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Title

DNA methylation contributes to natural human variation

AuthorsHeyn, Holger; Hernando-Herraez, Irene ; Marqués-Bonet, Tomàs ; Esteller, Manel
Issue Date2013
PublisherCold Spring Harbor Laboratory Press
CitationGenome Research 23: 1363-1372 (2013)
AbstractDNA methylation patterns are important for establishing cell, tissue, and organism phenotypes, but little is known about their contribution to natural human variation. To determine their contribution to variability, we have generated genomescale DNA methylation profiles of three human populations (Caucasian-American, African-American, and Han Chinese-American) and examined the differentially methylated CpG sites. The distinctly methylated genes identified suggest an influence of DNA methylation on phenotype differences, such as susceptibility to certain diseases and pathogens, and response to drugs and environmental agents. DNA methylation differences can be partially traced back to genetic variation, suggesting that differentially methylated CpG sites serve as evolutionarily established mediators between the genetic code and phenotypic variability. Notably, one-third of the DNA methylation differences were not associated with any genetic variation, suggesting that variation in population-specific sites takes place at the genetic and epigenetic levels, highlighting the contribution of epigenetic modification to natural human variation. © 2013, Published by Cold Spring Harbor Laboratory Press.
DescriptionHeyn, Holger el al.-- This article, published in Genome Research, is available under a Creative Commons License (Attribution-NonCommercial 3.0 Unported).
Publisher version (URL)http://dx.doi.org/10.1101/gr.154187.112
URIhttp://hdl.handle.net/10261/112296
DOI10.1101/gr.154187.112
Identifiersdoi: 10.1101/gr.154187.112
issn: 1088-9051
e-issn: 1549-5469
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