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  • Mutations in UVSSA cause UV...
    NAKAZAWA, Yuka; SASAKI, Kensaku; NOMURA, Masayo; KINOSHITA, Akira; ONO, Shinji; TAKENAKA, Katsuya; MASUYAMA, Ritsuko; KUDO, Takashi; SLOR, Hanoch; UTANI, Atsushi; TATEISHI, Satoshi; YAMASHITA, Shunichi; MITSUTAKE, Norisato; STEFANINI, Miria; LEHMANN, Alan R; YOSHIURA, Koh-Ichiro; OGI, Tomoo; MATSUSE, Michiko; SHIMADA, Mayuko; NARDO, Tiziana; TAKAHASHI, Yoshito; OHYAMA, Kaname; ITO, Kosei; MISHIMA, Hiroyuki

    Nature genetics, 05/2012, Volume: 44, Issue: 5
    Journal Article

    UV-sensitive syndrome (UV(S)S) is a genodermatosis characterized by cutaneous photosensitivity without skin carcinoma. Despite mild clinical features, cells from individuals with UV(S)S, like Cockayne syndrome cells, are very UV sensitive and are deficient in transcription-coupled nucleotide-excision repair (TC-NER), which removes DNA damage in actively transcribed genes. Three of the seven known UV(S)S cases carry mutations in the Cockayne syndrome genes ERCC8 or ERCC6 (also known as CSA and CSB, respectively). The remaining four individuals with UVSS , one of whom is described for the first time here, formed a separate UV(S)S-A complementation group; however, the responsible gene was unknown. Using exome sequencing, we determine that mutations in the UVSSA gene (formerly known as KIAA1530) cause UV(S)S-A. The UVSSA protein interacts with TC-NER machinery and stabilizes the ERCC6 complex; it also facilitates ubiquitination of RNA polymerase IIo stalled at DNA damage sites. Our findings provide mechanistic insights into the processing of stalled RNA polymerase and explain the different clinical features across these TC-NER–deficient disorders.