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dc.contributor.authorHellman, Asaf
dc.contributor.authorChess, Andrew Jonathan
dc.date.accessioned2011-03-10T00:13:00Z
dc.date.issued2010
dc.identifier.citationHellman, Asaf, and Andrew Chess. 2010. Extensive sequence-influenced DNA methylation polymorphism in the human genome. Epigenetics & Chromatin 3: 11.en_US
dc.identifier.issn1756-8935en_US
dc.identifier.urihttp://nrs.harvard.edu/urn-3:HUL.InstRepos:4740116
dc.description.abstractBackground: Epigenetic polymorphisms are a potential source of human diversity, but their frequency and relationship to genetic polymorphisms are unclear. DNA methylation, an epigenetic mark that is a covalent modification of the DNA itself, plays an important role in the regulation of gene expression. Most studies of DNA methylation in mammalian cells have focused on CpG methylation present in CpG islands (areas of concentrated CpGs often found near promoters), but there are also interesting patterns of CpG methylation found outside of CpG islands. Results: We compared DNA methylation patterns on both alleles between many pairs (and larger groups) of related and unrelated individuals. Direct observation and simulation experiments revealed that around 10% of common single nucleotide polymorphisms (SNPs) reside in regions with differences in the propensity for local DNA methylation between the two alleles. We further showed that for the most common form of SNP, a polymorphism at a CpG dinucleotide, the presence of the CpG at the SNP positively affected local DNA methylation in cis. Conclusions: Taken together with the known effect of DNA methylation on mutation rate, our results suggest an interesting interdependence between genetics and epigenetics underlying diversity in the human genome.en_US
dc.language.isoen_USen_US
dc.publisherBioMed Centralen_US
dc.relation.isversionofdoi:10.1186/1756-8935-3-11en_US
dc.relation.hasversionhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC2893533/pdf/en_US
dash.licenseLAA
dc.titleExtensive Sequence-Influenced DNA Methylation Polymorphism in the Human Genomeen_US
dc.typeJournal Articleen_US
dc.description.versionVersion of Recorden_US
dc.relation.journalEpigenetics & Chromatinen_US
dash.depositing.authorChess, Andrew Jonathan
dc.date.available2011-03-10T00:13:00Z
dash.affiliation.otherHMS^Medicine-Massachusetts General Hospitalen_US
dc.identifier.doi10.1186/1756-8935-3-11*
dash.contributor.affiliatedChess, Andrew


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