• proteins
  • Nucleotide excision repair proteins are mobilized to this area where one likely outcome is the expansion of nucleotides in the template strand while the other is the absence of nucleotides. (wikipedia.org)
  • 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)
  • 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)
  • Microsatellite
  • 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)
  • 1992). A microsatellite is a tract of tandemly repeated (i.e. adjacent) DNA motifs that range in length from one to six or up to ten nucleotides (the exact definition and delineation to the longer minisatellites varies from author to author), and are typically repeated 5-50 times. (wikipedia.org)
  • instability
  • Tandem repeat instability and its effect on cancer phenotypes remain so far poorly studied on a genome-wide scale. (biomedcentral.com)
  • Here we analyze the genomes of 35 colorectal tumors and their matched normal (healthy) tissues for two types of tandem repeat instability, de-novo repeat gain or loss and repeat copy number variation. (biomedcentral.com)
  • Specifically, we study for the first time genome-wide repeat instability in the promoters and exons of 18,439 genes, and examine the association of repeat instability with genome-scale gene expression levels. (biomedcentral.com)
  • Genes in tumor genomes with repeat instability in their promoters are significantly less expressed and show slightly higher levels of methylation. (biomedcentral.com)
  • Our results suggest that repeat instability in gene promoters and associated differential gene expression may play an important role in colorectal tumors, which is a first step towards the development of more effective molecular diagnostic approaches centered on repeat instability. (biomedcentral.com)
  • tract
  • Recombination induced by double‐strand breaks (DSBs) in yeast leads to a higher proportion of expansions to contractions than does replication‐associated tract length changes. (embopress.org)
  • The Poly T tract, a string of thymidine bases located in intron 8 of the CFTR gene, can be associated with CFTR-related disorders depending on its size. (wakehealth.edu)
  • 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)
  • One hypothesis is that the increasing number of repeats influence the overall shape of the DNA, which can have an effect on its interaction with DNA polymerase and thus the expression of the gene. (wikipedia.org)
  • Thus, each gene also has a corresponding homologue, which may exist in different versions called alleles. (wikipedia.org)
  • intronic
  • We tested for an association between an intronic TGC trinucleotide repeat in TCF4 and FECD by determining repeat length in 66 affected participants with severe FECD and 63 participants with normal corneas in a 3-stage discovery/replication/validation study. (jove.com)
  • humans
  • Telomeres are repeating DNA sequences at the tip ends of the chromosomes that are diverse in length and in humans can reach a length of 15,000 base pairs. (jove.com)
  • This elongation is variable in length, with as few as 6 and as many as 81 repeats reported in humans. (wikipedia.org)
  • Most vertebrates have two orthologs of the gene (called ATXN2 and ATXN2L in humans), with the exception of birds which only have one. (wikipedia.org)
  • several genes
  • It appears to be involved in regulating gene expression based on its location in the nucleus of the cell, its association with promoter regions of several genes, and its interactions with transcriptional regulators and parts of the RNA splicing machinery. (wikipedia.org)
  • polymerase
  • Slippage occurs through five main stages: In the first step, DNA polymerase encounters the direct repeat during the replication process. (wikipedia.org)
  • DNA polymerase reassembles its position on the template strand and resumes normal replication, but during the course of reassembling, the polymerase complex backtracks and repeats the insertion of deoxyribonucleotides that were previously added. (wikipedia.org)
  • sequences
  • Iyer, R. R. and Wells, R. D. (1999) Expansion and deletion of triplet repeat sequences in Escherichia coli occur on the leading strand of DNA. (springer.com)
  • In contrast, elongation is partially modulated by the enzyme telomerase, which adds repeating sequences to the ends of the chromosomes. (jove.com)
  • motif
  • 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)
  • increases
  • 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)
  • mutant
  • In DM1, mutant transcripts detach from the gene but accumulate in granules that abut but do not enter SC-35 domains, suggesting that RNA entry into the domain is blocked. (umassmed.edu)
  • In cell-based assays, it was found that these mutant channels aggregate in the endoplasmic reticulum, not dissimilar from that seen in the CAG expansion mutants above. (wikipedia.org)
  • SCA1
  • Research to develop treatments is ongoing and in addition to conventional pharmaceutical treatment, SCA1 has been the subject of such high technology treatment as gene therapy and stem cell therapy. (wikipedia.org)
  • TCF4
  • Variation in the transcription factor 4 (TCF4) gene has been identified as a major contributor to the disease. (jove.com)
  • fragile-X syndro
  • Epigenetic characterization of the FMR1 gene and aberrant neurodevelopment in human induced pluripotent stem cell models of fragile X syndrome. (nih.gov)
  • While there, she was part of the team that identified the fragile-X syndrome gene. (wikipedia.org)
  • rs613872
  • 7 by conducting genome-wide linkage scan and association with 64 multiplex Caucasian families where they identified rs613872 to be coinciding with the FECD2 locus previously found by Sundin and colleagues. (arvojournals.org)