• sequences
  • The presence of trinucleotide repeats (microsatellites), also known as tandem repeat sequences, that are responsible for the development of diseases was identified as a novel type of mutation in the early 1990s [ 6. Krzyzosiak WJ, Sobczak K, Wojciechowska M, Fiszer A, Mykowska A, Kozlowski P. Triplet repeat RNA structure and its role as pathogenic agent and therapeutic target. Nucleic Acids Res. 2012; 40: 11-26. [ CrossRef ] ">6 ]. (lidsen.com)
  • With a primary focus on humans, it is the aim of this review to present an up to date discussion, both of the biological aspects and scientific uses of microsatellite sequences. (bmj.com)
  • Of the remaining 70%, about four fifths comprises sequences that appear to be unique or repeated only rarely (fig 1). (bmj.com)
  • In addition, particular trinucleotide sequences (e.g. (nclockservice.com)
  • A phylogenetic tree was built based on the sequences of 76 protein-coding genes that are shared by the eleven sequenced representatives of Caryophyllaceae and C. apetalus, and it revealed that C. apetalus and C. quitensis form a clade that is closely related to Silene species and Agrostemma githago . (peerj.com)
  • Calibrating PCR fragment lengths in individual genotypes by using the RefSeq sequence enabled us to infer repeat number in the HGDP-CEPH dataset and to calculate the mean number of repeats (as opposed to the mean PCR fragment length), under the assumption that differences in PCR fragment length reflect differences in the numbers of repeats in the embedded repeat sequences. (biomedcentral.com)
  • Abstract
  • 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)
  • 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)
  • protein-codin
  • There are an estimated 19,000-20,000 human protein-coding genes. (wikipedia.org)
  • The group of 112 unique genes features 73 protein-coding genes, 30 tRNA genes, four rRNA genes and five conserved chloroplast open reading frames (ORFs). (peerj.com)
  • Information regarding non-protein coding genes as well as regulatory regions has thrown up several new areas of research. (scribd.com)
  • Overexpression
  • 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)
  • adjacent
  • Interestingly, 5% of the single base pair substitutions might represent double-slippage events that occurred at the junction of immediately adjacent repeats, resulting in a shift in the repeat boundary. (g3journal.org)
  • repetitive
  • A microsatellite is a tract of repetitive DNA in which certain DNA motifs (ranging in length from 1-6 or more base pairs) are repeated, typically 5-50 times. (wikipedia.org)
  • 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)
  • diseases
  • 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)
  • 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)
  • synthesis
  • 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)
  • 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)
  • Telomerase utilizes a portion of its RNA component as a template for the synthesis of telomeric repeats. (biomedcentral.com)
  • 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)
  • human
  • Although the first microsatellite was characterised in 1984 at the University of Leicester by Weller, Jeffreys and colleagues as a polymorphic GGAT repeat in the human myoglobin gene, the term "microsatellite" was introduced later, in 1989, by Litt and Luty. (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)
  • study of ancient expansion, contraction, demographic and migration, analysis of possible racial and human evolutionary history. (blogspot.com)
  • disorders
  • Some of these strategies have the potential for future use in gene therapy for trinucleotide repeat disorders. (lidsen.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)
  • greatly
  • 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)
  • approaches
  • 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)
  • different
  • CRM1TR and CRM4TR are novel tandem repeats that we show to be entirely derived from CR elements belonging to two different subfamilies, CRM1 and CRM4. (biomedcentral.com)
  • The 5' ends of the monomer repeat units of CRM1TR and CRM4TR map to different locations within their respective LTRs, while their 3' ends map to the same relative position within a conserved region of their UTRs. (biomedcentral.com)
  • Expression was inconsistent between different genes and among cell lines, ranging from a 2 to 300-fold increase compared to a control. (ubc.ca)
  • length
  • A PCR fragment length represents the size of the region between the distal ends of a DNA primer pair, with changes in the number of repeats of the microsatellite embedded between the primer pair leading to corresponding changes in PCR fragment length. (biomedcentral.com)
  • 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)