{"created":"2023-05-15T14:36:43.287317+00:00","id":47307,"links":{},"metadata":{"_buckets":{"deposit":"2a6dad6a-e993-44b2-83aa-1f392dc408a0"},"_deposit":{"created_by":1,"id":"47307","owners":[1],"pid":{"revision_id":0,"type":"depid","value":"47307"},"status":"published"},"_oai":{"id":"oai:repo.qst.go.jp:00047307","sets":["1"]},"author_link":["473196","473213","473192","473193","473202","473183","473199","473186","473206","473203","473200","473191","473205","473185","473211","473188","473184","473189","473204","473210","473195","473208","473194","473209","473207","473187","473198","473201","473190","473212","473197"],"item_8_biblio_info_7":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2012-02","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"6071","bibliographicPageStart":"966-9","bibliographicVolumeNumber":"335","bibliographic_titles":[{"bibliographic_title":"Science (New York, N.Y.)"}]}]},"item_8_description_5":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Neighboring genes are often coordinately expressed within cis-regulatory modules, but evidence that nonparalogous genes share functions in mammals is lacking. Here, we report that mutation of either TMEM138 or TMEM216 causes a phenotypically indistinguishable human ciliopathy, Joubert syndrome. Despite a lack of sequence homology, the genes are aligned in a head-to-tail configuration and joined by chromosomal rearrangement at the amphibian-to-reptile evolutionary transition. Expression of the two genes is mediated by a conserved regulatory element in the noncoding intergenic region. Coordinated expression is important for their interdependent cellular role in vesicular transport to primary cilia. Hence, during vertebrate evolution of genes involved in ciliogenesis, nonparalogous genes were arranged to a functional gene cluster with shared regulatory elements.","subitem_description_type":"Abstract"}]},"item_8_publisher_8":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"American Association for the Advancement of Science"}]},"item_8_relation_13":{"attribute_name":"PubMed番号","attribute_value_mlt":[{"subitem_relation_type_id":{"subitem_relation_type_id_text":"22282472","subitem_relation_type_select":"PMID"}}]},"item_8_relation_14":{"attribute_name":"DOI","attribute_value_mlt":[{"subitem_relation_type_id":{"subitem_relation_type_id_text":"10.1126/science.1213506","subitem_relation_type_select":"DOI"}}]},"item_8_source_id_9":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"0036-8075","subitem_source_identifier_type":"ISSN"}]},"item_access_right":{"attribute_name":"アクセス権","attribute_value_mlt":[{"subitem_access_right":"metadata only 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Saghira"}],"nameIdentifiers":[{"nameIdentifier":"473196","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"P, Bennett Christopher"}],"nameIdentifiers":[{"nameIdentifier":"473197","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Abe, Masumi"}],"nameIdentifiers":[{"nameIdentifier":"473198","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Hildebrandt, Friedhelm"}],"nameIdentifiers":[{"nameIdentifier":"473199","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"H, Diplas Bill"}],"nameIdentifiers":[{"nameIdentifier":"473200","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Attié-Bitach, Tania"}],"nameIdentifiers":[{"nameIdentifier":"473201","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Katsanis, Nicholas"}],"nameIdentifiers":[{"nameIdentifier":"473202","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Rajab, 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Enza"}],"nameIdentifiers":[{"nameIdentifier":"473210","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"S, Zaki Maha"}],"nameIdentifiers":[{"nameIdentifier":"473211","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"G, Gleeson Joseph"}],"nameIdentifiers":[{"nameIdentifier":"473212","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"安倍 真澄","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"473213","nameIdentifierScheme":"WEKO"}]}]},"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":"Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Evolutionarily assembled cis-regulatory module at a human ciliopathy locus."}]},"item_type_id":"8","owner":"1","path":["1"],"pubdate":{"attribute_name":"公開日","attribute_value":"2015-09-16"},"publish_date":"2015-09-16","publish_status":"0","recid":"47307","relation_version_is_last":true,"title":["Evolutionarily assembled cis-regulatory module at a human ciliopathy locus."],"weko_creator_id":"1","weko_shared_id":-1},"updated":"2023-05-15T23:41:20.795240+00:00"}