Functional analysis of mutants of EVI1 identified in individuals with radioulnar synostosis with amegakaryocytic thrombocytopenia
Project/Area Number |
17K10045
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Research Category |
Grant-in-Aid for Scientific Research (C)
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Allocation Type | Multi-year Fund |
Section | 一般 |
Research Field |
Pediatrics
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Research Institution | Tohoku University |
Principal Investigator |
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Co-Investigator(Kenkyū-buntansha) |
松原 洋一 国立研究開発法人国立成育医療研究センター, 所長室, 研究所長 (00209602)
青木 洋子 東北大学, 医学系研究科, 教授 (80332500)
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Project Period (FY) |
2017-04-01 – 2020-03-31
|
Project Status |
Completed (Fiscal Year 2019)
|
Budget Amount *help |
¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2019: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2018: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2017: ¥2,860,000 (Direct Cost: ¥2,200,000、Indirect Cost: ¥660,000)
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Keywords | 血小板減少症 / MECOM / 橈尺骨癒合症 / 橈尺骨癒合 / HOXA11 / EVI1 |
Outline of Final Research Achievements |
We sequenced MECOM, HOXA11, SMAD6, and NOG of DNA from patients with radioulnar synostosis with or without thrombocytopenia and identified several rare variants. The significance of these variants are needed to be determined. We observed phenotypic changes in the mecom knockdown zebrafish by morpholino in a dose-dependent manner.The mecom knockout zebrafish were also generated and analyzed.
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Academic Significance and Societal Importance of the Research Achievements |
本研究の成果によって、ゼブラフィッシュにおける遺伝子改変モデルの作成と解析が可能となり、遺伝子バリアントの生体への影響がより容易に解析可能となった。MECOMのミスセンス変異や特定の部位を変異させた機能解析はこれまで他の研究グループでも成果が限られており、本研究の結果はMECOMの関連した病態に対して新たな知見を加えるのみならず、正常なMECOM機能の理解を深めるために重要な情報となる。
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Report
(4 results)
Research Products
(6 results)
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[Journal Article] Germline-Activating RRAS2 Mutations Cause Noonan Syndrome2019
Author(s)
Niihori Tetsuya、Nagai Koki、Fujita Atsushi、Ohashi Hirofumi、Okamoto Nobuhiko、Okada Satoshi、Harada Atsuko、Kihara Hirotaka、Arbogast Thomas、Funayama Ryo、Shirota Matsuyuki、Nakayama Keiko、Abe Taiki、Inoue Shin-ichi、Tsai I-Chun、Matsumoto Naomichi、Davis Erica E.、Katsanis Nicholas、Aoki Yoko
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Journal Title
The American Journal of Human Genetics
Volume: 104
Issue: 6
Pages: 1233-1240
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[Presentation] RRAS2の活性化型生殖細胞変異はNoonan症候群を引き起こす2019
Author(s)
新堀哲也, 永井康貴, 藤田京志, 大橋博文, 岡本伸彦, 岡田賢, 原田敦子, 木原裕貴, Thomas Arbogast, 舟山亮, 城田松之, 中山啓子, 阿部太記, 井上晋一, I-Chun Tsai, 松本直通, Erica E. Davis, Nicholas Katsanis, 青木洋子
Organizer
日本人類遺伝学会第64回大会
Related Report