Human evolved regulatory elements modulate genes involved in cortical expansion and neurodevelopmental disease susceptibility.

ABSTRACT: Modern genetic studies indicate that human brain evolution is driven primarily by changes in gene regulation, which requires understanding the biological function of largely non-coding gene regulatory elements, many of which act in tissue specific manner. We leverage chromatin interaction profiles in human fetal and adult cortex to assign three classes of human-evolved elements to putative target genes. We find that human-evolved elements involving DNA sequence changes and those involving epigenetic changes are associated with human-specific gene regulation via effects on different classes of genes representing distinct biological pathways. However, both types of human-evolved elements converge on specific cell types and laminae involved in cerebral cortical expansion. Moreover, human evol

SUBMITTER: Won H 

PROVIDER: S-EPMC6546784 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature