@article{oai:nagasaki-u.repo.nii.ac.jp:00009449,
 author = {Nakazawa, Yuka and Sasaki, Kensaku and Mitsutake, Norisato and Matsuse, Michiko and Shimada, Mayuko and Nardo, Tiziana and Takahashi, Yoshito and Ohyama, Kaname and Ito, Kosei and Mishima, Hiroyuki and Nomura, Masayo and Kinoshita, Akira and Ono, Shinji and Takenaka, Katsuya and Masuyama, Ritsuko and Kudo, Takashi and Slor, Hanoch and Utani, Atsushi and Tateishi, Satoshi and Yamashita, Shunichi and Stefanini, Miria and Lehmann, Alan R and Yoshiura, Koh-ichiro and Ogi, Tomoo},
 issue = {5},
 journal = {Nature Genetics},
 month = {May},
 note = {UV-sensitive syndrome (UV SS) is a genodermatosis characterized by cutaneous photosensitivity without skin carcinoma. Despite mild clinical features, cells from individuals with UV SS, 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 SS cases carry mutations in the Cockayne syndrome genes ERCC8 or ERCC6 (also known as CSA and CSB, respectively). The remaining four individuals with UV SS, one of whom is described for the first time here, formed a separate UV SS-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 SS-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-NERg-deficient disorders., Nature Genetics, 44(5), pp.586-592; 2012},
 pages = {586--592},
 title = {Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair},
 volume = {44},
 year = {2012}
}