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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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Dissertation

Mechanisms underlying the temporal and selective induction of Ptf1a target genes

Sven Richts
TL;DR: BiFC analysis and ATAC-seq suggest that Ptf1a acts as a pioneer transcription factor to activate its target genes, and suggests that target gene activation by PTF1a is likely independent of chromatin accessibility.
Journal ArticleDOI

Identification of genes responsible for the social skill in the earthworm, Eudrilus eugeniae

TL;DR: In this article , the authors harnessed the earthworm Eudrilus eugeniae as a model to understand the molecular depth of social ability using their behaviour of self-assemblage.
Journal ArticleDOI

Involvement of the H3.3 Histone Variant in the Epigenetic Regulation of Gene Expression in the Nervous System, in Both Physiological and Pathological Conditions

TL;DR: In this paper , the role of the H3.3 histone variant, with particular attention to its loading into chromatin in the mammalian nervous system, both in physiological and pathological conditions, is discussed.

Epigenetics: major regulators of embryonic neurogenesis

TL;DR: Recently, it is becoming increasingly clear that epigenetic regulation of cortical development occurs at multiple levels and that compre- hensive knowledge of this complex regulatory landscape is essential to delineating embryonic neurogenesis as mentioned in this paper.
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 -