The Gene Regulatory Evolution of the Human Skeleton (human-chimp and human-gorilla hybrid cells)

Changes in gene regulation are key drivers of human evolution. However, which regulatory changes shaped human adaptations, and especially how, remains largely unknown.

Skeletal alterations have been particularly central in human evolution, facilitating upright locomotion and large brains, and influencing child- birth and our distinctive faces. Here, we generated human-chimp and human-gorilla hybrid osteochondral progenitor cells to study the cis-regulatory expression changes that distinguish humans from other great apes. We identified 4152 chimpanzee-specific, and 4463 human-specific cis-regulatory expression changes.