Recurrent SMARCB1 Mutations Reveal a Nucleosome Acidic Patch Interaction Site That Potentiates mSWI/SNF Complex Chromatin Remodeling. Author Alfredo Valencia, Clayton Collings, Hai Dao, Roodolph St Pierre, Yung-Chih Cheng, Junwei Huang, Zhen-Yu Sun, Hyuk-Soo Seo, Nazar Mashtalir, Dawn Comstock, Olubusayo Bolonduro, Nicholas Vangos, Zoe Yeoh, Mary Dornon, Crystal Hermawan, Lee Barrett, Sirano Dhe-Paganon, Clifford Woolf, Tom Muir, Cigall Kadoch Publication Year 2019 Type Journal Article Abstract Mammalian switch/sucrose non-fermentable (mSWI/SNF) complexes are multi-component machines that remodel chromatin architecture. Dissection of the subunit- and domain-specific contributions to complex activities is needed to advance mechanistic understanding. Here, we examine the molecular, structural, and genome-wide regulatory consequences of recurrent, single-residue mutations in the putative coiled-coil C-terminal domain (CTD) of the SMARCB1 (BAF47) subunit, which cause the intellectual disability disorder Coffin-Siris syndrome (CSS), and are recurrently found in cancers. We find that the SMARCB1 CTD contains a basic α helix that binds directly to the nucleosome acidic patch and that all CSS-associated mutations disrupt this binding. Furthermore, these mutations abrogate mSWI/SNF-mediated nucleosome remodeling activity and enhancer DNA accessibility without changes in genome-wide complex localization. Finally, heterozygous CSS-associated SMARCB1 mutations result in dominant gene regulatory and morphologic changes during iPSC-neuronal differentiation. These studies unmask an evolutionarily conserved structural role for the SMARCB1 CTD that is perturbed in human disease. Keywords Humans, Transcription Factors, Mutant Proteins, Protein Binding, Mutation, Models, Molecular, HeLa Cells, Amino Acid Sequence, Female, Male, HEK293 Cells, Chromosomal Proteins, Non-Histone, Enhancer Elements, Genetic, Nucleosomes, Genome, Human, Chromatin Assembly and Disassembly, Heterozygote, Protein Domains, SMARCB1 Protein Journal Cell Volume 179 Issue 6 Pages 1342-1356.e23 Date Published 2019 Nov 27 ISSN Number 1097-4172 DOI 10.1016/j.cell.2019.10.044 Alternate Journal Cell PMCID PMC7175411 PMID 31759698 PubMedPubMed CentralGoogle ScholarBibTeXEndNote X3 XML