Autism-associated CHD8 deficiency impairs axon development and migration of cortical neurons.

ABSTRACT:

Background

Mutations in CHD8, chromodomain helicase DNA-binding protein 8, are among the most replicated and common findings in genetic studies of autism spectrum disorder (ASD). The CHD8 protein is believed to act as a transcriptional regulator by remodeling chromatin structure and recruiting histone H1 to target genes. The mechanism by which deficiency of CHD8 causes ASD has not been fully elucidated.

Methods

We examined the expression of CHD8 in human and mouse brains using both immunohistochemistry and RNA in situ hybridization. We performed in utero electroporation, neuronal culture, and biochemical analysis using RNAi to examine the functional consequences of CHD8 deficiency.

Results

We discovered that CHD8 is expressed highly in neurons and

SUBMITTER: Xu Q 

PROVIDER: S-EPMC6299922 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature