From neural development to cognition: unexpected roles for chromatin
TLDR
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.Abstract:
Recent genome-sequencing studies in human neurodevelopmental and psychiatric disorders have revealed mutations in chromatin-modifying enzymes, such as chromatin remodellers and histone-modifying enzymes. Such studies are improving our understanding of the roles of these modifiers in human neurodevelopment, and this article discusses the emerging roles for several of these enzymes in development and disease.read more
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神经系统表观遗传进展 Epigenetics Advances in the Nervous System
TL;DR: New discoveries show that the CNS-related behaviors, CNS disorders, neural plasticity, neurotoxicity, drug addiction and other neurological disorders are related to the underlying epigenetic mechanisms.
Posted ContentDOI
Heterozygous mutation to Chd8 causes macrocephaly and widespread alteration of neurodevelopmental transcriptional networks in mouse
Andrea Gompers,Linda Su-Feher,Jacob Ellegood,Tyler W. Stradleigh,Iva Zdilar,Nycole A. Copping,Michael C. Pride,Melanie D. Schaffler,M. Asrafuzzaman Riyadh,Gaurav Kaushik,Brandon J. Mannion,Ingrid Plajzer-Frick,Veena Afzal,Axel Visel,Len A. Pennacchio,Diane E. Dickel,Jason P. Lerch,Jacqueline N. Crawley,Konstantinos Zarbalis,Jill L. Silverman,Alexander Nord +20 more
TL;DR: It is shown that Chd8+/− mice exhibit neurodevelopmental changes paralleling CHD8-/− humans and that ChD8 is a global genomic regulator of pathways disrupted in neuro developmental disorders.
References
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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.
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