Abstract
Chromodomain-helicase-DNA-binding protein 8 (CHD8) has been identified as one of the genes with the strongest association with autism. The CHD8 protein is a transcriptional regulator that is expressed in nearly all cell types and has been implicated in multiple cellular processes, including cell cycle, cell adhesion, neuronal development, myelination, and synaptogenesis. Considering the central role of CHD8 in the genetics of autism, a deeper understanding of the physiological functions of CHD8 is important to understand the development of the autism phenotype and potential therapeutic targets. Different CHD8 mutant mouse models were developed to determine autism-like phenotypes and to fully understand their mechanisms. Here, we review the current knowledge on CHD8, with an emphasis on mechanistic lessons gained from animal models that have been studied.
Highlights
Introduction to AutismAutism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder characterized by impaired sociability and language development, and repetitive and stereotypic behaviors
Chromodomain-helicase-DNA-binding protein 8 (CHD8) was first linked to ASD about a decade ago, when de novo mutations were first identified in two ASD children (Table S1) [21]
We first review the major studies that have looked into basic molecular functions of CHD8, and review all major studies that have gained knowledge of its function in neurodevelopment and ASD through nonmammalian and mammalian animal studies
Summary
Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder characterized by impaired sociability and language development, and repetitive and stereotypic behaviors. Autism has a strong genetic etiology, including involvement of chromatin rearrangements, de novo mutations, and common variants [1,2,3]. An interaction of multiple genetic factors and environmental factors may be involved in the development of ASD [4]. The cost of treating ASD individuals including educational support, loss of parent working days, special health services, and others was USD 268 billion in 2015, and estimated to be USD 461 billion in 2025 in the USA [6,7,8]. The Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) defines autism using social communication impairment, restricted interests, and repetitive behaviors. ASD etiology is poorly understood [20], and it is accepted that it includes different subtypes induced by different etiologies and pathways, including genetic and environmental factors [12]
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
