Mutations and Modeling of the Chromatin Remodeler CHD8 Define an Emerging Autism Etiology.

ABSTRACT: Autism Spectrum Disorder (ASD) is a common neurodevelopmental disorder with a strong but complex genetic component. Recent family based exome-sequencing strategies have identified recurrent de novo mutations at specific genes, providing strong evidence for ASD risk, but also highlighting the extreme genetic heterogeneity of the disorder. However, disruptions in these genes converge on key molecular pathways early in development. In particular, functional enrichment analyses have found that there is a bias toward genes involved in transcriptional regulation, such as chromatin modifiers. Here we review recent genetic, animal model, co-expression network, and functional genomics studies relating to the high confidence ASD risk gene, CHD8. CHD8, a chromatin remodeling factor, may serve as a "m

SUBMITTER: Barnard RA 

PROVIDER: S-EPMC4681771 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature