{"created":"2023-05-15T14:34:19.220115+00:00","id":44365,"links":{},"metadata":{"_buckets":{"deposit":"0be4af60-7b67-476b-b06d-76abcefd3683"},"_deposit":{"created_by":1,"id":"44365","owners":[1],"pid":{"revision_id":0,"type":"depid","value":"44365"},"status":"published"},"_oai":{"id":"oai:repo.qst.go.jp:00044365","sets":["1"]},"author_link":["440800","440805","440811","440802","440801","440812","440820","440799","440814","440816","440806","440809","440819","440807","440808","440803","440804","440818","440810","440817","440815","440813"],"item_8_biblio_info_7":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"1997-03","bibliographicIssueDateType":"Issued"},"bibliographicPageEnd":"2443","bibliographicPageStart":"2438","bibliographicVolumeNumber":"94","bibliographic_titles":[{"bibliographic_title":"Proceedings of the National Academy of Sciences of the United States of America"}]}]},"item_8_description_5":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"The severe combined immune deficiency (SCID) mouse was reported as an animal model for human immune deficiency. Through the course of several studies, the DNA-dependent protein kinase catalytic subunit (DNA-PKcs) gene came to be considered a candidate for the SCID-responsible gene. We isolated an ORF of the murine DNA-PKcs gene from SCID mice and their parent strain C.B-17 mice and determined the DNA sequences. The ORF of the murine DNA-PKcs gene contained 4128-aa residues and had 78.9% homology with the human DNA-PKcs gene. A particularly important finding is that a T to A transversion results in the substitution of termination codon in SCID mice for the Tyr-4046 in C.B-17 mice. No other mutation was detected in the ORF of the gene. The generality of this transversion was confirmed using four individual SCID and wild-type mice. The substitution took place in the phosphatidylinositol 3-kinase domain, and the mutated gene encodes the truncated products missing 83 residues of wild-type DNA-PKcs products. Furthermore, the quantity of DNA-PKcs transcript in wild-type and SCID cells was almost equal. These observations indicate that the DNA-PKcs gene is the SCID-responsible gene itself and that the detected mutation leads to the SCID aberration.","subitem_description_type":"Abstract"}]},"item_8_source_id_9":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"0027-8424","subitem_source_identifier_type":"ISSN"}]},"item_access_right":{"attribute_name":"アクセス権","attribute_value_mlt":[{"subitem_access_right":"metadata only access","subitem_access_right_uri":"http://purl.org/coar/access_right/c_14cb"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"Araki, Ryoko"}],"nameIdentifiers":[{"nameIdentifier":"440799","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Fujimori, Akira"}],"nameIdentifiers":[{"nameIdentifier":"440800","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Hamatani, Kiyohiro"}],"nameIdentifiers":[{"nameIdentifier":"440801","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Mita, Kazuei"}],"nameIdentifiers":[{"nameIdentifier":"440802","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Saito, Toshiyuki"}],"nameIdentifiers":[{"nameIdentifier":"440803","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Mori, Masahiko"}],"nameIdentifiers":[{"nameIdentifier":"440804","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Fukumura, Ryuutarou"}],"nameIdentifiers":[{"nameIdentifier":"440805","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Morimyo, Mitsuoki"}],"nameIdentifiers":[{"nameIdentifier":"440806","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Muto, Masahiro"}],"nameIdentifiers":[{"nameIdentifier":"440807","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Ito, Masahiro"}],"nameIdentifiers":[{"nameIdentifier":"440808","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Tatsumi, Kouichi"}],"nameIdentifiers":[{"nameIdentifier":"440809","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"Abe, Masumi"}],"nameIdentifiers":[{"nameIdentifier":"440810","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"荒木 良子","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"440811","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"藤森 亮","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"440812","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"三田 和英","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"440813","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"齋藤 俊行","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"440814","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"森 雅彦","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"440815","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"福村 龍太郎","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"440816","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"森明 充興","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"440817","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"武藤 正弘","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"440818","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"巽 紘一","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"440819","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"安倍 真澄","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"440820","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":"Nonsense mutation at Tyr-4046 in the DNA-dependent protein kinase catalytic subunit of severe combined immune deficiency mice.","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Nonsense mutation at Tyr-4046 in the DNA-dependent protein kinase catalytic subunit of severe combined immune deficiency mice."}]},"item_type_id":"8","owner":"1","path":["1"],"pubdate":{"attribute_name":"公開日","attribute_value":"2006-06-28"},"publish_date":"2006-06-28","publish_status":"0","recid":"44365","relation_version_is_last":true,"title":["Nonsense mutation at Tyr-4046 in the DNA-dependent protein kinase catalytic subunit of severe combined immune deficiency mice."],"weko_creator_id":"1","weko_shared_id":-1},"updated":"2023-05-16T00:16:19.136298+00:00"}