Article
Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair.
Nature genetics - 1 May 2012
Nakazawa Yuka, Sasaki Kensaku, Mitsutake Norisato, Matsuse Michiko, Shimada Mayuko, Nardo Tiziana, Takahashi Yoshito, Ohyama Kaname, Ito Kosei, Mishima Hiroyuki, Nomura Masayo, Kinoshita Akira, Ono Shinji, Takenaka Katsuya, Masuyama Ritsuko, Kudo Takashi, Slor Hanoch, Utani Atsushi, Tateishi Satoshi, Yamashita Shunichi, Stefanini Miria, Lehmann Alan R, Yoshiura Koh-ichiro, Ogi Tomoo
Abstract excerpt
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...
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