2019 Fiscal Year Final Research Report
The epigenetic status of Y chromosome in mammalian undifferentiated gonad
| Project/Area Number |
17K08686
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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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| Research Field |
Human genetics
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| Research Institution | Kobe University |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
星 信彦 神戸大学, 先端融合研究環, 教授 (10209223)
三木 崇範 香川大学, 医学部, 教授 (30274294)
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| Project Period (FY) |
2017-04-01 – 2020-03-31
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| Keywords | 性決定 / 性分化 / Sry / 未分化性腺 / 系統差 / エピジェネティクス / AMH / 性特異的遺伝子発現 |
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| Outline of Final Research Achievements |
The relationship between the modification status of the sex-determining gene Sry on the Y chromosome and the expression of sex-differentiation-related factors was investigated. As a result, it was revealed that Sry expression was different among the commonly used mouse sublines, and that there were spatiotemporal and lateral differences in Sry expression in healthy male individuals. The organ culture system and internal normalizing genes required for validation of Sry expression were also established. Moreover, it was revealed that Amh acts on the Mullerian duct by infiltrating the tissue from the testis toward the mesonephros.
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| Free Research Field |
分子形態学
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| Academic Significance and Societal Importance of the Research Achievements |
性差の確立には性決定遺伝子SRYおよび下流因子の適切な発現が重要で，その調節機構の解明には実験動物による検証が大きく貢献している．本研究の結果，Sry発現に個体差が大きいことや，従来大きく考慮されていなかった亜系統差の重要性が明らかとなった．ヒト疾患においては遺伝子座内のみならず発現制御領域内の小さな変異が原因となることが示されており，性分化機構並びにその破綻機序の解明に重要な知見が提供された．
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