ArticleNature communications2020
Pogz deficiency leads to transcription dysregulation and impaired cerebellar activity underlying autism-like behavior in mice.
Article in Nature communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 41 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
41 citing papers in PubMed, 65 citations in OpenAlex.
- Reciprocal regulation between autism risk gene POGZ and circadian clock.JCI insight · 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
- Article
- Top2a-dependent neuronal regulation of social behavior and persistent rescue of social deficit through PRC2-mediated epigenetic reprogramming.bioRxiv : the preprint server for biology · 2026Article
- Understanding the Brain as a Mentalizing Machine with a Symbol Grounding Function.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2026Review
- Absence of Ledgf in mouse brain affects the Kmt2a/b and polycomb balance, synaptic transmission and motor function.Acta neuropathologica communications · 2026Article
- Developmental trajectories of vocal behaviors in common marmosets as a reference framework for neurobehavioral studies.Frontiers in neural circuits · 2026Article
- Environmental context modulates sociability in ube3a zebrafish mutants via alterations in sensory pathways.Molecular psychiatry · 2026Article
- Genetic and clinical features of microcephaly in a prenatal cohort.BMC pregnancy and childbirth · 2025Article
- Gene replacement therapy for Piga GPI-anchor deficiency in the developing nervous system.bioRxiv : the preprint server for biology · 2025Article
- CRISPR-engineered deletion ofbioRxiv : the preprint server for biology · 2025Article
- POGZ targeted by LINC01355/miR-27b-3p retards thyroid cancer progression via interplaying with MAD2L2.3 Biotech · 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
- Clinical and genetic findings in autism spectrum disorders analyzed using exome sequencing.Frontiers in psychiatry · 2025Article
- CHAMP1 premature termination codon mutations found in individuals with intellectual disability cause a homologous recombination defect through haploinsufficiency.Scientific reports · 2024Article
- Rapid effects of valproic acid on the fetal brain transcriptome: implications for brain development and autism.Translational psychiatry · 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
- Analyses of Conditional Knockout Mice forCells · 2024Article
- Rapid effects of valproic acid on the fetal brain transcriptome: Implications for brain development and autism.Research square · 2024Article
- Identification and Analysis of ZIC-Related Genes in Cerebellum of Autism Spectrum Disorders.Neuropsychiatric disease and treatment · 2024Article
Corrections and comments
- Erratum issued
Authors and funding
14 authors at 5 institutions in 4 countries.
Funding
Abstract
Several genes implicated in autism spectrum disorder (ASD) are chromatin regulators, including POGZ. The cellular and molecular mechanisms leading to ASD impaired social and cognitive behavior are unclear. Animal models are crucial for studying the effects of mutations on brain function and behavior as well as unveiling the underlying mechanisms. Here, we generate a brain specific conditional knockout mouse model deficient for Pogz, an ASD risk gene. We demonstrate that Pogz deficient mice show microcephaly, growth impairment, increased sociability, learning and motor deficits, mimicking several of the human symptoms. At the molecular level, luciferase reporter assay indicates that POGZ is a negative regulator of transcription. In accordance, in Pogz deficient mice we find a significant upregulation of gene expression, most notably in the cerebellum. Gene set enrichment analysis revealed that the transcriptional changes encompass genes and pathways disrupted in ASD, including neurogenesis and synaptic processes, underlying the observed behavioral phenotype in mice. Physiologically, Pogz deficiency is associated with a reduction in the firing frequency of simple and complex spikes and an increase in amplitude of the inhibitory synaptic input in cerebellar Purkinje cells. Our findings support a mechanism linking heterochromatin dysregulation to cerebellar circuit dysfunction and behavioral abnormalities in ASD.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.