- Sharing our newest study led by the incredibly talented @federicamosti.bsky.social investigating new molecular mechanisms of human brain development. We discover a human-specific enhancer HAR1984 that influences chromatin looping to promote cortical size and folding! www.biorxiv.org/cgi/content/...Aug 10, 2025 13:19
- Using genomically-edited human and chimpanzee organoids, and mouse models, we show the human enhancer boosts progenitor proliferation and neuron production. We further show that human HAR1984 is sufficient to induce cortical folding in an otherwise smooth (lissencephalic) brain!
- It influences neurogenesis by controlling expression of two key target genes, ETV5 and TRA2B, through a positive feedback loop.
- Finally in a fantastic collaboration with Katie Pollard and Katie Gjoni, we discover nearby structural variants that stabilize its chromatin loops with these target genes, suggesting co-evolution of human-specific DNA changes.
- Grateful to additional fantastic co-authors including @jingliu1129.bsky.social , Katie Lam, Samantha Skavicus, Nick Heaton, Victoria Kapp. Also enormously grateful to funding from NIMH which made our discoveries possible.
