2026-04-17T05:12:42Zhttps://recercat.cat/oai/request

oai:recercat.cat:2445/1728532025-12-05T09:35:37Zcom_2072_1057col_2072_478799col_2072_478916col_2072_478917

00925njm 22002777a 4500 dc Heyn, Holger author Moran, Sebastian author Hernando Herraez, Irene author Sayols, Sergi author Gomez, Antonio author Sandoval, Juan author Monk, Dave Nicholas author Hata, Kenichiro author Marques Bonet, Tomas author Wang, Liewei author Esteller, Manel author 2020-12-17T16:47:37Z 2020-12-17T16:47:37Z 2013-12-01 2020-12-17T16:47:38Z 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. ADN Metilació Genètica DNA Methylation Genetics DNA methylation contributes to natural human variation