The SWI/SNF subunit INI1 contains an N-terminal winged helix DNA binding domain that Is a target for mutations in schwannomatosis

Mark Allen, Stefan M. V. Freund, Giovanna Zinzalla, Mark Bycroft

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Abstract

SWI/SNF complexes use the energy of ATP hydrolysis to remodel chromatin. In mammals they play a central role in regulating gene expression during differentiation and proliferation. Mutations in SWI/SNF subunits are among the most frequent gene alterations in cancer. The INI1/hSNF5/SMARCB1 subunit is mutated in both malignant rhabdoid tumor, a highly aggressive childhood cancer, and schwannomatosis, a tumor-predisposing syndrome characterized by mostly benign tumors of the CNS. Here, we show that mutations in INI1 that cause schwannomatosis target a hitherto unidentified N-terminal winged helix DNA binding domain that is also present in the BAF45a/PHF10 subunit of the SWI/SNF complex. The domain is structurally related to the SKI/SNO/DAC domain, which is found in a number of metazoan chromatin-associated proteins.
Original languageEnglish
Pages (from-to)1344-1349
JournalStructure
Volume23
Issue number7
Early online date11 Jun 2015
DOIs
Publication statusPublished - 7 Jul 2015
Externally publishedYes

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