@article{dee6c2c6a8484dc3a3ded79ac080be67,
title = "DNMT3A Haploinsufficiency Results in Behavioral Deficits and Global Epigenomic Dysregulation Shared across Neurodevelopmental Disorders",
abstract = "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.",
keywords = "Autism, cerebral cortex, DNA methylation, DNMT3A, enhancer, intellectual disability, MeCP2, non-CG methylation, Rett Syndrome, TBRS",
author = "Christian, {Diana L.} and Wu, {Dennis Y.} and Martin, {Jenna R.} and Moore, {J. Russell} and Liu, {Yiran R.} and Clemens, {Adam W.} and Nettles, {Sabin A.} and Kirkland, {Nicole M.} and Thomas Papouin and Hill, {Cheryl A.} and Wozniak, {David F.} and Dougherty, {Joseph D.} and Gabel, {Harrison W.}",
note = "Funding Information: We thank J. Hoisington-Lopez and M. Crosby at the Center for Genome Sciences for sequencing support; S. Maloney, K. McCullough, and M. Rieger for assistance with USV experiments; and J. Edwards, J. Goodman, J. Yi, A. Smith, and T. Ley for discussions. We thank our funding sources: NIH-NCRR award UL1RR024992; NIH-NIGMS award T32GM008151 and NIH-NICHD award F31HD100098 (to D.L.C.); NIH-NINDS award F31NS108574 (to A.W.C.); grants from the Klingenstein-Simons Fellowship Fund, the Mathers Foundation, the Brain and Behavior Research Foundation, and the Simons Foundation Autism Research Initiative; and NIH-NIMH R01MH117405 (to H.W.G.). Conceptualization and Methodology, D.L.C. D.Y.W. and H.W.G.; Formal Analysis, D.L.C. D.Y.W. A.W.C. J.R. Martin, J.R. Moore, N.M.K. C.A.H. T.P. D.F.W. and J.D.D.; Investigation, D.L.C. J.R. Martin, Y.R.L. A.W.C. J.R. Moore, S.A.N. N.M.K. and C.A.H.; Writing ? Original Draft, D.L.C. D.Y.W. and H.W.G.; Writing ? Review & Editing, all authors. The authors declare no competing interests. Publisher Copyright: {\textcopyright} 2020 The Authors",
year = "2020",
month = nov,
day = "24",
doi = "10.1016/j.celrep.2020.108416",
language = "English (US)",
volume = "33",
journal = "Cell Reports",
issn = "2211-1247",
publisher = "Cell Press",
number = "8",
}