a genome-wide study of dna methylation patterns and gene expression levels in multiple human and chimpanzee tissues全基因组研究dna甲基化模式和基因表达水平在多个人类和黑猩猩的组织.pdfVIP

A Genome-Wide Study of DNA Methylation Patterns and Gene Expression Levels in Multiple Human and Chimpanzee Tissues 1 1¤a 1¤b 1,2 1 Athma A. Pai *, Jordana T. Bell , John C. Marioni , Jonathan K. Pritchard *, Yoav Gilad * 1 Department of Human Genetics, University of Chicago, Chicago, Illinois, United States of America, 2 Howard Hughes Medical Institute, University of Chicago, Chicago, Illinois, United States of America Abstract The modification of DNA by methylation is an important epigenetic mechanism that affects the spatial and temporal regulation of gene expression. Methylation patterns have been described in many contexts within and across a range of species. However, the extent to which changes in methylation might underlie inter-species differences in gene regulation, in particular between humans and other primates, has not yet been studied. To this end, we studied DNA methylation patterns in livers, hearts, and kidneys from multiple humans and chimpanzees, using tissue samples for which genome-wide gene expression data were also available. Using the multi-species gene expression and methylation data for 7,723 genes, we were able to study the role of promoter DNA methylation in the evolution of gene regulation across tissues and species. We found that inter-tissue methylation patterns are often conserved between humans and chimpanzees. However, we also found a large number of gene expression differences between species that might be explained, at least in part, by corresponding differences in methylation levels. In particular, we estimate that, in the tissues we studied, inter-species differences in promoter methylation m