ArticleCell reports2021
Autism risk gene POGZ promotes chromatin accessibility and expression of clustered synaptic genes.
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Article in Cell reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers.
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46citing papers in PubMed
11.6field-weighted citation impact, top 1% of its field
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Who cites it
46 citing papers in PubMed, 76 citations in OpenAlex.
- Zebrafish behavioral phenomics reveals functional subtypes of autism risk genes.Molecular psychiatry · 2026Article
- Wiz regulates clustered protocadherin genes by restricting CTCF/cohesin loop extrusion in a genomic-distance biased manner.PLoS genetics · 2026Article
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- An Adnp frameshift variant disrupts Wnt signalling inducing chromatocytoskeletal defects and autism-related behaviour in male mice.EBioMedicine · 2026Article
- Reciprocal regulation between autism risk gene POGZ and circadian clock.JCI insight · 2026Article
- Transcriptomic and phenotypic convergence of neurodevelopmental disorder risk genes in vitro and in vivo.Nature neuroscience · 2026Article
- A single-cell multiomic analysis identifies molecular and gene-regulatory mechanisms dysregulated in developing Down syndrome neocortex.Science (New York, N.Y.) · 2026Article
- The Zinc-Finger Protein POGZ Associates with Polycomb Repressive Complex 1 to Regulate Bone Morphogenetic Protein Signaling During Neuronal Differentiation.Stem cell reviews and reports · 2026Article
- Mix-and-match between transposable elements and zinc finger proteins fuels genic and regulatory innovation.Current opinion in genetics & development · 2025Review
- A frameshift variant in activity-dependent neuroprotective protein (ADNP) causes nucleocytoskeletal alterations in a dizygotic male twin: a case study.Clinical epigenetics · 2025Article
- CRISPR-engineered deletion ofbioRxiv : the preprint server for biology · 2025Article
- Dynamic convergence of neurodevelopmental disorder risk genes across neurodevelopment.bioRxiv : the preprint server for biology · 2025Article
- Synaptic Deficits in Adnp-Mutant Mice Are Ameliorated by Histone Demethylase LSD1 Inhibition.Autism research : official journal of the International Society for Autism Research · 2025Article
- The chromatin remodeler ADNP regulates neurodevelopmental disorder risk genes and neocortical neurogenesis.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- CHAMP1 premature termination codon mutations found in individuals with intellectual disability cause a homologous recombination defect through haploinsufficiency.Scientific reports · 2024Article
- O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG): Potential mechanistic targets revealed by evaluating the OGT interactome.The Journal of biological chemistry · 2024Review
- Five autism-associated transcriptional regulators target shared loci proximal to brain-expressed genes.Cell reports · 2024Article
- Genetic architecture of childhood speech disorder: a review.Molecular psychiatry · 2024Review
- ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel-Van der Aa syndrome autopsy case.Acta neuropathologica communications · 2024Article
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Authors and funding
14 authors at 4 institutions in 1 country.
Eirene Markenscoff-PapadimitriouDepartment of Psychiatry, Langley Porter Psychiatric Institute, UCSF Weill Institute for Neurosciences, University of California, San Francisco, CA, USA. Electronic address: Eirene.Markenscoff-Papadimitriou@ucsf.edu.
Fadya BinyameenDepartment of Psychiatry, Langley Porter Psychiatric Institute, UCSF Weill Institute for Neurosciences, University of California, San Francisco, CA, USA.
Sean WhalenGladstone Institutes, San Francisco, CA, USA.
James PriceDepartment of Psychiatry, Langley Porter Psychiatric Institute, UCSF Weill Institute for Neurosciences, University of California, San Francisco, CA, USA.
Kenneth LimDepartment of Psychiatry, Langley Porter Psychiatric Institute, UCSF Weill Institute for Neurosciences, University of California, San Francisco, CA, USA.
Athena R YpsilantiDepartment of Psychiatry, Langley Porter Psychiatric Institute, UCSF Weill Institute for Neurosciences, University of California, San Francisco, CA, USA.
Rinaldo Catta-PretaDepartments of Neurobiology, Physiology, and Behavior and Psychiatry and Behavioral Sciences, University of California, Davis, Davis, CA, USA.
Emily Ling-Lin PaiDepartment of Psychiatry, Langley Porter Psychiatric Institute, UCSF Weill Institute for Neurosciences, University of California, San Francisco, CA, USA.
Xin MuDepartment of Radiology.
Duan XuDepartment of Radiology.
Katherine S PollardGladstone Institutes, San Francisco, CA, USA; Chan-Zuckerberg Biohub, San Francisco, CA, USA; Institute for Computational Health Sciences, University of California, San Francisco, CA, USA; Institute for Human Genetics, University of California, San Francisco, CA, USA; Department of Epidemiology and Biostatistics, University of California, San Francisco, CA, USA; Quantitative Biology Institute, University of California, San Francisco, CA, USA.
Alex S NordDepartments of Neurobiology, Physiology, and Behavior and Psychiatry and Behavioral Sciences, University of California, Davis, Davis, CA, USA.
Matthew W StateDepartment of Psychiatry, Langley Porter Psychiatric Institute, UCSF Weill Institute for Neurosciences, University of California, San Francisco, CA, USA.
John L RubensteinDepartment of Psychiatry, Langley Porter Psychiatric Institute, UCSF Weill Institute for Neurosciences, University of California, San Francisco, CA, USA. Electronic address: John.Rubenstein@ucsf.edu.
University of California, San Francisco · USUniversity of California, Davis · USGladstone Institutes · USQB3 · US
Funding
Genetic Control of Basal Telencephalic DevelopmentR01MH081880 · NIMH · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI RUBENSTEIN, JOHN L. R. · 2009 to 2023
$8.1MGenetic Studies of Cortex Structure and DevelopmentR01NS099099 · NINDS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI RUBENSTEIN, JOHN L. R. · 2016 to 2025
$6.4MPrecision Therapy for Neonatal Brain InjuryR35NS097299 · NINDS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI FERRIERO, DONNA M. · 2017 to 2024
$6.3MSTRUCTURE, EXPRESSION &FUNCTION OF THE DLX GENE FAMILYR01MH049428 · NIMH · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI RUBENSTEIN, JOHN L. R. · 1992 to 2022
$5.8MGENETIC STUDIES OF CORTEX STRUCTURE AND DEVELOPMENTR01NS034661 · NINDS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI RUBENSTEIN, JOHN L. R. · 1996 to 2015
$4.6MFunctional Elucidation of the Sequence-Encoded Regulatory Activity of Enhancers in Vivo in the BrainR35GM119831 · NIGMS · UNIVERSITY OF CALIFORNIA AT DAVIS · PI Alexander Nord · 2016 to 2026
$3.9MNIGMS NIH HHS R35 GM119831NIMH NIH HHS R01 MH049428NIMH NIH HHS R01 MH081880NINDS NIH HHS R01 NS034661NINDS NIH HHS R01 NS099099NINDS NIH HHS R35 NS097299
Abstract
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
Indexed as
Chromatin Assembly and DisassemblyAnimalsAutistic DisorderBinding SitesBrainCell Cycle ProteinsDNA-Binding ProteinsDNA Transposable ElementsEnhancer Elements, GeneticEuchromatinFemaleGene Expression Regulation, DevelopmentalGenetic Predisposition to DiseaseHomeodomain ProteinsMaleMiceADNP protein, humanAdnp protein, mouseCell Cycle ProteinsDNA-Binding ProteinsDNA Transposable ElementsEuchromatinHomeodomain ProteinsNerve Tissue ProteinsPOGZ protein, humanPogz protein, mouseTransposases
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.