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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

Epigenetics: Integrating Genetic Programs, Brain Development and Emergent Phenotypes

TL;DR: A review of recent developments revealing epigenetic aspects of mental illness, as well as review some of the challenges of current approaches and some future directions in the field of behavioral epigenetics can be found in this paper.
Journal ArticleDOI

Epigenetic regulators sculpt the plastic brain

TL;DR: Activity-dependent epigenetic mechanisms of gene expression regulation contribute to basic neuronal physiology, and defects were associated with an elevated risk for brain disorders.
Journal ArticleDOI

The Essential Role of Epigenetic Modifications in Neurodegenerative Diseases with Dyskinesia.

TL;DR: In this paper, the role of epigenetic modifications in neurodegenerative diseases with dyskinesia and discusses the therapeutic potential of the epigenetic drugs in the treatment of these diseases.
Journal ArticleDOI

Regulation of proliferation and histone acetylation in embryonic neural precursors by CREB/CREM signaling

TL;DR: A crucial role of CREB in controlling embryonic neurogenesis is supported and a novel mechanism by which CREB regulates embryonic neural development is proposed, which could be caused by a reduced acetyltransferase activity in Creb conditional knock-out mice.
Book ChapterDOI

Gene Networks in Neuropsychiatric Disease

TL;DR: How gene networks offer a robust framework for understanding neurodevelopment and neurodevelopmental disease is discussed, focusing on autism spectrum disorder (ASD) and schizophrenia (SCZ).
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.
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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
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