DNA methylation contributes to natural human variation

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 (...

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Autores: Heyn, Holger, Moran, Sebastian, Hernando Herráez, Irene, 1985-, Sayols, Sergi, Gómez, Antonio, Sandoval, Juan, Monk, David, Hata, Kenichiro, Marquès i Bonet, Tomàs, 1975-, Wang, Liewei, Esteller, Manel
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2013
País:España
Institución:Universitat Pompeu Fabra
Repositorio:Repositorio Digital de la UPF
OAI Identifier:oai:repositori.upf.edu:10230/23771
Acceso en línea:http://hdl.handle.net/10230/23771
http://dx.doi.org/10.1101/gr.154187.112
Access Level:acceso abierto
Palabra clave:Genètica evolutiva
Evolució (Biologia)
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spelling DNA methylation contributes to natural human variationHeyn, HolgerMoran, SebastianHernando Herráez, Irene, 1985-Sayols, SergiGómez, AntonioSandoval, JuanMonk, DavidHata, KenichiroMarquès i Bonet, Tomàs, 1975-Wang, LieweiEsteller, ManelGenètica evolutivaEvolució (Biologia)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 variationThe 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 ProfessorsCold Spring Harbor Laboratory Press (CSHL Press)201520152013info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfapplication/pdfhttp://hdl.handle.net/10230/23771http://dx.doi.org/10.1101/gr.154187.112reponame:Repositorio Digital de la UPFinstname:Universitat Pompeu FabraInglésGenome Research. 2013;23:1363-72info:eu-repo/grantAgreement/EC/FP7/282510info:eu-repo/grantAgreement/EC/FP7/268626info:eu-repo/grantAgreement/EC/FP7/260372info:eu-repo/grantAgreement/ES/3PN/SAF2011-22803info:eu-repo/grantAgreement/ES/3PN/BFU2011-28549This 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/.http://creativecommons.org/licenses/by-nc/3.0/info:eu-repo/semantics/openAccessoai:repositori.upf.edu:10230/237712026-06-12T07:21:37Z
dc.title.none.fl_str_mv DNA methylation contributes to natural human variation
title DNA methylation contributes to natural human variation
spellingShingle DNA methylation contributes to natural human variation
Heyn, Holger
Genètica evolutiva
Evolució (Biologia)
title_short DNA methylation contributes to natural human variation
title_full DNA methylation contributes to natural human variation
title_fullStr DNA methylation contributes to natural human variation
title_full_unstemmed DNA methylation contributes to natural human variation
title_sort DNA methylation contributes to natural human variation
dc.creator.none.fl_str_mv Heyn, Holger
Moran, Sebastian
Hernando Herráez, Irene, 1985-
Sayols, Sergi
Gómez, Antonio
Sandoval, Juan
Monk, David
Hata, Kenichiro
Marquès i Bonet, Tomàs, 1975-
Wang, Liewei
Esteller, Manel
author Heyn, Holger
author_facet Heyn, Holger
Moran, Sebastian
Hernando Herráez, Irene, 1985-
Sayols, Sergi
Gómez, Antonio
Sandoval, Juan
Monk, David
Hata, Kenichiro
Marquès i Bonet, Tomàs, 1975-
Wang, Liewei
Esteller, Manel
author_role author
author2 Moran, Sebastian
Hernando Herráez, Irene, 1985-
Sayols, Sergi
Gómez, Antonio
Sandoval, Juan
Monk, David
Hata, Kenichiro
Marquès i Bonet, Tomàs, 1975-
Wang, Liewei
Esteller, Manel
author2_role author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Genètica evolutiva
Evolució (Biologia)
topic Genètica evolutiva
Evolució (Biologia)
description 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 variation
publishDate 2013
dc.date.none.fl_str_mv 2013
2015
2015
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/10230/23771
http://dx.doi.org/10.1101/gr.154187.112
url http://hdl.handle.net/10230/23771
http://dx.doi.org/10.1101/gr.154187.112
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Genome Research. 2013;23:1363-72
info:eu-repo/grantAgreement/EC/FP7/282510
info:eu-repo/grantAgreement/EC/FP7/268626
info:eu-repo/grantAgreement/EC/FP7/260372
info:eu-repo/grantAgreement/ES/3PN/SAF2011-22803
info:eu-repo/grantAgreement/ES/3PN/BFU2011-28549
dc.rights.none.fl_str_mv http://creativecommons.org/licenses/by-nc/3.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv http://creativecommons.org/licenses/by-nc/3.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Cold Spring Harbor Laboratory Press (CSHL Press)
publisher.none.fl_str_mv Cold Spring Harbor Laboratory Press (CSHL Press)
dc.source.none.fl_str_mv reponame:Repositorio Digital de la UPF
instname:Universitat Pompeu Fabra
instname_str Universitat Pompeu Fabra
reponame_str Repositorio Digital de la UPF
collection Repositorio Digital de la UPF
repository.name.fl_str_mv
repository.mail.fl_str_mv
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