Cited by 544Genetics and Neurodevelopmental DisordersChromatin Remodeling and CancerGenomics and Chromatin Dynamics

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From neural development to cognition: unexpected roles for chromatin

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Ronan, Jehnna L., Wu, Wei, Crabtree, Gerald R.·2013·Nature Reviews Genetics

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Abstract

Recent genome-sequencing studies in human neurodevelopmental and psychiatric disorders have uncovered mutations in many chromatin regulators. These human genetic studies, along with studies in model organisms, are providing insight into chromatin regulatory mechanisms in neural development and how alterations to these mechanisms can cause cognitive deficits, such as intellectual disability. We discuss several implicated chromatin regulators, including BAF (also known as SWI/SNF) and CHD8 chromatin remodellers, HDAC4 and the Polycomb component EZH2. Interestingly, mutations in EZH2 and certain BAF complex components have roles in both neurodevelopmental disorders and cancer, and overlapping point mutations are suggesting functionally important residues and domains. We speculate on the contribution of these similar mutations to disparate disorders.

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Authors: Ronan, J. L., Wu, W., & Crabtree, G. R.
Affiliations: Stanford University (US)
Corresponding author: Crabtree, Gerald R.
ORCID: Wu, Wei
Crabtree, Gerald R.
Venue: Nature Reviews Genetics
Publisher: Springer Science and Business Media LLC
Published: 2013-04-09
Volume: 14
Issue: 5
Pages: 347-359
ISSN: 1471-0056 (ISSN-L)
1471-0064
DOI: 10.1038/nrg3413
PMC: PMC4010428
OpenAlex: W2060429763
Cited by: 544
References: 130
Citations by year: 2026: 18 · 2025: 18 · 2024: 22 · 2023: 31 · 2022: 25 · 2021: 36 · 2020: 48 · 2019: 42 · 2018: 90 · 2017: 44 · 2016: 43 · 2015: 47 · 2014: 58 · 2013: 21
FWCI: 6.93
Type: journal article
Language: en
Update notices: erratum (2013-05-09)
Open access: green
www.ncbi.nlm.nih.gov
Licence: www.springer.com/tdm (tdm)
www.springer.com/tdm (vor)
Locations: Nature Reviews Genetics (publishedVersion)
PubMed (publishedVersion)
Europe PMC (PubMed Central) (acceptedVersion)
PubMed Central (acceptedVersion)
Funders: Howard Hughes Medical Institute
California Institute for Regenerative Medicine
California Institute of Regenerative Medicine
National Institutes of Health
National Cancer Institute (CA163915, R01CA163915)
National Institute of Neurological Disorders and Stroke (NS046789, R01NS046789, R37NS046789)
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 › Molecular Biology › Genomics and Chromatin Dynamics
Keywords: chromatin regulation, neural development, neurodevelopmental disorders, mental illness, chromatin remodellers, histone-modifying enzymes, SWI/SNF complex, CHD8, HDAC4, EZH2, Polycomb, intellectual disability, cognitive impairment, cancer mutations
MeSH terms: Enhancer of Zeste Homolog 2 Protein, Animals, Chromatin, Cognition, DNA-Binding Proteins, Histone Deacetylases, Humans, Intellectual Disability, Mutation, Neurons, Nuclear Proteins, Repressor Proteins, Transcription Factors, Chromatin Assembly and Disassembly, Neurogenesis, Polycomb Repressive Complex 2

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From neural development to cognition: unexpected roles for chromatin

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