Germline Chd8 haploinsufficiency alters brain development in mouse

Gompers, Andrea L.; Su-Feher, Linda; Ellegood, Jacob; Copping, Nycole A.; Riyadh, M. Asrafuzzaman; Stradleigh, Tyler W.; Pride, Michael C.; Schaffler, Melanie D.; Wade, A. Ayanna; Catta-Preta, Rinaldo; Zdilar, Iva; Louis, Shreya; Kaushik, Gaurav; Mannion, Brandon J.; Plajzer-Frick, Ingrid; Afzal, Veena; Visel, Axel; Pennacchio, Len A.; Dickel, Diane E.; Lerch, Jason P.; Crawley, Jacqueline N.; Zarbalis, Konstantinos S.; Silverman, Jill L.; Nord, Alex S.

doi:10.1038/nn.4592

Germline Chd8 haploinsufficiency alters brain development in mouse

Journal Article · Mon Jun 26 00:00:00 EDT 2017 · Nature Neuroscience

DOI:https://doi.org/10.1038/nn.4592· OSTI ID:1436635

Gompers, Andrea L. ^[1]; ^[1]; Ellegood, Jacob ^[2]; Copping, Nycole A. ^[3]; Riyadh, M. Asrafuzzaman ^[4]; Stradleigh, Tyler W. ^[1]; Pride, Michael C. ^[3]; Schaffler, Melanie D. ^[3]; ^[1]; ^[1]; Zdilar, Iva ^[1]; ^[1]; Kaushik, Gaurav ^[4]; Mannion, Brandon J. ^[5]; Plajzer-Frick, Ingrid ^[5]; Afzal, Veena ^[5]; ^[6]; Pennacchio, Len A. ^[7]; Dickel, Diane E. ^[5]; Lerch, Jason P. ^[8] more »

Univ. of California, Davis, CA (United States). Dept. of Psychiatry and Behavioral Sciences. Dept. of Neurobiology, Physiology and Behavior
The Hospital for Sick Children, Toronto, ON (Canada). Mouse Imaging Centre
Univ. of California, Davis, CA (United States). Dept. of Psychiatry and Behavioral Sciences. MIND Inst. School of Medicine
Univ. of California, Davis, Sacramento, CA (United States). Dept. of Pathology and Laboratory Medicine. Shriners Hospitals for Children. Inst. for Pediatric Regenerative Medicine
Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States). Functional Genomics Dept.
Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States). Functional Genomics Dept.; USDOE Joint Genome Institute (JGI), Walnut Creek, CA (United States); Univ. of California, Merced, CA (United States). School of Natural Sciences
Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States). Functional Genomics Dept.; USDOE Joint Genome Institute (JGI), Walnut Creek, CA (United States)
The Hospital for Sick Children, Toronto, ON (Canada). Mouse Imaging Centre; Univ. of Toronto, ON (Canada). Dept. of Medical Biophysics

The chromatin remodeling gene CHD8 represents a central node in neurodevelopmental gene networks implicated in autism. In this paper, we examined the impact of germline heterozygous frameshift Chd8 mutation on neurodevelopment in mice. Chd8⁺/^del5 mice displayed normal social interactions with no repetitive behaviors but exhibited cognitive impairment correlated with increased regional brain volume, validating that phenotypes of Chd8⁺/^del5 mice overlap pathology reported in humans with CHD8 mutations. We applied network analysis to characterize neurodevelopmental gene expression, revealing widespread transcriptional changes in Chd8⁺/^del5 mice across pathways disrupted in neurodevelopmental disorders, including neurogenesis, synaptic processes and neuroimmune signaling. We identified a co-expression module with peak expression in early brain development featuring dysregulation of RNA processing, chromatin remodeling and cell-cycle genes enriched for promoter binding by Chd8, and we validated increased neuronal proliferation and developmental splicing perturbation in Chd8⁺/^del5 mice. Finally, this integrative analysis offers an initial picture of the consequences of Chd8 haploinsufficiency for brain development.

View Accepted Manuscript (DOE)

Research Organization:: Lawrence Berkeley National Laboratory (LBNL), Berkeley, CA (United States)

Sponsoring Organization:: Canadian Inst. for Health Research (CIHR); National Council for Scientific and Technological Development (CNPq) (Brazil); National Inst. of Health (NIH) (United States); USDOE; Univ. of California, Davis (United States)

Grant/Contract Number:: AC02-05CH11231

OSTI ID:: 1436635

Journal Information:: Nature Neuroscience, Journal Name: Nature Neuroscience Journal Issue: 8 Vol. 20; ISSN 1097-6256

Publisher:: Springer NatureCopyright Statement

Country of Publication:: United States

Language:: English

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