{"_buckets": {"deposit": "91c99f6f-aa34-47c0-b826-49f3ff461a1e"}, "_deposit": {"id": "16951", "owners": [], "pid": {"revision_id": 0, "type": "depid", "value": "16951"}, "status": "published"}, "_oai": {"id": "oai:niigata-u.repo.nii.ac.jp:00016951"}, "item_7_alternative_title_1": {"attribute_name": "\u305d\u306e\u4ed6\u306e\u30bf\u30a4\u30c8\u30eb", "attribute_value_mlt": [{"subitem_alternative_title": "Intergenerational Instability of the CAG Repeat of the Gene for Machado-Joseph Disease (MJD1) is Affected by the Genotype of the Normal Chromosome"}]}, "item_7_biblio_info_6": {"attribute_name": "\u66f8\u8a8c\u60c5\u5831", "attribute_value_mlt": [{"bibliographicIssueDates": {"bibliographicIssueDate": "1997-11", "bibliographicIssueDateType": "Issued"}, "bibliographicIssueNumber": "11", "bibliographicPageEnd": "704", "bibliographicPageStart": "691", "bibliographicVolumeNumber": "111", "bibliographic_titles": [{"bibliographic_title": "\u65b0\u6f5f\u533b\u5b66\u4f1a\u96d1\u8a8c"}, {"bibliographic_title": "\u65b0\u6f5f\u533b\u5b66\u4f1a\u96d1\u8a8c", "bibliographic_titleLang": "en"}]}]}, "item_7_description_4": {"attribute_name": "\u6284\u9332", "attribute_value_mlt": [{"subitem_description": "Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder caused by unstable expansion of a CAG repeat in the MJD1 gene at 14q32.1. To identify elements affecting the intergenerational instability of the CAG repeat, we investigated whether the CGG/GGG polymorphism at the 3\u0027 end of the CAG repeat affects the intergenerational instability of the CAG repeat. The \uff3bexpanded (CAG) n-CGG\uff3d/\uff3bnormal (CAG) n-GGG\uff3d haplotypes were found to result in significantly greater instability of the CAG repeat compared to the \uff3bexpanded (CAG) n-CGG\uff3d/\uff3bnomal (CAG) n-CGG\uff3d or \uff3bexpanded (CAG) n-GGG\uff3d/\uff3bnomal (CAG) n-GGG\uff3d haplotypes. Multiple stepwise logistic regression analysis revealed that the relative risk for a large intergenerational change in the number of CAG repeat units (\u003c-2 or \u003e2) is 7.7-fold \uff3b95% Cl\uff1a2.5-23.9\uff3d higher in the case of paternal transmission than in that of maternal transmission and 7.4-fold \uff3b95% Cl\uff1a2.4-23.3\uff3d higher in the case of transmission from a parent with the \uff3bexpanded (CAG) n-CGG\uff3d/\uff3bnormal (CAG) n-GGG\uff3d haplotypes than in that of transmission from a parent with the \uff3bexpanded (CAG) n-CGG\uff3d/\uff3bnormal (CAG) n-CGG\uff3d or \uff3bexpanded (CAG) n-GGG\uff3d/\uff3bnormal (CAG) n-GGG\uff3d haplotypes. The combination of paternal transmission and the \uff3bexpanded (CAG) n-CGG\uff3d/\uff3bnomal (CAG) n-GGG\uff3d haplotypes resulted in a 75.2-fold \uff3b95% Cl\uff1a9.0-625.0\uff3d increase in the relative risk compared with that of maternal transmission and the \uff3bexpanded (CAG) n-CGG\uff3d/\uff3bnormal (CAG) n-CGG\uff3dor\uff3bexpanded (CAG) n-GGG\uff3d/\uff3bnormal (CAG) n-GGG\uff3dhaplotypes. The results suggest that an inter-allelic interaction is involved in the intergenarational instability of the expanded CAG repeat.", "subitem_description_type": "Abstract"}]}, "item_7_full_name_3": {"attribute_name": "\u8457\u8005\u5225\u540d", "attribute_value_mlt": [{"nameIdentifiers": [{"nameIdentifier": "107355", "nameIdentifierScheme": "WEKO"}], "names": [{"name": "Igarashi, Shuichi"}]}]}, "item_7_publisher_7": {"attribute_name": "\u51fa\u7248\u8005", "attribute_value_mlt": [{"subitem_publisher": "\u65b0\u6f5f\u533b\u5b66\u4f1a"}]}, "item_7_select_19": {"attribute_name": "\u8457\u8005\u7248\u30d5\u30e9\u30b0", "attribute_value_mlt": [{"subitem_select_item": "publisher"}]}, "item_7_source_id_11": {"attribute_name": "\u66f8\u8a8c\u30ec\u30b3\u30fc\u30c9ID", "attribute_value_mlt": [{"subitem_source_identifier": "AN00182415", "subitem_source_identifier_type": "NCID"}]}, "item_7_source_id_9": {"attribute_name": "ISSN", "attribute_value_mlt": [{"subitem_source_identifier": "00290440", "subitem_source_identifier_type": "ISSN"}]}, "item_creator": {"attribute_name": "\u8457\u8005", "attribute_type": "creator", "attribute_value_mlt": [{"creatorNames": [{"creatorName": "\u4e94\u5341\u5d50, \u4fee\u4e00"}], "nameIdentifiers": [{"nameIdentifier": "107354", "nameIdentifierScheme": "WEKO"}]}]}, "item_files": {"attribute_name": "\u30d5\u30a1\u30a4\u30eb\u60c5\u5831", "attribute_type": "file", "attribute_value_mlt": [{"accessrole": "open_date", "date": [{"dateType": "Available", "dateValue": "2019-08-08"}], "displaytype": "detail", "download_preview_message": "", "file_order": 