Autism risk gene POGZ promotes chromatin accessibility and expression of clustered synaptic genes
Eirene Markenscoff-Papadimitriou, Fadya Binyameen, Sean Whalen, James D. Price, Kenneth Lim, Athéna R. Ypsilanti, Rinaldo Catta-Preta, Emily Ling-Lin Pai, Xin Mu, Xu Duan, Katherine S. Pollard, Alex S. Nord, Matthew W. State, John L.R. Rubenstein
Abstract
mice and show that POGZ promotes the active chromatin state and transcription of clustered synaptic genes. We further demonstrate that POGZ forms a nuclear complex and co-occupies loci with ADNP, another high-confidence ASD risk gene, and provide evidence that POGZ regulates other neurodevelopmental disorder risk genes as well. Our results reveal a neurodevelopmental function of an ASD risk gene and identify molecular targets that may elucidate its function in ASD.
Topics & Concepts
AutismChromatinGeneGene expressionGeneticsBiologyComputational biologyNeuroscienceMedicinePsychiatryGenetics and Neurodevelopmental DisordersAutism Spectrum Disorder ResearchGenomics and Chromatin Dynamics