WEKO3
アイテム
{"_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": ["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": [{"nameIdentifier": "38110", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Sasaki, Kensaku"}], "nameIdentifiers": [{"nameIdentifier": "38111", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Mitsutake, Norisato"}], "nameIdentifiers": [{"nameIdentifier": "38112", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Matsuse, Michiko"}], "nameIdentifiers": [{"nameIdentifier": "38113", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Shimada, Mayuko"}], "nameIdentifiers": [{"nameIdentifier": "38114", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Nardo, Tiziana"}], "nameIdentifiers": [{"nameIdentifier": "38115", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Takahashi, Yoshito"}], "nameIdentifiers": [{"nameIdentifier": "38116", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Ohyama, Kaname"}], "nameIdentifiers": [{"nameIdentifier": "38117", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Ito, Kosei"}], "nameIdentifiers": [{"nameIdentifier": "38118", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Mishima, Hiroyuki"}], "nameIdentifiers": [{"nameIdentifier": "38119", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Nomura, Masayo"}], "nameIdentifiers": [{"nameIdentifier": "38120", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Kinoshita, Akira"}], "nameIdentifiers": [{"nameIdentifier": "38121", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Ono, Shinji"}], "nameIdentifiers": [{"nameIdentifier": "38122", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Takenaka, Katsuya"}], "nameIdentifiers": [{"nameIdentifier": "38123", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Masuyama, Ritsuko"}], "nameIdentifiers": [{"nameIdentifier": "38124", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Kudo, Takashi"}], "nameIdentifiers": [{"nameIdentifier": "38125", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Slor, Hanoch"}], "nameIdentifiers": [{"nameIdentifier": "38126", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Utani, Atsushi"}], "nameIdentifiers": [{"nameIdentifier": "38127", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Tateishi, Satoshi"}], "nameIdentifiers": [{"nameIdentifier": "38128", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Yamashita, Shunichi"}], "nameIdentifiers": [{"nameIdentifier": "38129", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Stefanini, Miria"}], "nameIdentifiers": [{"nameIdentifier": "38130", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Lehmann, Alan R"}], "nameIdentifiers": [{"nameIdentifier": "38131", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Yoshiura, Koh-ichiro"}], "nameIdentifiers": [{"nameIdentifier": "38132", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Ogi, Tomoo"}], "nameIdentifiers": [{"nameIdentifier": "38133", "nameIdentifierScheme": "WEKO"}]}]}, "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", "download_preview_message": "", "file_order": 0, "filename": "NG44_586_Supple.pdf", "filesize": [{"value": "4.7 MB"}], "format": "application/pdf", "future_date_message": "", "is_thumbnail": false, "licensetype": "license_free", "mimetype": "application/pdf", "size": 4700000.0, "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", "download_preview_message": "", "file_order": 1, "filename": "NG44_586.pdf", "filesize": [{"value": "967.0 kB"}], "format": "application/pdf", "future_date_message": "", "is_thumbnail": false, "licensetype": "license_free", "mimetype": "application/pdf", "size": 967000.0, "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"], "permalink_uri": "http://hdl.handle.net/10069/30078", "pubdate": {"attribute_name": "公開日", "attribute_value": "2012-12-19"}, "publish_date": "2012-12-19", "publish_status": "0", "recid": "9449", "relation": {}, "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_shared_id": -1}
Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair
http://hdl.handle.net/10069/30078
http://hdl.handle.net/10069/3007812b25d84-5f4f-4259-a2ac-c0aaa203bb91
名前 / ファイル | ライセンス | アクション |
---|---|---|
NG44_586_Supple.pdf (4.7 MB)
|
|
|
NG44_586.pdf (967.0 kB)
|
|
Item type | 学術雑誌論文 / Journal Article(1) | |||||
---|---|---|---|---|---|---|
公開日 | 2012-12-19 | |||||
タイトル | ||||||
タイトル | Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair | |||||
言語 | ||||||
言語 | eng | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | RNA polymerase II | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | scaffold protein | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | small interfering RNA | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | suppressor of cytokine signaling | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | ultraviolet stimulated scaffold protein a | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | unclassified drug | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | article | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Cockayne syndrome | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | DNA damage | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | excision repair | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | exome | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | gene identification | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | gene mutation | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | gene sequence | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | genodermatosis | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | human | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | human cell | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | photosensitivity | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | priority journal | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | sequence analysis | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | ubiquitination | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | ultraviolet sensitive syndrome | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Carrier Proteins | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | DNA Helicases | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | DNA Repair | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | DNA Repair Enzymes | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Exome | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Humans | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Mutation | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | RNA Polymerase II | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Transcription Factors | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Transcription | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Genetic | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Ultraviolet Rays | |||||
資源タイプ | ||||||
資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
資源タイプ | journal article | |||||
著者 |
Nakazawa, Yuka
× 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 |
|||||
抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | 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. | |||||
書誌情報 |
Nature Genetics 巻 44, 号 5, p. 586-592, 発行日 2012-05 |
|||||
出版者 | ||||||
出版者 | Nature Publishing Group | |||||
ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 10614036 | |||||
EISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 15461718 | |||||
DOI | ||||||
関連タイプ | isVersionOf | |||||
識別子タイプ | DOI | |||||
関連識別子 | 10.1038/ng.2229 | |||||
権利 | ||||||
権利情報 | © 2012 Nature America, Inc. All rights reserved. | |||||
権利 | ||||||
権利情報 | http://dx.doi.org/10.1038/ng.2229 | |||||
著者版フラグ | ||||||
出版タイプ | AM | |||||
出版タイプResource | http://purl.org/coar/version/c_ab4af688f83e57aa | |||||
引用 | ||||||
内容記述タイプ | Other | |||||
内容記述 | Nature Genetics, 44(5), pp.586-592; 2012 |