Interrogating the Regulatory Function of HAQERs during Human Cortical Development.

ABSTRACT:

Background

Sequence divergence within gene regulatory elements has been proposed to play an important role in the evolution of human-specific traits, including cortical expansion. However, the mutational processes that efficiently modify gene regulatory elements and the target genes upon which they act are poorly understood. We investigated the regulatory function and origins of the fastest evolved regions in the human genome, termed Human Ancestor Quickly Evolved Regions (HAQERs), in their native genomic context during human cerebral cortex development.

Results

We identified 50 HAQERs with accessible chromatin in developing human cortex, largely arising from previously unconstrained ancestral sequences. To test the necessity of these HAQERs for gene regulation, we establish

SUBMITTER: Abeykoon Y 

PROVIDER: S-EPMC12687773 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature