Shared regulatory sites are abundant in the human genome and shed light on genome evolution and disease pleiotropy.

ABSTRACT: Large-scale gene expression datasets are providing an increasing understanding of the location of cis-eQTLs in the human genome and their role in disease. However, little is currently known regarding the extent of regulatory site-sharing between genes. This is despite it having potentially wide-ranging implications, from the determination of the way in which genetic variants may shape multiple phenotypes to the understanding of the evolution of human gene order. By first identifying the location of non-redundant cis-eQTLs, we show that regulatory site-sharing is a relatively common phenomenon in the human genome, with over 10% of non-redundant regulatory variants linked to the expression of multiple nearby genes. We show that these shared, local regulatory sites are linked to high levels o

SUBMITTER: Tong P 

PROVIDER: S-EPMC5365138 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature