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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

Synaptic, transcriptional and chromatin genes disrupted in autism

Silvia De Rubeis, +99 more
- 13 Nov 2014 - 
TL;DR: Using exome sequencing, it is shown that analysis of rare coding variation in 3,871 autism cases and 9,937 ancestry-matched or parental controls implicates 22 autosomal genes at a false discovery rate of < 0.05, plus a set of 107 genes strongly enriched for those likely to affect risk (FDR < 0.30).
Journal ArticleDOI

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals

James J. Lee, +94 more
- 23 Jul 2018 - 
TL;DR: A joint (multi-phenotype) analysis of educational attainment and three related cognitive phenotypes generates polygenic scores that explain 11–13% of the variance ineducational attainment and 7–10% ofthe variance in cognitive performance, which substantially increases the utility ofpolygenic scores as tools in research.

Genome-wide association study identifies 74 loci associated with educational attainment

Aysu Okbay, +254 more
Journal ArticleDOI

Integrative Functional Genomic Analyses Implicate Specific Molecular Pathways and Circuits in Autism

Neelroop N. Parikshak, +7 more
- 21 Nov 2013 - 
TL;DR: It is shown that the patterns of ASD and ID risk genes are distinct, providing a biological framework for further investigating the pathophysiology of ASD.
Journal ArticleDOI

Advancing the understanding of autism disease mechanisms through genetics

Luis de la Torre-Ubieta, +3 more
- 01 Apr 2016 - 
TL;DR: Current understanding of the genetic architecture of ASD is reviewed and genetic evidence, neuropathology and studies in model systems with how they inform mechanistic models of ASD pathophysiology are integrated.
References
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Journal ArticleDOI

Brain Development, IX

Jay N. Giedd
- 01 Jan 1999 - 
Journal ArticleDOI

In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of SMARCA2 in Three Patients with Nicolaides-Baraitser Syndrome

D. Wolff, +9 more
- 16 Mar 2012 - 
TL;DR: High-resolution molecular karyotyping with SNP arrays identified a 32-kb de novo in-frame deletion of the C-terminal helicase domain of the SMARCA2 gene in a patient with severe intellectual disability, epilepsy, sparse hair, prominent joints, and distinct facial anomalies.
Journal ArticleDOI

Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies

Hyung Goo Kim, +36 more
- 13 Jul 2012 - 
TL;DR: The finding that disruption of PHF21A by translocations in the PSS region is associated with ID adds to the growing list of ID-associated genes that emphasize the critical role of transcriptional regulation and chromatin remodeling in normal brain development and cognitive function.
Journal ArticleDOI

The chromatin remodeling factor Bap55 functions through the TIP60 complex to regulate olfactory projection neuron dendrite targeting

Joy S. Tea, +1 more
- 01 Feb 2011 - 
TL;DR: It is found that loss of Brahma associated protein 55 kD (Bap55) results in a highly specific PN mistargeting phenotype, which suggests that Bap55 functions through the TIP60 chromatin remodeling complex to regulate dendrite wiring specificity in PNs.
Journal ArticleDOI

A Balanced Translocation t(6;14)(q25.3;q13.2) Leading to Reciprocal Fusion Transcripts in a Patient with Intellectual Disability and Agenesis of Corpus Callosum

Liesbeth Backx, +4 more
- 01 Jan 2011 - 
TL;DR: Experimental results suggest that ARID1B, a gene involved in chromatin remodeling, constitutes a good candidate for the central nervous system phenotype present in the patient.
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Synaptic, transcriptional and chromatin genes disrupted in autism

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