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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

The Mendelian disorders of the epigenetic machinery

TL;DR: Two of the Mendelian disorders of the epigenetic machinery have shown post-natal rescue of markers of the neurological dysfunction with drugs that lead to histone deacetylase inhibition, indicating that some of these disorders may be treatable causes of intellectual disability.
Journal ArticleDOI

SWI/SNF Complex Prevents Lineage Reversion and Induces Temporal Patterning in Neural Stem Cells

TL;DR: It is shown that Osa induces a transcriptional program in the transit-amplifying population that initiates temporal patterning, limits self-renewal, and prevents dedifferentiation, and the Prdm protein Hamlet is identified as a key component of this program.
Journal ArticleDOI

The role of BAF (mSWI/SNF) complexes in mammalian neural development

TL;DR: The BAF (mammalian SWI/SNF) complexes are a family of multi‐subunit ATP‐dependent chromatin remodelers that use ATP hydrolysis to alter chromatin structure that are essential for neural development, homeostasis, and plasticity.
Journal ArticleDOI

Epigenetic mechanisms in schizophrenia

TL;DR: Gene-scale mapping of DMA methylation, histone modifications and variants, and chromosomal loopings for promoter-enhancer interactions and other epigenetic determinants of genome organization and function are likely to provide important clues about mechanisms contributing to dysregulated expression of synaptic and metabolic genes in schizophrenia brain.
Journal ArticleDOI

Characterizing Protein–Protein Interactions Using Mass Spectrometry: Challenges and Opportunities

TL;DR: The need to miniaturize workflows to analyze protein interactions in biological and pathological contexts where sample amounts are limited is emphasized.
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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