Loading...
  • gene
  • Only a minority of tDMRs mapped to gene-body CpG islands (13%) or CpG islands shores (25%) suggesting a less prominent role for these regions than indicated previously. (biomedcentral.com)
  • Bisulfite sequencing and phylogenetic comparison among human, chimpanzee, rhesus macaque and rat suggested several regions of lineage specific DNA methylation, including a human specific hypomethylated region in the promoter of K6IRS2 gene. (beds.ac.uk)
  • They are major regulatory units and around 50% of CpG islands are located in gene promoter regions, while another 25% lie in gene bodies, often serving as alternative promoters. (wikipedia.org)
  • For example, of 113 colorectal cancers examined, only four had a missense mutation in the DNA repair gene MGMT, while the majority had reduced MGMT expression due to methylation of the MGMT promoter region. (wikipedia.org)
  • The protein CTCF plays a heavy role in repressing the insulin-like growth factor 2 gene, by binding to the H-19 imprinting control region (ICR) along with differentially-methylated region-1 (DMR1) and MAR3. (wikipedia.org)
  • tissues
  • Various studies have compared tissues to characterize epigenetically regulated genomic regions, but due to differences in study design and focus there still is no consensus as to the annotation of genomic regions predominantly involved in tissue-specific methylation. (biomedcentral.com)
  • We used a new algorithm to identify and annotate tissue-specific differentially methylated regions (tDMRs) from Illumina 450k chip data for four peripheral tissues (blood, saliva, buccal swabs and hair follicles) and six internal tissues (liver, muscle, pancreas, subcutaneous fat, omentum and spleen with matched blood samples). (biomedcentral.com)
  • primarily
  • These were primarily in regions coding for transcription factors that are involved in cell differentiation and skeletal formation, suggesting there may be a developmental predisposition for these disorders. (wikipedia.org)
  • exons
  • Further analysis revealed that these regions were associated with alternative transcription events (alternative first exons, mutually exclusive exons and cassette exons). (biomedcentral.com)
  • intergenic
  • The sheep homolog is associated with the callipyge mutation which in heterozygous individuals affects a muscle-specific long-range control element located in the DLK1-GTL2 intergenic region and results in the callipyge muscular hypertrophy. (wikipedia.org)
  • transcripts
  • An antisense transcript exists, and this antisense transcript and one of the transcripts are paternally expressed, produce noncoding RNAs, and may regulate imprinting in this region. (wikipedia.org)
  • islands
  • CpG islands are usually defined as regions with 1) a length greater than 200bp, 2) a G+C content greater than 50%, 3) a ratio of observed to expected CpG greater than 0.6, although other definitions are sometimes used. (wikipedia.org)
  • Though objective definitions for CpG islands are limited, the usual formal definition is a region with at least 200 bp, a GC percentage greater than 50%, and an observed-to-expected CpG ratio greater than 60 %[clarification needed]. (wikipedia.org)
  • specific
  • The standard index of DNA methylation at any specific CpG site is β = M /( M + U + 100) where M and U are methylated and unmethylated signal intensities, respectively. (biomedcentral.com)
  • For both BeadChips the customary index of DNA methylation fraction at a specific CpG site is calculated as β = M /( M + U + α ) where M and U are methylated and unmethylated signal intensities and α is an arbitrary offset (usually 100) intended to stabilize β values where fluorescent intensities are low. (biomedcentral.com)