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Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders
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Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders
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Journal Article
Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders
2023
Overview
DNA sequencing-based studies of neurodevelopmental disorders (NDDs) have identified a wide range of genetic determinants. However, a comprehensive analysis of these data, in aggregate, has not to date been performed. Here, we find that genes encoding the mammalian SWI/SNF (mSWI/SNF or BAF) family of ATP-dependent chromatin remodeling protein complexes harbor the greatest number of de novo missense and protein-truncating variants among nuclear protein complexes. Non-truncating NDD-associated protein variants predominantly disrupt the cBAF subcomplex and cluster in four key structural regions associated with high disease severity, including mSWI/SNF-nucleosome interfaces, the ATPase-core ARID-armadillo repeat (ARM) module insertion site, the Arp module and DNA-binding domains. Although over 70% of the residues perturbed in NDDs overlap with those mutated in cancer, ~60% of amino acid changes are NDD-specific. These findings provide a foundation to functionally group variants and link complex aberrancies to phenotypic severity, serving as a resource for the chromatin, clinical genetics and neurodevelopment communities.
Genes encoding members of mammalian SWI/SNF (BAF) complexes are frequently mutated in individuals with neurodevelopmental disorders (NDDs). Mutant NDD residues include some unique to NDD and those shared with human cancers, impacting key structural hubs.
Publisher
Nature Publishing Group US,Nature Publishing Group
Subject
/ 45/43
/ 631/378
/ Analysis
/ Animal Genetics and Genomics
/ Autism
/ Biomedical and Life Sciences
/ Cancer
/ Datasets
/ DNA
/ Genes
/ Genetics
/ Modules
/ Mutation
/ Neurodevelopmental disorders
/ Proteins
