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- W4385330315 abstract "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." @default.
- W4385330315 created "2023-07-29" @default.
- W4385330315 creator A5004471027 @default.
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- W4385330315 creator A5039331408 @default.
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- W4385330315 creator A5061895628 @default.
- W4385330315 creator A5063583904 @default.
- W4385330315 creator A5082952339 @default.
- W4385330315 date "2023-07-27" @default.
- W4385330315 modified "2023-10-16" @default.
- W4385330315 title "Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders" @default.
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