Hominin-specific regulatory elements selectively emerged in oligodendrocytes and are disrupted in autism patients.

ABSTRACT: Speciation is associated with substantial rewiring of the regulatory circuitry underlying the expression of genes. Determining which changes are relevant and underlie the emergence of the human brain or its unique susceptibility to neural disease has been challenging. Here we annotate changes to gene regulatory elements (GREs) at cell type resolution in the brains of multiple primate species spanning most of primate evolution. We identify a unique set of regulatory elements that emerged in hominins prior to the separation of humans and chimpanzees. We demonstrate that these hominin gains perferentially affect oligodendrocyte function postnatally and are preferentially affected in the brains of autism patients. This preference is also observed for human-specific GREs suggesting this system

SUBMITTER: Castelijns B 

PROVIDER: S-EPMC6965079 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature