A transposase-derived gene required for human brain development
Luz Jubierre, Sara A. Lewis, Rodrigo Lopez Gutierrez, Makiko Yamada, Elias Rodríguez-Fos, Mercè Planas-Fèlix, Daniel Cameron, Phillip Demarest, Anika Nabila, Helen Mueller, Junfei Zhao, Paul Bergin, Casie Reed, Tzippora Chwat-Edelstein, Alex Michael Pagnozzi, , Alex Kentsis
This study identifies PGBD5 as a transposase-derived gene essential for brain development in humans and mice, with deficiency causing intellectual disability and seizures.
Science Advances · Jan 14, 2026Peer-reviewedNeuroscience