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Article

Autism risk gene POGZ promotes chromatin accessibility and expression of clustered synaptic genes.

Cell reports - 7 Dec 2021

Markenscoff-Papadimitriou Eirene, Binyameen Fadya, Whalen Sean, Price James, Lim Kenneth, Ypsilanti Athena R, Catta-Preta Rinaldo, Pai Emily Ling-Lin, Mu Xin, Xu Duan, Pollard Katherine S, Nord Alex S, State Matthew W, Rubenstein John L

Abstract excerpt

Deleterious genetic variants in POGZ, which encodes the chromatin regulator Pogo Transposable Element with ZNF Domain protein, are strongly associated with autism spectrum disorder (ASD). Although it is a high-confidence ASD risk gene, the neurodevelopmental functions of POGZ remain unclear. Here we reveal the genomic binding of POGZ in the developing forebrain at euchromatic loci and gene regulatory elements...

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Autistic Disorder
Chromatin Assembly and Disassembly
DNA Transposable Elements
Enhancer Elements, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 34879283
DOI: 10.1016/j.celrep.2021.110089
PMCID: PMC9512081

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