Signatures of Recent Positive Selection in Enhancers Across 41 Human Tissues.

ABSTRACT: Evolutionary changes in enhancers are widely associated with variation in human traits and diseases. However, studies comprehensively quantifying levels of selection on enhancers at multiple evolutionary periods during recent human evolution and how enhancer evolution varies across human tissues are lacking. To address these questions, we integrated a dataset of 41,561 transcribed enhancers active in 41 different human tissues (FANTOM Consortium) with whole genome sequences of 1,668 individuals from the African, Asian, and European populations (1000 Genomes Project). Our analyses based on four different metrics (Tajima's D, F _ST, H12, nS _L) showed that ∼5.90% of enhancers showed evidence of recent positive selection and that genes associated with

SUBMITTER: Moon JM 

PROVIDER: S-EPMC6686946 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature