms of development, gene regulation, and evolution. (biomedcentral.com)
  • Most recently, Fondon and Garner [ 3 ] have shown that the fast morphological evolution in domesticated dogs is due to the contraction/expansion of SSRs in the coding regions of the Alx-4 and Runx-2 genes. (biomedcentral.com)
  • 12 ] did a more comprehensive survey of SSRs in Arabidopsis and showed that SSRs in general were more favored in upstream regions of genes and that trinucleotide repeats were the most common repeats found in the coding regions. (biomedcentral.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)
  • citation needed] Trinucleotide repeat disorders generally show genetic anticipation, where their severity increases with each successive generation that inherits them. (wikipedia.org)
  • Some of these strategies have the potential for future use in gene therapy for trinucleotide repeat disorders. (lidsen.com)
  • 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)
  • Most inherited diseases are rare, but taken together, the more than 6,000 disorders known to result from single altered genes rob millions of healthy and productive lives. (scribd.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)
  • disease
  • 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)
  • We also demonstrate that STRs are significantly overrepresented in disease-related genes in both human and mouse. (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)
  • Here we focus on a class of very short tandem repeats and their contribution to disease risk. (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)
  • But identifying a gene allows scientists to study its structure and characterize the molecula r alterations, or mutations, that result in disease. (scribd.com)
  • 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)
  • variation
  • Exonic structural variation may have a direct influence on gene products, and hence of interest for e.g. resequencing studies. (biomedcentral.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)
  • human
  • 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)
  • 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)
  • It appeared that 92.23% of all known human genes have STRs in their exons and 99% of STR regions are shorter than 33 bp. (biomedcentral.com)
  • The human genome sequence has revealed several novel/surprising features notably the probable presence of a mere 30-35,000 genes. (scribd.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)
  • severity
  • The increase in the number of repeats over time leads to earlier development and increased severity of symptoms in affected individuals in successive generations. (lidsen.com)
  • length
  • In addition, STRs constitute an obvious target when screening for rare mutations, because of the relatively low amount of STRs in exons (1,973,844 bp) and the limited length of STR regions. (biomedcentral.com)
  • The complete cp genome of C. apetalus has the length of 151,228 bp, 36.65% GC content, and a quadripartite structure with a large single copy (LSC) of 83,380 bp and a small single copy (SSC) of 17,206 bp separated by inverted repeats (IRs) of 25,321 bp. (peerj.com)
  • expression
  • Expression levels of 8 X-linked genes were assessed by real-time PCR. (ubc.ca)
  • Overall, expression was greatly increased for genes subject to inactivation but not increased in genes that escape inactivation for most ovarian cancer cell lines. (ubc.ca)