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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The Emerging Field of Neuroepigenetics
TL;DR: This brief commentary will attempt to address and delineate some of the open questions and areas of opportunity that discoveries in epigenetics are providing to the discipline of neuroscience.
Journal ArticleDOI
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP
Céline Helsmoortel,Anneke T. Vulto-van Silfhout,Bradley P. Coe,Geert Vandeweyer,Liesbeth Rooms,Jenneke van den Ende,Janneke H M Schuurs-Hoeijmakers,Carlo Marcelis,Marjolein H. Willemsen,Lisenka E.L.M. Vissers,Helger G Yntema,Madhura Bakshi,Meredith Wilson,Kali Witherspoon,Helena Malmgren,Ann Nordgren,Göran Annerén,Marco Fichera,Paolo Bosco,Corrado Romano,Bert Ba de Vries,Tjitske Kleefstra,R. Frank Kooy,Evan E. Eichler,Nathalie Van der Aa +24 more
TL;DR: Ten patients with ASD and other shared clinical characteristics are reported, including intellectual disability and facial dysmorphisms caused by a mutation in ADNP, a transcription factor involved in the SWI/SNF remodeling complex, making it one of the most frequent ASD-associated genes known to date.
Journal ArticleDOI
Regulation of chromatin and gene expression by metabolic enzymes and metabolites
TL;DR: Metabolism feeds into gene regulation, allowing adaptation of gene expression to satisfy cellular needs, including in pathological scenarios such as cancer.
Journal ArticleDOI
The discovery of integrated gene networks for autism and related disorders
TL;DR: A computational method that simultaneously integrates protein-protein interactions and RNA-seq expression profiles during brain development to discover "modules" enriched for de novo mutations in probands is developed, suggesting a core set of integrated neurodevelopmental networks common to seemingly diverse human diseases.
Journal ArticleDOI
Epigenetic Basis of Mental Illness
Eric J. Nestler,Catherine Jensen Pena,Marija Kundakovic,Amanda C. Mitchell,Schahram Akbarian +4 more
TL;DR: A progress report of epigenetic studies of the three major psychiatric syndromes, depression, schizophrenia, and bipolar disorder is provided, derived from animal models of these disorders as well as from studies of postmortem brain tissue from human patients.
References
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