DNA methylation contributes to natural human variation

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• dc.contributor.author Heyn, Holgerca
• dc.contributor.author Moran, Sebastianca
• dc.contributor.author Hernando Herráez, Irene, 1985-ca
• dc.contributor.author Sayols, Sergica
• dc.contributor.author Gómez, Antonioca
• dc.contributor.author Sandoval, Juanca
• dc.contributor.author Monk, Davidca
• dc.contributor.author Hata, Kenichiroca
• dc.contributor.author Marquès i Bonet, Tomàs, 1975-ca
• dc.contributor.author Wang, Lieweica
• dc.contributor.author Esteller, Manelca
• dc.date.accessioned 2015-06-09T08:10:56Z
• dc.date.available 2015-06-09T08:10:56Z
• dc.date.issued 2013ca
• dc.description.abstract DNA 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 genome-scale 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 variationen
• dc.description.sponsorship The research leading to these results received funding from the European Research Council (ERC) grant EPINORC under agreement number268626,ERC StartingGrant(260372),NIHgrantsCA138461 and GM61388 (Pharmacogenomics Research Network), the MICINN Projects SAF2011-22803 andBFU2011-28549,the CellexFoundation, the European Community’s Seventh Framework Programme (FP7/2007-2013) from grant HEALTH-F5-2011-282510 (BLUEPRINT), and the Health and Science Departments of the Generalitat de Catalunya. I.H.H. is a fellow of the Generalitat de Catalunya (FI 2011). T.M.B. and M.E. are ICREA Research Professorsen
• dc.format.mimetype application/pdfca
• dc.identifier.citation Heyn H, Moran S, Hernando-Herraez I, Sayols S, Gómez A, Sandoval J et al. DNA methylation contributes to natural human variation. Genome Research. 2013;23:1363-72. DOI: 10.1101/gr.154187.112ca
• dc.identifier.doi http://dx.doi.org/10.1101/gr.154187.112
• dc.identifier.issn 1088-9051ca
• dc.identifier.uri http://hdl.handle.net/10230/23771
• dc.language.iso engca
• dc.publisher Cold Spring Harbor Laboratory Press (CSHL Press)ca
• dc.relation.ispartof Genome Research. 2013;23:1363-72
• dc.relation.projectID info:eu-repo/grantAgreement/EC/FP7/282510ca
• dc.relation.projectID info:eu-repo/grantAgreement/EC/FP7/268626
• dc.relation.projectID info:eu-repo/grantAgreement/EC/FP7/260372
• dc.relation.projectID info:eu-repo/grantAgreement/ES/3PN/SAF2011-22803
• dc.relation.projectID info:eu-repo/grantAgreement/ES/3PN/BFU2011-28549
• dc.rights This article, published in Genome Research, is available under a Creative Commons License (Attribution-NonCommercial 3.0 Unported), as described at http://creativecommons.org/licenses/by-nc/3.0/.en
• dc.rights.accessRights info:eu-repo/semantics/openAccessca
• dc.rights.uri http://creativecommons.org/licenses/by-nc/3.0/
• dc.subject.other Genètica evolutivaca
• dc.subject.other Evolució (Biologia)ca
• dc.title DNA methylation contributes to natural human variationen
• dc.type info:eu-repo/semantics/articleca
• dc.type.version info:eu-repo/semantics/publishedVersionca