2020 Fiscal Year Final Research Report
Analysis of long non-coding RNA knockout mice that shows substantially female-specific phenotype.
Project/Area Number |
17K07498
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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 |
Genetics/Chromosome dynamics
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Research Institution | National Institute of Advanced Industrial Science and Technology |
Principal Investigator |
Kobayashi Shin 国立研究開発法人産業技術総合研究所, 生命工学領域, 主任研究員 (10397664)
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Co-Investigator(Kenkyū-buntansha) |
幸田 尚 東京医科歯科大学, 難治疾患研究所, 准教授 (60211893)
石野 史敏 東京医科歯科大学, 難治疾患研究所, 教授 (60159754)
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Project Period (FY) |
2017-04-01 – 2021-03-31
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Keywords | 長鎖ノンコーディングRNA / 雌雄差 / 疾患モデルマウス / 小(無)眼症 / X連鎖疾患 |
Outline of Final Research Achievements |
In mammals, long non-coding RNAs (long ncRNAs, lncRNAs) that do not encode proteins are thought to have regulatory functions of gene expression, but their physiological functions in mice remains unclear. In this research, We show that Fat60/Ftx lncRNA KO mice have a phenotype similar to human microphthalmia, indicating this lncRNA has a role in eye development. Interestingly, the phenotype appears only in females, showing a clear sex difference. Here, we found that Fat60/Ftx KO mice showed an abnormality in "X chromosome inactivation," known as an epigenetic regulation essential for female development, and revealed a new function of Fat60/Ftx lncRNA in mice development.
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Free Research Field |
エピジェネティクス
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Academic Significance and Societal Importance of the Research Achievements |
本課題では、タンパク質をコードしない非コードRNA(non-coding RNA, ncRNA)であるFat60/Ftx lncRNAのノックアウトマウスが、エピジェネティクス制御である「X染色体の不活性化」の異常を示すことを突き止めた。このKOマウスは、これまで不活性化制御の中心分子と考えられてきたXist lncRNA以外に、初めて見つかった、「X染色体の不活性化」異常を示すlncRNAのKOマウスであり、X染色体不活性化機構をlncRNAの観点から包括的に理解するために、非常に重要な知見が得られた。
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