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Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment
Open accessAbstract
Sequencing studies have implicated haploinsufficiency of ARID1B , a SWI/SNF chromatin-remodeling subunit, in short stature (Yu et al., 2015), autism spectrum disorder (O'Roak et al., 2012), intellectual disability (Deciphering Developmental Disorders Study, 2015), and corpus callosum agenesis (Halgren et al., 2012). In addition, ARID1B is the most common cause of Coffin-Siris syndrome, a developmental delay syndrome characterized by some of the above abnormalities (Santen et al., 2012; Tsurusaki et al., 2012; Wieczorek et al., 2013). We generated Arid1b heterozygous mice, which showed social behavior impairment, altered vocalization, anxiety-like behavior, neuroanatomical abnormalities, and growth impairment. In the brain, Arid1b haploinsufficiency resulted in changes in the expression of SWI/SNF-regulated genes implicated in neuropsychiatric disorders. A focus on reversible mechanisms identified Insulin-like growth factor (IGF1) deficiency with inadequate compensation by Growth hormone-releasing hormone (GHRH) and Growth hormone (GH), underappreciated findings in ARID1B patients. Therapeutically, GH supplementation was able to correct growth retardation and muscle weakness. This model functionally validates the involvement of ARID1B in human disorders, and allows mechanistic dissection of neurodevelopmental diseases linked to chromatin-remodeling.
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Metadata
- Authors
- Celen, C., Chuang, J.-C., Luo, X., Nijem, N., Walker, A. K., Chen, F., Zhang, S., Chung, A. S., Nguyen, L. H., Nassour, I., Budhipramono, A., Sun, X., Bok, L. A., McEntagart, M., Gevers, E. F., Birnbaum, S. G., Eisch, A. J., Powell, C. M., Ge, W.-P., Santen, G. W., Chahrour, M., & Zhu, H.
- Affiliations
- The University of Texas Southwestern Medical Center (US)
- Máxima Medisch Centrum (NL)
- Great Ormond Street Hospital (GB)
- Queen Mary University of London (GB)
- Children's Hospital of Philadelphia (US)
- Leiden University Medical Center (NL)
- Corresponding author
- Zhu, Hao
- ORCID
- Venue
- eLife
- Publisher
- eLife Sciences Publications, Ltd
- Published
- 2017-07-11
- Volume
- 6
- ISSN
- 2050-084X (ISSN-L)
- PMC
- PMC5515576
- OpenAlex
- W2734654523
- Cited by
- 113
- References
- 43
- Citations by year
- 2026: 7 · 2025: 5 · 2024: 18 · 2023: 11 · 2022: 14 · 2021: 19 · 2020: 22 · 2019: 8 · 2018: 6 · 2017: 2
- FWCI
- 6.88
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- eLife (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- St George's Online Research Archive (St George's University of London) (submittedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Leiden Repository (Leiden University) (submittedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- Hamon Center for Regenerative Science and Medicine (Regenerative medicine training grant)
- Postdoctoral Institutional training grant (NIDA T32-DA007290)
- HHMI International Student Research Fellowship
- National Institutes of Health (DA023701, DA023555, MH107945, R21(NS099950), 1K08CA157727)
- National Institute of Neurological Disorders and Stroke (NINDS K99/R00 (R00NS073735))
- Pollock Foundation
- National Cancer Institute (1R01CA190525)
- Burroughs Wellcome Fund
- CPRIT New Investigator Award (R1209)
- CPRIT Early Translation Grant (DP150077)
- University of Texas Southwestern Medical Center
- NARSAD Young Investigator Grant (NARSAD 24951)
- Cancer Prevention and Research Institute of Texas (RP150596)
- Barts Health NHS Trust
- Queen Mary University London
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Chromatin Remodeling and Cancer
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- ARID1B, haploinsufficiency, SWI/SNF chromatin remodeling, growth retardation, short stature, Coffin-Siris syndrome, autism spectrum disorder, intellectual disability, social behavior impairment, anxiety-like behavior, vocalizations, neuroanatomical abnormalities, growth hormone, growth hormone-releasing hormone, growth hormone supplementation, neuropsychiatric disorders, muscle weakness
- MeSH terms
- Animals, Behavior, Animal, Mental Disorders, Brain, Developmental Disabilities, Disease Models, Animal, Gene Expression Regulation, Heterozygote, Insulin-Like Growth Factor I, Growth Hormone-Releasing Hormone, Transcription Factors, Protein Serine-Threonine Kinases, Mice, Haploinsufficiency
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