The UVSSA protein is part of a genome integrity homeostasis network with links to transcription-coupled DNA repair and ATM signaling
Kordon, Magdalena M ; Arron, Sarah ; Cleaver, James E ; Bezrookove, Vladimir ; Karentz, Deneb ; Lu, Brian ; Perr, Eli ; Chang, Darwin ; Pederson, Thoru
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Abstract
SignificanceTranscription-coupled repair (TCR) involves four core proteins: CSA, CSB, USP7, and UVSSA. CSA and CSB are mutated in the severe human neurocutaneous disease Cockayne syndrome. In contrast UVSSA is a mild photosensitive disease in which a mutated protein sequence prevents recruitment of USP7 protease to deubiquitinate and stabilize CSB. We deleted the UVSSA protein using CRISPR-Cas9 in an aneuploid cell line, HEK293, and determined the functional consequences. The knockout cell line was sensitive to transcription-blocking lesions but not sensitive to oxidative agents or PARP inhibitors, unlike CSB. Knockout of UVSSA also activated ATM, like CSB, in transcription-arrested cells. The phenotype of UVSSA, especially its rarity, suggests that many TCR-deficient patients and tumors fail to be recognized clinically.
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Kordon MM, Arron S, Cleaver JE, Bezrookove V, Karentz D, Lu B, Perr E, Chang D, Pederson T. The UVSSA protein is part of a genome integrity homeostasis network with links to transcription-coupled DNA repair and ATM signaling. Proc Natl Acad Sci U S A. 2022 Mar 15;119(11):e2116254119. doi: 10.1073/pnas.2116254119. Epub 2022 Mar 7. PMID: 35254895; PMCID: PMC8931232.