Journal
CELL REPORTS
Volume 37, Issue 10, Pages -Publisher
CELL PRESS
DOI: 10.1016/j.celrep.2021.110089
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Funding
- Nina Ireland
- Simons Foundation
- NINDS [R01 Ns099099]
- [R35NS097299]
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Deleterious genetic variants in POGZ are strongly associated with ASD and affect the expression of synaptic genes and chromatin states, playing a role in neurodevelopment.
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 (REs). We profile chromatin accessibility and gene expression in Pogz(-/-) 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.
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