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CHD8 dosage regulates transcription in pluripotency and early murine neural differentiation

Sabina Sood, Christopher M. Weber, H. Courtney Hodges, A. Krokhotin, Aryaman Shalizi, Gerald R. Crabtree

2020Proceedings of the National Academy of Sciences41 citationsDOIOpen Access PDF

Abstract

Significance The chromatin remodeler CHD8 is one of the most frequently mutated genes in autism spectrum disorder (ASD), but the mechanistic basis remains unclear. Here, we identify dosage-sensitive roles for CHD8 in the regulation of transcription and define CHD8’s role in regulating genome-wide accessibility. Importantly, we present new results that help to define the molecular function of CHD8 both in the context of pluripotency and in neural differentiation with implications for its role in ASD. By determining the execution point at which mutations in Chd8 might contribute to the disease, we hope to discover the potential for therapeutic approaches.

Topics & Concepts

ChromatinBiologyTranscription factorInduced pluripotent stem cellContext (archaeology)Computational biologyGeneNeuroscienceGeneticsEmbryonic stem cellPaleontologyGenomics and Chromatin DynamicsAutism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders
CHD8 dosage regulates transcription in pluripotency and early murine neural differentiation | Litcius