ArticleNature neuroscience2021
Activity-dependent regulome of human GABAergic neurons reveals new patterns of gene regulation and neurological disease heritability.
Article in Nature neuroscience, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
What it found
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Who cites it
35 citing papers in PubMed, 67 citations in OpenAlex.
- Transcriptomic and phenotypic convergence of neurodevelopmental disorder risk genes in vitro and in vivo.Nature neuroscience · 2026Article
- Pharmacological manipulation of nested oscillations in human iPSC-derived 2D neuronal networks.Neurobiology of disease · 2026Article
- Deciphering epileptogenic and activity-dependent gene programs in the human brain.bioRxiv : the preprint server for biology · 2026Article
- MeCP2 interacts with the super elongation complex to regulate transcription.Science advances · 2025Article
- Genetic Mechanisms of Experience-Dependent Neuronal Plasticity.Annual review of genetics · 2025Review
- Neuronal activity-dependent gene dysregulation inAmerican journal of physiology. Cell physiology · 2025Article
- Dynamic convergence of neurodevelopmental disorder risk genes across neurodevelopment.bioRxiv : the preprint server for biology · 2025Article
- Multi-omic analysis of the ciliogenic transcription factorbioRxiv : the preprint server for biology · 2025Article
- Just a SNP away: The future ofCell insight · 2025Review
- Neuronal activity-dependent gene expression is stimulus-specific and changes with neuronal maturation.Frontiers in molecular neuroscience · 2025Article
- Sustained Depolarization Induces Gene Expression Pattern Changes Related to Synaptic Plasticity in a Human Cholinergic Cellular Model.Molecular neurobiology · 2025Article
- Stimulating Wnt signaling reveals context-dependent genetic effects on gene regulation in primary human neural progenitors.Nature neuroscience · 2024Article
- A massively parallel reporter assay library to screen short synthetic promoters in mammalian cells.Nature communications · 2024Article
- Modeling common and rare genetic risk factors of neuropsychiatric disorders in human induced pluripotent stem cells.Schizophrenia research · 2024Review
- The gene expression signature of electrical stimulation in the human brain.bioRxiv : the preprint server for biology · 2024Article
- Review
- Exploring the Missing link between vitamin D and autism spectrum disorder: Scientific evidence and new perspectives.Heliyon · 2024Article
- Remyelinating Drugs at a Crossroad: How to Improve Clinical Efficacy and Drug Screenings.Cells · 2024Review
- Multimodal Nature of the Single-cell Primate Brain Atlas: Morphology, Transcriptome, Electrophysiology, and Connectivity.Neuroscience bulletin · 2024Review
- Using deep learning to quantify neuronal activation from single-cell and spatial transcriptomic data.Nature communications · 2024Article
Corrections and comments
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Authors and funding
15 authors at 3 institutions in 2 countries.
Funding
Abstract
Neuronal activity-dependent gene expression is essential for brain development. Although transcriptional and epigenetic effects of neuronal activity have been explored in mice, such an investigation is lacking in humans. Because alterations in GABAergic neuronal circuits are implicated in neurological disorders, we conducted a comprehensive activity-dependent transcriptional and epigenetic profiling of human induced pluripotent stem cell-derived GABAergic neurons similar to those of the early developing striatum. We identified genes whose expression is inducible after membrane depolarization, some of which have specifically evolved in primates and/or are associated with neurological diseases, including schizophrenia and autism spectrum disorder (ASD). We define the genome-wide profile of human neuronal activity-dependent enhancers, promoters and the transcription factors CREB and CRTC1. We found significant heritability enrichment for ASD in the inducible promoters. Our results suggest that sequence variation within activity-inducible promoters of developing human forebrain GABAergic neurons contributes to ASD risk.
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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.