0, "filename": "111(11)_691-704.pdf", "filesize": [{"value": "2.6 MB"}], "format": "application/pdf", "future_date_message": "", "is_thumbnail": false, "licensetype": "license_free", "mimetype": "application/pdf", "size": 2600000.0, "url": {"label": "111(11)_691-704.pdf", "url": "https://niigata-u.repo.nii.ac.jp/record/16951/files/111(11)_691-704.pdf"}, "version_id": "9d11c7fe-a1f3-44ab-8c9b-6a50f454881f"}]}, "item_keyword": {"attribute_name": "\u30ad\u30fc\u30ef\u30fc\u30c9", "attribute_value_mlt": [{"subitem_subject": "Machado-Joseph disease", "subitem_subject_scheme": "Other"}, {"subitem_subject": "MJD1 gene", "subitem_subject_scheme": "Other"}, {"subitem_subject": "CAG repeat", "subitem_subject_scheme": "Other"}, {"subitem_subject": "inter-allelic interaction", "subitem_subject_scheme": "Other"}, {"subitem_subject": "gene conversion", "subitem_subject_scheme": "Other"}, {"subitem_subject": "\u30de\u30b7\u30e3\u30c9\u30fc\u30b8\u30e7\u30bb\u30d5\u75c5", "subitem_subject_scheme": "Other"}, {"subitem_subject": "MJD1 \u907a\u4f1d\u5b50", "subitem_subject_scheme": "Other"}, {"subitem_subject": "CAG \u30ea\u30d4\u30fc\u30c8", "subitem_subject_scheme": "Other"}, {"subitem_subject": "\u30a2\u30ea\u30eb\u9593\u76f8\u4e92\u4f5c\u7528", "subitem_subject_scheme": "Other"}, {"subitem_subject": "\u907a\u4f1d\u5b50\u5909\u63db", "subitem_subject_scheme": "Other"}]}, "item_language": {"attribute_name": "\u8a00\u8a9e", "attribute_value_mlt": [{"subitem_language": "jpn"}]}, "item_resource_type": {"attribute_name": "\u8cc7\u6e90\u30bf\u30a4\u30d7", "attribute_value_mlt": [{"resourcetype": "departmental bulletin paper", "resourceuri": "http://purl.org/coar/resource_type/c_6501"}]}, "item_title": "MJD1\u907a\u4f1d\u5b50\u5185\u306eCAG\u30ea\u30d4\u30fc\u30c83\u0027\u672b\u306eCGG/GGG\u591a\u578b\u306b\u95a2\u3059\u308bCAG\u30ea\u30d4\u30fc\u30c8\u306e\u4e16\u4ee3\u9593\u306b\u304a\u3051\u308b\u4e0d\u5b89\u5b9a\u6027\u306e\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u691c\u8a0e", "item_titles": {"attribute_name": "\u30bf\u30a4\u30c8\u30eb", "attribute_value_mlt": [{"subitem_title": "MJD1\u907a\u4f1d\u5b50\u5185\u306eCAG\u30ea\u30d4\u30fc\u30c83\u0027\u672b\u306eCGG/GGG\u591a\u578b\u306b\u95a2\u3059\u308bCAG\u30ea\u30d4\u30fc\u30c8\u306e\u4e16\u4ee3\u9593\u306b\u304a\u3051\u308b\u4e0d\u5b89\u5b9a\u6027\u306e\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u691c\u8a0e"}, {"subitem_title": "MJD1\u907a\u4f1d\u5b50\u5185\u306eCAG\u30ea\u30d4\u30fc\u30c83\u0027\u672b\u306eCGG/GGG\u591a\u578b\u306b\u95a2\u3059\u308bCAG\u30ea\u30d4\u30fc\u30c8\u306e\u4e16\u4ee3\u9593\u306b\u304a\u3051\u308b\u4e0d\u5b89\u5b9a\u6027\u306e\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u691c\u8a0e", "subitem_title_language": "en"}]}, "item_type_id": "7", "owner": "1", "path": ["453/456", "471/537/538/1114"], "permalink_uri": "http://hdl.handle.net/10191/45514", "pubdate": {"attribute_name": "\u516c\u958b\u65e5", "attribute_value": "2017-01-13"}, "publish_date": "2017-01-13", "publish_status": "0", "recid": "16951", "relation": {}, "relation_version_is_last": true, "title": ["MJD1\u907a\u4f1d\u5b50\u5185\u306eCAG\u30ea\u30d4\u30fc\u30c83\u0027\u672b\u306eCGG/GGG\u591a\u578b\u306b\u95a2\u3059\u308bCAG\u30ea\u30d4\u30fc\u30c8\u306e\u4e16\u4ee3\u9593\u306b\u304a\u3051\u308b\u4e0d\u5b89\u5b9a\u6027\u306e\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u691c\u8a0e"], "weko_shared_id": null}