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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

BRPF1 is essential for development of fetal hematopoietic stem cells

TL;DR: An essential role of the multivalent chromatin regulator BRPF1 is identified in definitive hematopoiesis and a potentially new avenue for studying epigenetic networks that govern HSC ontogeny is illuminated.
Journal ArticleDOI

Non-targeted metabolomics of Brg1/Brm double-mutant cardiomyocytes reveals a novel role for SWI/SNF complexes in metabolic homeostasis

TL;DR: Novel metabolomics findings provide insight into SWI/SNF-regulated metabolic pathways and will guide mechanistic studies evaluating the role of SWI-SNF complexes in homeostasis and cardiovascular disease prevention.
Posted ContentDOI

Visualizing Transitions and Structure for High Dimensional Data Exploration

TL;DR: The global picture of the system offered by PHATE allows us to connect parts of the developmental progression and characterize novel regulators associated with developmental lineages, and the effectiveness of the produced visualization in revealing insights on a wide variety of biomedical data, as well as non-biomedical data, such as facebook network and facial image data.
Journal ArticleDOI

HDAC4 in ischemic stroke: mechanisms and therapeutic potential.

TL;DR: The dysregulation of HDAC4 in ischemic stroke and the role of dysregulated HDAC 4 in the pathogenesis of ischeMIC stroke are reviewed and the therapeutic potential of modulating HDAC5 in isChemic stroke is discussed.
Book ChapterDOI

Early Development of the Spiral Ganglion

TL;DR: Embryological observations together with analysis at the molecular level have uncovered the origin of spiral ganglion neurons and detailed the series of events that underlie their differentiation.
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
- 13 Nov 2014 -