2023 Fiscal Year Final Research Report
An establishment of dominantly inherited growth hormone deficiency model mice
| Project/Area Number |
21K07849
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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 52050:Embryonic medicine and pediatrics-related
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| Research Institution | Kumamoto University |
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Principal Investigator |
Ariyasu Daisuke 熊本大学, 生命資源研究・支援センター, 客員助教 (60338100)
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| Co-Investigator(Kenkyū-buntansha) |
荒木 喜美 熊本大学, 生命資源研究・支援センター, 教授 (90211705)
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| Project Period (FY) |
2021-04-01 – 2024-03-31
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| Keywords | 成長ホルモン分泌不全 / 小胞体ストレス / 優性阻害効果 |
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| Outline of Final Research Achievements |
We established model mice representing the phenotype of human isolated growth hormone deficiency type 2 by deleting endogenous exon 3 in the Gh gene using CRISPR/Cas9 system. Quantitative RT-PCR analysis revealed splicing of Xbp1 gene is stimulated, which suggests that exon 3-deleted growth hormone exerted endoplasmic reticulum stress.
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| Free Research Field |
小児内分泌学
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| Academic Significance and Societal Importance of the Research Achievements |
初報以来今まで30年間その発症機序が未解明であった顕性遺伝性GH1遺伝子異常症について、その発症機序を初めて解明しうる遺伝学的ツールを作製したこと。また、マウスにヒトと同じ遺伝子バリアントを挿入することでマウスにおいても同様の表現型が得られたことは、学術的意義が大きい。
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