DNA methylation contributes to natural human variation

DNA methylation contributes to natural human variation

Heyn, Holger el al.-- This article, published in Genome Research, is available under a Creative Commons License (Attribution-NonCommercial 3.0 Unported).

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Main Authors: Heyn, Holger, Hernando-Herraez, Irene, Marqués-Bonet, Tomàs, Esteller, Manel
Other Authors: European Commission
Format: artículo biblioteca
Published: Cold Spring Harbor Laboratory Press 2013
Online Access:http://hdl.handle.net/10261/112296
http://dx.doi.org/10.13039/501100000780
http://dx.doi.org/10.13039/501100004837
http://dx.doi.org/10.13039/501100002809
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spelling dig-ibe-es-10261-1122962021-12-27T15:59:24Z DNA methylation contributes to natural human variation Heyn, Holger Hernando-Herraez, Irene Marqués-Bonet, Tomàs Esteller, Manel European Commission Ministerio de Ciencia e Innovación (España) Fundació Privada Cellex Generalitat de Catalunya Heyn, Holger el al.-- This article, published in Genome Research, is available under a Creative Commons License (Attribution-NonCommercial 3.0 Unported). 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 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. The research leading to these results received funding from the European Research Council (ERC) grant EPINORC under agreement number 268626, ERC Starting Grant (260372), NIH grants CA138461 and GM61388 (Pharmacogenomics Research Network), the MICINN Projects SAF2011-22803 and BFU2011-28549, the Cellex Foundation, 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). Peer Reviewed 2015-03-12T12:53:55Z 2015-03-12T12:53:55Z 2013 2015-03-12T12:53:55Z artículo http://purl.org/coar/resource_type/c_6501 doi: 10.1101/gr.154187.112 issn: 1088-9051 e-issn: 1549-5469 Genome Research 23: 1363-1372 (2013) http://hdl.handle.net/10261/112296 10.1101/gr.154187.112 http://dx.doi.org/10.13039/501100000780 http://dx.doi.org/10.13039/501100004837 http://dx.doi.org/10.13039/501100002809 23908385 #PLACEHOLDER_PARENT_METADATA_VALUE# #PLACEHOLDER_PARENT_METADATA_VALUE# info:eu-repo/grantAgreement/EC/FP7/268626 info:eu-repo/grantAgreement/EC/FP7/282510 Publisher's version http://dx.doi.org/10.1101/gr.154187.112 Sí open Cold Spring Harbor Laboratory Press
institution IBE ES
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country España
countrycode ES
component Bibliográfico
access En linea
databasecode dig-ibe-es
tag biblioteca
region Europa del Sur
libraryname Biblioteca del IBE España
description Heyn, Holger el al.-- This article, published in Genome Research, is available under a Creative Commons License (Attribution-NonCommercial 3.0 Unported).
author2 European Commission
author_facet European Commission
Heyn, Holger
Hernando-Herraez, Irene
Marqués-Bonet, Tomàs
Esteller, Manel
format artículo
author Heyn, Holger
Hernando-Herraez, Irene
Marqués-Bonet, Tomàs
Esteller, Manel
spellingShingle Heyn, Holger
Hernando-Herraez, Irene
Marqués-Bonet, Tomàs
Esteller, Manel
DNA methylation contributes to natural human variation
author_sort Heyn, Holger
title DNA methylation contributes to natural human variation
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
publisher Cold Spring Harbor Laboratory Press
publishDate 2013
url http://hdl.handle.net/10261/112296
http://dx.doi.org/10.13039/501100000780
http://dx.doi.org/10.13039/501100004837
http://dx.doi.org/10.13039/501100002809
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AT hernandoherraezirene dnamethylationcontributestonaturalhumanvariation
AT marquesbonettomas dnamethylationcontributestonaturalhumanvariation
AT estellermanel dnamethylationcontributestonaturalhumanvariation
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