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Open AccessJournal ArticleDOI

From neural development to cognition: unexpected roles for chromatin

Jehnna L. Ronan, +2 more
- 01 May 2013 - 
- Vol. 14, Iss: 5, pp 347-359
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.

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Journal ArticleDOI

Replication-Independent Histone Variant H3.3 Controls Animal Lifespan through the Regulation of Pro-longevity Transcriptional Programs

TL;DR: It is concluded that H3.3 positively contributes to diverse lifespan-extending signaling pathways, with potential implications on age-related processes in multicellular organisms.
Journal ArticleDOI

The Chromodomain Helicase DNA-Binding Chromatin Remodelers: Family Traits that Protect from and Promote Cancer

TL;DR: This review highlights what is currently known about how genetic and epigenetic perturbation of CHD proteins and the pathways that they regulate set the stage for cancer, providing new insight for designing more effective anti-cancer therapies.
Book ChapterDOI

Epigenetic mechanisms in autism spectrum disorder.

TL;DR: Progress on studies designed to provide a better understanding of how epigenetic mechanisms impact transcriptional programs operative in the brain that contribute to ASD are reviewed.
References
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Journal ArticleDOI

An integrated encyclopedia of DNA elements in the human genome

TL;DR: The Encyclopedia of DNA Elements project provides new insights into the organization and regulation of the authors' genes and genome, and is an expansive resource of functional annotations for biomedical research.
Journal ArticleDOI

Translating the Histone Code

TL;DR: It is proposed that this epigenetic marking system represents a fundamental regulatory mechanism that has an impact on most, if not all, chromatin-templated processes, with far-reaching consequences for cell fate decisions and both normal and pathological development.
Journal ArticleDOI

Functions of DNA methylation: islands, start sites, gene bodies and beyond

TL;DR: Improved genome-scale mapping of methylation allows us to evaluate DNA methylation in different genomic contexts: transcriptional start sites with or without CpG islands, in gene bodies, at regulatory elements and at repeat sequences.
Journal ArticleDOI

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.

TL;DR: This study reports the first disease-causing mutations in RTT and points to abnormal epigenetic regulation as the mechanism underlying the pathogenesis of RTT.
Related Papers (5)

Patterns and rates of exonic de novo mutations in autism spectrum disorders

Synaptic, transcriptional and chromatin genes disrupted in autism

Silvia De Rubeis, +99 more
- 13 Nov 2014 -