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http://hdl.handle.net/2445/172853
Title: | DNA methylation contributes to natural human variation |
Author: | Heyn, Holger Moran, Sebastian Hernando Herraez, Irene Sayols, Sergi Gomez, Antonio Sandoval, Juan Monk, Dave Nicholas Hata, Kenichiro Marques Bonet, Tomas Wang, Liewei Esteller, Manel |
Keywords: | ADN Metilació Genètica DNA Methylation Genetics |
Issue Date: | 1-Dec-2013 |
Publisher: | Cold Spring Harbor Laboratory Press |
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 variation. |
Note: | Reproducció del document publicat a: https://doi.org/10.1101/gr.154187.112 |
It is part of: | Genome Research, 2013, vol. 23, num. 9, p. 1363-1372 |
URI: | http://hdl.handle.net/2445/172853 |
Related resource: | https://doi.org/10.1101/gr.154187.112 |
ISSN: | 1088-9051 |
Appears in Collections: | Articles publicats en revistes (Ciències Fisiològiques) Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
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