Evolution of DNAase I Hypersensitive Sites in MHC Regulatory Regions of Primates.

ABSTRACT: It has been challenging to determine the disease-causing variant(s) for most major histocompatibility complex (MHC)-associated diseases. However, it is becoming increasingly clear that regulatory variation is pervasive and a fundamentally important mechanism governing phenotypic diversity and disease susceptibility. We gathered DNase I data from 136 human cells to characterize the regulatory landscape of the MHC region, including 4867 DNase I hypersensitive sites (DHSs). We identified thousands of regulatory elements that have been gained or lost in the human or chimpanzee genomes since their evolutionary divergence. We compared alignments of the DHS across six primates and found 149 DHSs with convincing evidence of positive and/or purifying selection. Of these DHSs, compared to neutral se

SUBMITTER: Jin Y 

PROVIDER: S-EPMC5972428 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature