Art

J-GLOBAL ID：201202215533450753   Reference number：12A0766291

Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair

紫外線感受性症候群:UVSSA遺伝子の変異は紫外線高感受性症候群の原因となり,転写と共役したヌクレオチド除去修復においてRNAポリメラーゼIIoのプロセシングを損なわせる

Author (33)： NAKAZAWA Yuka (Nagasaki Univ. Res. Centre for Genomic Instability and Carcinogenesis (NRGIC), Nagasaki, JPN) ,  MITSUTAKE Norisato (Nagasaki Univ. Res. Centre for Genomic Instability and Carcinogenesis (NRGIC), Nagasaki, JPN) ,  MATSUSE Michiko (Nagasaki Univ. Res. Centre for Genomic Instability and Carcinogenesis (NRGIC), Nagasaki, JPN) ,  SHIMADA Mayuko (Nagasaki Univ. Res. Centre for Genomic Instability and Carcinogenesis (NRGIC), Nagasaki, JPN) ,  OHYAMA Kaname (Nagasaki Univ. Res. Centre for Genomic Instability and Carcinogenesis (NRGIC), Nagasaki, JPN) ,  ITO Kosei (Nagasaki Univ. Res. Centre for Genomic Instability and Carcinogenesis (NRGIC), Nagasaki, JPN) ,  KINOSHITA Akira (Nagasaki Univ. Res. Centre for Genomic Instability and Carcinogenesis (NRGIC), Nagasaki, JPN) ,  OGI Tomoo (Nagasaki Univ. Res. Centre for Genomic Instability and Carcinogenesis (NRGIC), Nagasaki, JPN) ,  NAKAZAWA Yuka (Nagasaki Univ., Nagasaki, JPN) ,  SHIMADA Mayuko (Nagasaki Univ., Nagasaki, JPN) ,  OGI Tomoo (Nagasaki Univ., Nagasaki, JPN) ,  MITSUTAKE Norisato (Nagasaki Univ., Nagasaki, JPN) ,  MATSUSE Michiko (Nagasaki Univ., Nagasaki, JPN) ,  YAMASHITA Shunichi (Nagasaki Univ., Nagasaki, JPN) ,  SASAKI Kensaku (Nagasaki Univ., Nagasaki, JPN) ,  MISHIMA Hiroyuki (Nagasaki Univ., Nagasaki, JPN) ,  NOMURA Masayo (Nagasaki Univ., Nagasaki, JPN) ,  KINOSHITA Akira (Nagasaki Univ., Nagasaki, JPN) ,  ONO Shinji (Nagasaki Univ., Nagasaki, JPN) ,  YOSHIURA Koh-ichiro (Nagasaki Univ., Nagasaki, JPN) ,  NARDO Tiziana (Istituto di Genetica Molecolare, Consiglio Nazionale delle Ricerche, Pavia, ITA) ,  STEFANINI Miria (Istituto di Genetica Molecolare, Consiglio Nazionale delle Ricerche, Pavia, ITA) ,  TAKAHASHI Yoshito (Kanebo Cosmetics Inc., Odawara, JPN) ,  OHYAMA Kaname (Nagasaki Univ., Nagasaki, JPN) ,  ITO Kosei (Nagasaki Univ., Nagasaki, JPN) ,  MASUYAMA Ritsuko (Nagasaki Univ., Nagasaki, JPN) ,  TAKENAKA Katsuya (Tokyo Medical and Dental Univ., Tokyo, JPN) ,  KUDO Takashi (Nagasaki Univ., Nagasaki, JPN) ,  SLOR Hanoch (Tel Aviv Univ., Tel Aviv, ISR) ,  UTANI Atsushi (Nagasaki Univ., Nagasaki, JPN) ,  TATEISHI Satoshi (Kumamoto Univ., Kumamoto, JPN) ,  YAMASHITA Shunichi (Fukushima Medical Univ., Fukushima, JPN) ,  LEHMANN Alan R (Univ. Sussex, Brighton, GBR)
Material： Nature Genetics  (Nat Genet)
Volume： 44  Issue： 5  Page： 586-592  Publication year： May. 2012 
JST Material Number： W0430A  ISSN： 1061-4036  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Thesaurus term： excision repair ,  RNA Polymerase II ,  human ,  *hereditary disease ,  *gene ,  nucleotide sequence ,  Mutation ,  Ubiquitination ,  transcription (genetics) ,  DNA lesion ,  ultraviolet sensitivity
Semi thesaurus term： RNAポリメラーゼIIo ,  *UVSSA遺伝子 ,  *紫外線高感受性症候群

JST classification (1)： Genetic variation  (EC01030Y)

Terms in the title (11)： 紫外線感受性 ,  症候群 ,  遺伝子 ,  変異 ,  紫外線 ,  高感受性 ,  原因 ,  転写 ,  共役 ,  ヌクレオチド除去修復 ,  プロセシング