DNMT3A Haploinsufficiency Results in Behavioral Deficits and Global Epigenomic Dysregulation Shared across Neurodevelopmental Disorders

Diana L. Christian, Dennis Y. Wu, Jenna R. Martin, J. Russell Moore, Yiran R. Liu, Adam W. Clemens, Sabin A. Nettles, Nicole M. Kirkland, Thomas Papouin, Cheryl A. Hill, David F. Wozniak, Joseph D. Dougherty, Harrison W. Gabel

Research output: Contribution to journalArticlepeer-review

29 Scopus citations


Christian et al. find that neurodevelopmental disease-associated DNMT3A mutations have shared neuronal DNA methylation deposition deficits. DNMT3AKO/+ mice display reduced global non-CG DNA methylation, behavior, and growth phenotypes relevant to human disease. Transcriptomic and epigenomic changes in these mice overlap models of Rett syndrome and autism, suggesting convergent pathology.

Original languageEnglish (US)
Article number108416
JournalCell Reports
Issue number8
StatePublished - Nov 24 2020


  • Autism
  • DNA methylation
  • DNMT3A
  • MeCP2
  • Rett Syndrome
  • TBRS
  • cerebral cortex
  • enhancer
  • intellectual disability
  • non-CG methylation

ASJC Scopus subject areas

  • General Biochemistry, Genetics and Molecular Biology

Cite this