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Nat Rev Genet. 2013 May;14(5):347-59. doi: 10.1038/nrg3413. Epub 2013 Apr 9.

From neural development to cognition: unexpected roles for chromatin.

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Stanford University, Stanford, California 94305, USA.

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  • Nat Rev Genet. 2013 Jun;14(6):440.


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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