{"created":"2023-05-15T16:36:25.158518+00:00","id":9449,"links":{},"metadata":{"_buckets":{"deposit":"0abb8f56-5aaa-474e-8cb8-c825f18d44a9"},"_deposit":{"created_by":2,"id":"9449","owners":[2],"pid":{"revision_id":0,"type":"depid","value":"9449"},"status":"published"},"_oai":{"id":"oai:nagasaki-u.repo.nii.ac.jp:00009449","sets":["25:26"]},"author_link":["38133","38112","38132","38122","38110","38131","38116","38118","38129","38124","38111","38123","38130","38120","38119","38126","38114","38115","38128","38125","38117","38113","38121","38127"],"item_2_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2012-05","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"5","bibliographicPageEnd":"592","bibliographicPageStart":"586","bibliographicVolumeNumber":"44","bibliographic_titles":[{"bibliographic_title":"Nature Genetics"}]}]},"item_2_description_4":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"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.","subitem_description_type":"Abstract"}]},"item_2_description_63":{"attribute_name":"引用","attribute_value_mlt":[{"subitem_description":"Nature Genetics, 44(5), pp.586-592; 2012","subitem_description_type":"Other"}]},"item_2_publisher_33":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"Nature Publishing Group"}]},"item_2_relation_12":{"attribute_name":"DOI","attribute_value_mlt":[{"subitem_relation_type":"isVersionOf","subitem_relation_type_id":{"subitem_relation_type_id_text":"10.1038/ng.2229","subitem_relation_type_select":"DOI"}}]},"item_2_rights_13":{"attribute_name":"権利","attribute_value_mlt":[{"subitem_rights":"© 2012 Nature America, Inc. All rights reserved."},{"subitem_rights":"http://dx.doi.org/10.1038/ng.2229"}]},"item_2_source_id_7":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"10614036","subitem_source_identifier_type":"ISSN"}]},"item_2_source_id_8":{"attribute_name":"EISSN","attribute_value_mlt":[{"subitem_source_identifier":"15461718","subitem_source_identifier_type":"ISSN"}]},"item_2_version_type_16":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_ab4af688f83e57aa","subitem_version_type":"AM"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"Nakazawa, Yuka"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Sasaki, Kensaku"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Mitsutake, Norisato"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Matsuse, Michiko"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Shimada, Mayuko"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Nardo, Tiziana"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Takahashi, Yoshito"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Ohyama, Kaname"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Ito, Kosei"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Mishima, Hiroyuki"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Nomura, Masayo"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Kinoshita, Akira"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Ono, Shinji"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Takenaka, Katsuya"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Masuyama, Ritsuko"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Kudo, Takashi"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Slor, Hanoch"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Utani, Atsushi"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Tateishi, Satoshi"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Yamashita, Shunichi"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Stefanini, Miria"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Lehmann, Alan R"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Yoshiura, Koh-ichiro"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Ogi, Tomoo"}],"nameIdentifiers":[{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2020-12-22"}],"displaytype":"detail","filename":"NG44_586_Supple.pdf","filesize":[{"value":"4.7 MB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"NG44_586_Supple.pdf","url":"https://nagasaki-u.repo.nii.ac.jp/record/9449/files/NG44_586_Supple.pdf"},"version_id":"414d9d41-b47b-46b2-ac7c-84c8089da16a"},{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2020-12-22"}],"displaytype":"detail","filename":"NG44_586.pdf","filesize":[{"value":"967.0 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"NG44_586.pdf","url":"https://nagasaki-u.repo.nii.ac.jp/record/9449/files/NG44_586.pdf"},"version_id":"eef5573e-75b8-4ea0-928f-9f502d50b54e"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"RNA polymerase II","subitem_subject_scheme":"Other"},{"subitem_subject":"scaffold protein","subitem_subject_scheme":"Other"},{"subitem_subject":"small interfering RNA","subitem_subject_scheme":"Other"},{"subitem_subject":"suppressor of cytokine signaling","subitem_subject_scheme":"Other"},{"subitem_subject":"ultraviolet stimulated scaffold protein a","subitem_subject_scheme":"Other"},{"subitem_subject":"unclassified drug","subitem_subject_scheme":"Other"},{"subitem_subject":"article","subitem_subject_scheme":"Other"},{"subitem_subject":"Cockayne syndrome","subitem_subject_scheme":"Other"},{"subitem_subject":"DNA damage","subitem_subject_scheme":"Other"},{"subitem_subject":"excision repair","subitem_subject_scheme":"Other"},{"subitem_subject":"exome","subitem_subject_scheme":"Other"},{"subitem_subject":"gene identification","subitem_subject_scheme":"Other"},{"subitem_subject":"gene mutation","subitem_subject_scheme":"Other"},{"subitem_subject":"gene sequence","subitem_subject_scheme":"Other"},{"subitem_subject":"genodermatosis","subitem_subject_scheme":"Other"},{"subitem_subject":"human","subitem_subject_scheme":"Other"},{"subitem_subject":"human cell","subitem_subject_scheme":"Other"},{"subitem_subject":"photosensitivity","subitem_subject_scheme":"Other"},{"subitem_subject":"priority journal","subitem_subject_scheme":"Other"},{"subitem_subject":"sequence analysis","subitem_subject_scheme":"Other"},{"subitem_subject":"ubiquitination","subitem_subject_scheme":"Other"},{"subitem_subject":"ultraviolet sensitive syndrome","subitem_subject_scheme":"Other"},{"subitem_subject":"Carrier Proteins","subitem_subject_scheme":"Other"},{"subitem_subject":"DNA Helicases","subitem_subject_scheme":"Other"},{"subitem_subject":"DNA Repair","subitem_subject_scheme":"Other"},{"subitem_subject":"DNA Repair Enzymes","subitem_subject_scheme":"Other"},{"subitem_subject":"Exome","subitem_subject_scheme":"Other"},{"subitem_subject":"Humans","subitem_subject_scheme":"Other"},{"subitem_subject":"Mutation","subitem_subject_scheme":"Other"},{"subitem_subject":"RNA Polymerase II","subitem_subject_scheme":"Other"},{"subitem_subject":"Transcription Factors","subitem_subject_scheme":"Other"},{"subitem_subject":"Transcription","subitem_subject_scheme":"Other"},{"subitem_subject":"Genetic","subitem_subject_scheme":"Other"},{"subitem_subject":"Ultraviolet Rays","subitem_subject_scheme":"Other"}]},"item_language":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"eng"}]},"item_resource_type":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"resourcetype":"journal article","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair"}]},"item_type_id":"2","owner":"2","path":["26"],"pubdate":{"attribute_name":"公開日","attribute_value":"2012-12-19"},"publish_date":"2012-12-19","publish_status":"0","recid":"9449","relation_version_is_last":true,"title":["Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair"],"weko_creator_id":"2","weko_shared_id":-1},"updated":"2023-05-16T01:45:46.005640+00:00"}