| Project/Area Number |
18K06926
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Review Section |
Basic Section 48040:Medical biochemistry-related
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| Research Institution | National Center for Child Health and Development |
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Principal Investigator |
Yuko Katoh-fukui 国立研究開発法人国立成育医療研究センター, 分子内分泌研究部, (非)研究員 (50342639)
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| Co-Investigator(Kenkyū-buntansha) |
竹内 隆 鳥取大学, 医学部, 教授 (70197268)
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| Project Period (FY) |
2018-04-01 – 2021-03-31
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| Project Status |
Completed (Fiscal Year 2020)
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| Budget Amount *help |
¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2020: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2019: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2018: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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| Keywords | クロマチン / 生殖腺 / 分化 / マウス / 発生 / 転写制御 / 性分化疾患 / Polycomb / Jarid2 / 遺伝子制御 / 哺乳類 |
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| Outline of Final Research Achievements |
Dynamic chromatin structural transformation occurs in the differentiated cell nucleus. In this study, we focused on the Polycomb Group (PcG) member, Cbx2 and the chromatin component Jarid2 (Jumonji), which is known to associate with PcG in ES cells. In order to verify the Jarid2 flox allele, we deleted floxed exon three regions by using germ-line active Cre. The obtained Jarid2 deficient embryo confirmed edema, septal defect of the heart, and hypoplasia of the liver, similar to the phenotypes observed in previously reported gene-trap mice. In addition, we found an unreported dysplasia of the urogenital regions and retinal coloboma. Furthermore, mutation analysis of these factors in disorders of sex development (DSD) was performed.
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| Academic Significance and Societal Importance of the Research Achievements |
発生中の多様な時期に、多様な組織で機能を果たすクロマチン構成因子のより詳細な解析のために、Jarid2 flox alleleマウスを用いた組織特異的機能解析が可能であることが明らかになった。DSDのみならず様々な小児疾患原因因子あるいはリスク因子としてクロマチン構成因子変異が検討されるべきであることを示した。
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