Dominant negative effects on H3K27 methylation by Weaver syndrome-associated EZH2 variants
Orla Deevy, Craig Monger, Francesca Matrà, Ellen Tuck, Eric Conway, Mihaly Badonyi, Darragh Nimmo, Simona Rodighiero, Qi Zhang, Chen Davidovich, Joseph A. Marsh, Diego Pasini, Adrian P. Bracken
This study investigates EZH2 variants linked to Weaver syndrome, showing they cause dominant negative effects on H3K27 methylation, altering chromatin states and contributing to developmental disorders.
bioRxiv · Jun 1, 2023 · PreprintGenetics