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ダウン症候群の核型正常化による合併症の予防および治療法確立に向けた研究
http://hdl.handle.net/10076/00019458
http://hdl.handle.net/10076/000194582eba4d47-76ac-403e-86bf-d667773d3927
名前 / ファイル | ライセンス | アクション |
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2020RP0021 (563.5 kB)
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Item type | 報告書 / Research Paper(1) | |||||
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公開日 | 2020-11-12 | |||||
タイトル | ||||||
言語 | ja | |||||
タイトル | ダウン症候群の核型正常化による合併症の予防および治療法確立に向けた研究 | |||||
タイトル | ||||||
言語 | en | |||||
タイトル | Proof of concept study of a novel excess chromosome elimination therapy to ameliorate and prevent trisomy 21 associated complications | |||||
言語 | ||||||
言語 | jpn | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | ダウン症候群 | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | トリソミー | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | 染色体工学 | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | iPS細胞 | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | CRISPR/Cas | |||||
資源タイプ | ||||||
資源タイプ識別子 | http://purl.org/coar/resource_type/c_18ws | |||||
資源タイプ | research report | |||||
著者 |
橋詰, 令太郎
× 橋詰, 令太郎× 宮川, 世志幸× 緒方, 藍歌× 高成, 広起 |
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抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Down症候群は、21番染色体の数的過剰により多彩な合併症を発症する。本研究は、体細胞から、過剰染色体を後天的に消去する基盤技術の確立を目指した。核型修正作用が報告されているZSCAN4蛋白質の強制発現は、有意な染色体消去率を示さなかった。他方、単一の21番染色体のみを認識するCRISPR/Cas9システムを構築し、トリソミー21-iPS細胞を対象に染色体の複数箇所切断を行い、標的染色体の消去を試みた。結果、5%以上10%以下の頻度で過剰染色体が消去され、核型を正常化させることに成功した。本技術は、過剰染色体を後天的に消去する基盤技術として将来的な発展が見込めるものと判断される。 | |||||
抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Down syndrome is a chromosomal condition caused by an excess of chromosome 21, leading to an array of lifelong comlications. The elimination of extra chromosome 21 could be directly linked to a promary intervention in this context for a person with Down syndrome. The overexpression of ZSCAN4 protein, a transcription factor previously reported as an aneuploidy correction effector, showed no significant extra chromosome slimination rate compared with no-treatment control trisomy 21 iPS cells in our in vitro setting. In an effort to delete extra chromosome, we next employ CRSPR/Cas9 system for DNA double-strand breals on a single targeted chromosome 21, and found that 7% of entire chromosome loss rate on average by FISH analysis. The strategy to induce single chromosome cleavages at a multiple site using CRISPR/Cas9 thus may contribute to both basic and clinical science for aneuploidy-associated pathological condition, including Down syndrome and other autosomal trisomies. | |||||
内容記述 | ||||||
内容記述タイプ | Other | |||||
内容記述 | 2016年度~2018年度科学研究費補助金(基盤研究(C))研究成果報告書 | |||||
書誌情報 |
発行日 2019-05-30 |
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フォーマット | ||||||
内容記述タイプ | Other | |||||
内容記述 | application/pdf | |||||
著者版フラグ | ||||||
出版タイプ | VoR | |||||
出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
出版者 | ||||||
出版者 | 三重大学 | |||||
出版者(ヨミ) | ||||||
ミエダイガク | ||||||
科研費番号 | ||||||
内容記述タイプ | Other | |||||
内容記述 | 16K09964 | |||||
資源タイプ(三重大) | ||||||
Kaken / 科研費報告書 |