ArticleBiological psychiatry2020
MEF2C Hypofunction in Neuronal and Neuroimmune Populations Produces MEF2C Haploinsufficiency Syndrome-like Behaviors in Mice.
Article in Biological psychiatry, 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 48 papers, 1 of them a synthesis that pooled it.
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Who cites it
48 citing papers in PubMed, 1 synthesis or guideline pooled it, 65 citations in OpenAlex.
- Bibliometric study of neuroinflammation in autism spectrum disorder.Frontiers in psychiatry · 2023Pooled it
- Hyperfunction of PSD-95 leads to hyperexcitability and cognitive abnormalities in MEF2C haploinsufficiency.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Advancements in the Understanding of the Genetics of Obsessive-Compulsive Disorder (OCD).Current psychiatry reports · 2026Review
- Genomic landscape of rare variants in a Chinese autism cohort and discovery of novel risk genes.Molecular psychiatry · 2026Article
- Shared genetic architecture between ADHD and intelligence varies across ADHD subtypes.BMC medicine · 2026Article
- Genetic architecture of white matter microstructure captured by unsupervised deep representation learning of fractional anisotropy maps.Nature communications · 2026Article
- Excitatory neurons and astrocytes-specific dysregulation and aberrant interactions are vulnerable to FCDI as suggested by single-cell spatial transcriptomics.Clinical and translational medicine · 2026Article
- MEF2C controls lysosomal and lipid clearance programs linked to Alzheimer's disease risk in macrophages.Research square · 2026Article
- Conserved Cell-Type-Specific Transcriptomic Networks and Regulatory Programs Underlie Alcohol Dependence Across Mouse and Human.Research square · 2026Article
- Genome-scale functional mapping of the mammalian whole brain with in vivo Perturb-seq.bioRxiv : the preprint server for biology · 2026Article
- Engineering a Perfusion Bioreactor System for hiPSC-Derived Progenitor Co-Culture Capturing Microglial Features in CNS Development.Biotechnology and bioengineering · 2026Article
- MEF2C: A Novel Transcription Factor Implicated in Human Malignant Tumors.Current topics in medicinal chemistry · 2026Review
- Single-Nucleus RNA Sequencing Reveals Mid-Gestational Neurodevelopment Features in the Superior Temporal Plane from Fetuses with Nonsyndromic Cleft Lip and Palate.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Glucocorticoid receptor epigenetic activity in the heart.Epigenetics · 2025Review
- Targeted complement inhibition ameliorates the pathological and cognitive outcomes in repetitive mild closed head injury.Signal transduction and targeted therapy · 2025Article
- Genetic Mechanisms of Experience-Dependent Neuronal Plasticity.Annual review of genetics · 2025Review
- Transcriptional and epigenetic targets of MEF2C in human microglia contribute to cellular functions related to autism risk and age-related disease.Nature immunology · 2025Article
- Unveiling genetic architecture of white matter microstructure through unsupervised deep representation learning of fractional anisotropy maps.Research square · 2025Article
- Mutations in the spliceosomal gene SNW1 cause neurodevelopment disorders with microcephaly.The Journal of clinical investigation · 2025Article
- Dysregulation of miRNA expression and excitation in MEF2C autism patient hiPSC-neurons and cerebral organoids.Molecular psychiatry · 2025Article
Corrections and comments
- Erratum issuedErratum.2023
Authors and funding
15 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundMicrodeletions of the MEF2C gene are linked to a syndromic form of autism termed MEF2C haploinsufficiency syndrome (MCHS). MEF2C hypofunction in neurons is presumed to underlie most of the symptoms of MCHS. However, it is unclear in which cell populations MEF2C functions to regulate neurotypical development.
methodsMultiple biochemical, molecular, electrophysiological, behavioral, and transgenic mouse approaches were used to characterize MCHS-relevant synaptic, behavioral, and gene expression changes in mouse models of MCHS.
resultsWe showed that MCHS-associated missense mutations cluster in the conserved DNA binding domain and disrupt MEF2C DNA binding. DNA binding-deficient global Mef2c heterozygous mice (Mef2c-Het) displayed numerous MCHS-related behaviors, including autism-related behaviors, changes in cortical gene expression, and deficits in cortical excitatory synaptic transmission. We detected hundreds of dysregulated genes in Mef2c-Het cortex, including significant enrichments of autism risk and excitatory neuron genes. In addition, we observed an enrichment of upregulated microglial genes, but this was not due to neuroinflammation in the Mef2c-Het cortex. Importantly, conditional Mef2c heterozygosity in forebrain excitatory neurons reproduced a subset of the Mef2c-Het phenotypes, while conditional Mef2c heterozygosity in microglia reproduced social deficits and repetitive behavior.
conclusionsTaken together, our findings show that mutations found in individuals with MCHS disrupt the DNA-binding function of MEF2C, and DNA binding-deficient Mef2c global heterozygous mice display numerous MCHS-related phenotypes, including excitatory neuron and microglia gene expression changes. Our findings suggest that MEF2C regulates typical brain development and function through multiple cell types, including excitatory neuronal and neuroimmune populations.
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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.