Massively parallel discovery of human-specific substitutions that alter enhancer activity.

ABSTRACT: Genetic changes that altered the function of gene regulatory elements have been implicated in the evolution of human traits such as the expansion of the cerebral cortex. However, identifying the particular changes that modified regulatory activity during human evolution remain challenging. Here we used massively parallel enhancer assays in neural stem cells to quantify the functional impact of >32,000 human-specific substitutions in >4,300 human accelerated regions (HARs) and human gain enhancers (HGEs), which include enhancers with novel activities in humans. We found that >30% of active HARs and HGEs exhibited differential activity between human and chimpanzee. We isolated the effects of human-specific substitutions from background genetic variation to identify the effects of genetic cha

SUBMITTER: Uebbing S 

PROVIDER: S-EPMC7812811 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature