ArticleCell reports2023
Distinct disease mutations in DNMT3A result in a spectrum of behavioral, epigenetic, and transcriptional deficits.
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Article in Cell reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16citing papers in PubMed
2.8field-weighted citation impact, top 9% of its field
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Who cites it
16 citing papers in PubMed, 18 citations in OpenAlex.
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- MeCP2 and non-CG DNA methylation stabilize the expression of long genes that distinguish closely related neuron types.Nature neuroscience · 2025Article
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- DNA methylation regulator-mediated modification patterns and risk of intracranial aneurysm: a multi-omics and epigenome-wide association study integrating machine learning, Mendelian randomization, eQTL and mQTL data.Journal of translational medicine · 2023Article
- Epilepsy and overgrowth-intellectual disability syndromes: a patient organization perspective on collaborating to accelerate pathways to treatment.Therapeutic advances in rare diseaseReview
- Article
Corrections and comments
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Authors and funding
23 authors at 2 institutions in 1 country.
Diana C BeardDepartment of Neuroscience, Washington University School of Medicine, St. Louis, MO 63110, USA.
Xiyun ZhangDepartment of Neuroscience, Washington University School of Medicine, St. Louis, MO 63110, USA.
Dennis Y WuDepartment of Neuroscience, Washington University School of Medicine, St. Louis, MO 63110, USA.
Jenna R MartinDepartment of Neuroscience, Washington University School of Medicine, St. Louis, MO 63110, USA.
Alyssa EricksonDepartment of Neuroscience, Washington University School of Medicine, St. Louis, MO 63110, USA.
Jane Valeriane BouaDepartment of Neuroscience, Washington University School of Medicine, St. Louis, MO 63110, USA.
Nicole HamagamiDepartment of Neuroscience, Washington University School of Medicine, St. Louis, MO 63110, USA.
Raylynn G SwiftDepartment of Psychiatry, Washington University School of Medicine, St. Louis, MO 63110, USA; Department of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Katherine B McCulloughDepartment of Psychiatry, Washington University School of Medicine, St. Louis, MO 63110, USA; Department of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Xia GeDepartment of Radiology, Washington University School of Medicine, St. Louis, MO 63110, USA; Intellectual and Developmental Disabilities Research Center, Washington University School of Medicine, St. Louis, MO 63110, USA.
Austin Bell-HensleyDepartment of Biomedical Engineering, Washington University, St. Louis, MO 63110, USA; Department of Orthopedic Surgery, Washington University School of Medicine, St. Louis, MO 63110, USA.
Hongjun ZhengDepartment of Orthopedic Surgery, Washington University School of Medicine, St. Louis, MO 63110, USA.
Cory W PalmerDepartment of Psychiatry, Washington University School of Medicine, St. Louis, MO 63110, USA; Intellectual and Developmental Disabilities Research Center, Washington University School of Medicine, St. Louis, MO 63110, USA.
Nicole A FuhlerDepartment of Psychiatry, Washington University School of Medicine, St. Louis, MO 63110, USA; Intellectual and Developmental Disabilities Research Center, Washington University School of Medicine, St. Louis, MO 63110, USA.
Austin B LawrenceDepartment of Pathology and Anatomical Science, University of Missouri School of Medicine, Columbia, MO 65212, USA.
Cheryl A HillDepartment of Pathology and Anatomical Science, University of Missouri School of Medicine, Columbia, MO 65212, USA.
Thomas PapouinDepartment of Neuroscience, Washington University School of Medicine, St. Louis, MO 63110, USA.
Kevin K NoguchiDepartment of Psychiatry, Washington University School of Medicine, St. Louis, MO 63110, USA; Intellectual and Developmental Disabilities Research Center, Washington University School of Medicine, St. Louis, MO 63110, USA.
Audrey McAlindenDepartment of Orthopedic Surgery, Washington University School of Medicine, St. Louis, MO 63110, USA.
Joel R GarbowDepartment of Radiology, Washington University School of Medicine, St. Louis, MO 63110, USA; Intellectual and Developmental Disabilities Research Center, Washington University School of Medicine, St. Louis, MO 63110, USA.
Joseph D DoughertyDepartment of Psychiatry, Washington University School of Medicine, St. Louis, MO 63110, USA; Department of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA; Intellectual and Developmental Disabilities Research Center, Washington University School of Medicine, St. Louis, MO 63110, USA.
Susan E MaloneyDepartment of Psychiatry, Washington University School of Medicine, St. Louis, MO 63110, USA; Intellectual and Developmental Disabilities Research Center, Washington University School of Medicine, St. Louis, MO 63110, USA.
Harrison W GabelDepartment of Neuroscience, Washington University School of Medicine, St. Louis, MO 63110, USA; Intellectual and Developmental Disabilities Research Center, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address: gabelh@wustl.edu.
Washington University in St. Louis · USUniversity of Missouri · US
Funding
NATIONAL RESEARCH SERVICE AWARD-MEDICAL SCIENTISTT32GM007200 · NIGMS · WASHINGTON UNIVERSITY · PI YOKOYAMA, WAYNE M. · 1985 to 2024
$59.8MWUIDDRC Supplement-Supporting the health and well-being of children with intellectual and developmental disability during COVID-19 pandemicP50HD103525 · NICHD · WASHINGTON UNIVERSITY · PI JEFFREY D MILBRANDT · 2020 to 2026
$15.5MSIGNAL TRANSDUCTION PATHWAYS REGULATING NEURON SURVIVALR01NS041021 · NINDS · WASHINGTON UNIVERSITY · PI GABEL, HARRISON W · 2001 to 2023
$7.7MMECHANISMS OF EPIGENETIC REGULATION IN NERVOUS SYSTEM DEVELOPMENTR01MH117405 · NIMH · WASHINGTON UNIVERSITY · PI Harrison W Gabel · 2019 to 2026
$3.9MNeuroscience Training Program at Washington UniversityT32NS121881 · NINDS · WASHINGTON UNIVERSITY · PI Martha W Bagnall, Daniel Kerschensteiner · 2021 to 2026
$3.1MMicroRNA regulation of bone formation and repairR01AR075730 · NIAMS · WASHINGTON UNIVERSITY · PI MCALINDEN, AUDREY · 2020 to 2024
$2.4MDissecting the mechanism and function of DNMT3A in neural developmentF31HD100098 · NICHD · WASHINGTON UNIVERSITY · PI BEARD, DIANA CHRISTIAN · 2020 to 2021
$63kNIAMS NIH HHS R01 AR075730NICHD NIH HHS F31 HD100098NICHD NIH HHS P50 HD103525NIGMS NIH HHS T32 GM007200NIMH NIH HHS R01 MH117405NINDS NIH HHS R01 NS041021NINDS NIH HHS T32 NS121881
Abstract
Phenotypic heterogeneity in monogenic neurodevelopmental disorders can arise from differential severity of variants underlying disease, but how distinct alleles drive variable disease presentation is not well understood. Here, we investigate missense mutations in DNA methyltransferase 3A (DNMT3A), a DNA methyltransferase associated with overgrowth, intellectual disability, and autism, to uncover molecular correlates of phenotypic heterogeneity. We generate a Dnmt3a
Indexed as
DNA (Cytosine-5-)-MethyltransferasesDNA Methyltransferase 3AAnimalsEpigenesis, GeneticEpigenomicsMiceMutationDNA (Cytosine-5-)-MethyltransferasesDNA Methyltransferase 3ADnmt3a protein, mouseASDCP: NeuroscienceDNA methylationDNMT3AenhancerheterogeneitymCAMeCP2NDDneurodevelopmentnon-CpG
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