{"created":"2023-07-27T06:52:16.360983+00:00","id":46079,"links":{},"metadata":{"_buckets":{"deposit":"a05e6f0e-3760-4130-980c-e97533f7718a"},"_deposit":{"created_by":18,"id":"46079","owners":[18],"pid":{"revision_id":0,"type":"depid","value":"46079"},"status":"published"},"_oai":{"id":"oai:kanazawa-u.repo.nii.ac.jp:00046079","sets":["2812:2813:2823"]},"author_link":["247","79935"],"item_9_biblio_info_8":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2011-04-20","bibliographicIssueDateType":"Issued"},"bibliographicPageStart":"4p.","bibliographicVolumeNumber":"2009-2010","bibliographic_titles":[{"bibliographic_title":"平成22(2010)年度 科学研究費補助金 若手研究(B) 研究成果報告書"},{"bibliographic_title":"2010 Fiscal Year Final Research Report","bibliographic_titleLang":"en"}]}]},"item_9_creator_33":{"attribute_name":"著者別表示","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{}],"nameIdentifiers":[{},{}]}]},"item_9_description_21":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"本研究は,ヒト染色体工学技術を用いて自閉症患者で最も頻回に認められる15q11-q13領域の母方アレル特異的重複を再現し,「なぜ過剰な母方15q11-q13領域がUBE3A,ATP10C,GABAレセプター遺伝子群の発現量を低下させるか」を染色体ペアリングや染色体の核内配置といった高次クロマチン構造の視点から検討した。その結果,母方15q重複モデル細胞株においてGABRB3遺伝子やCHRNA7遺伝子の発現量の低下とともに,GABRB3遺伝子近傍での特異的な相同染色体のペアリングが消失していた。","subitem_description_type":"Abstract"},{"subitem_description":"The most common recurrent cytogenetic abnormalities in autism spectrum disorders involve maternally derived duplications of the imprinted domain on chromosome 15q11-q13. Therefore characterizing the epigenetic chromatin organization of 15q11-q13 is important for understanding normal neuronal development. In this study, we focused on the homologous 15q11-q13 pairing in human neuronal cells. Our aim is to understand how the homologous pairing of 15q11-q13 is organized in the mammalian brain and associated with gene expression within the paired regions. In order to model 15q11-q13 maternal duplication in a neuronal cell line, a maternal copy of human chromosome 15 was transferred into the human SH-SY5Y neuronal cells by microcell fusion. As expected, homologous 15q11-q13 pairing was disrupted in human neuronal cells with an extra maternal copy of human chromosome 15. Interestingly, gene expression analysis of 15q11-q13 transcripts demonstrated significantly decreased expression of SNRPN, GABRB3, CHRNA7 transcripts despite increased maternal dosage. These results suggested that gene expression can be altered in unexpected ways through epigenetic changes resulting from increased maternal 15q11-13 dosage.","subitem_description_type":"Abstract"}]},"item_9_description_22":{"attribute_name":"内容記述","attribute_value_mlt":[{"subitem_description":"出典：研究課題「15q11-13染色体ペアリングに着目した自閉症発症機構の解明」課題番号21710193\n（KAKEN：科学研究費助成事業データベース（国立情報学研究所）） \n（https://kaken.nii.ac.jp/report/KAKENHI-PROJECT-21710193/21710193seika/）を加工して作成","subitem_description_type":"Other"}]},"item_9_description_5":{"attribute_name":"提供者所属","attribute_value_mlt":[{"subitem_description":"金沢大学学際科学実験センター","subitem_description_type":"Other"}]},"item_9_identifier_registration":{"attribute_name":"ID登録","attribute_value_mlt":[{"subitem_identifier_reg_text":"10.24517/00052413","subitem_identifier_reg_type":"JaLC"}]},"item_9_relation_28":{"attribute_name":"関連URI","attribute_value_mlt":[{"subitem_relation_name":[{"subitem_relation_name_text":"https://kaken.nii.ac.jp/search/?qm=40448311"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://kaken.nii.ac.jp/search/?qm=40448311","subitem_relation_type_select":"URI"}},{"subitem_relation_name":[{"subitem_relation_name_text":"https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-21710193/"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-21710193/","subitem_relation_type_select":"URI"}},{"subitem_relation_name":[{"subitem_relation_name_text":"https://kaken.nii.ac.jp/report/KAKENHI-PROJECT-21710193/21710193seika/"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://kaken.nii.ac.jp/report/KAKENHI-PROJECT-21710193/21710193seika/","subitem_relation_type_select":"URI"}}]},"item_9_version_type_25":{"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_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2018-10-12"}],"displaytype":"detail","filename":"FR-PR-HORIIKE-S-kaken 2011-4p.pdf","filesize":[{"value":"195.8 kB"}],"format":"application/pdf","licensetype":"license_11","mimetype":"application/pdf","url":{"label":"FR-PR-HORIIKE-S-kaken 2011-4p.pdf","url":"https://kanazawa-u.repo.nii.ac.jp/record/46079/files/FR-PR-HORIIKE-S-kaken 2011-4p.pdf"},"version_id":"b2b26222-2d52-407e-90fd-787a745bee3c"}]},"item_language":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"jpn"}]},"item_resource_type":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"resourcetype":"research report","resourceuri":"http://purl.org/coar/resource_type/c_18ws"}]},"item_title":"15q11-13染色体ペアリングに着目した自閉症発症機構の解明","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"15q11-13染色体ペアリングに着目した自閉症発症機構の解明"},{"subitem_title":"Neuron-specific impairment of inter-chromosomal pairing and transcription in a novel model of human 15q-duplication syndrome","subitem_title_language":"en"}]},"item_type_id":"9","owner":"18","path":["2823"],"pubdate":{"attribute_name":"公開日","attribute_value":"2018-10-12"},"publish_date":"2018-10-12","publish_status":"0","recid":"46079","relation_version_is_last":true,"title":["15q11-13染色体ペアリングに着目した自閉症発症機構の解明"],"weko_creator_id":"18","weko_shared_id":-1},"updated":"2023-07-27T13:20:44.911098+00:00"}