2021 Fiscal Year Final Research Report
Molecular basis of human sex spectrum
Project Area | Spectrum of the Sex: a continuity of phenotypes between female and male |
Project/Area Number |
17H06428
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Research Category |
Grant-in-Aid for Scientific Research on Innovative Areas (Research in a proposed research area)
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Allocation Type | Single-year Grants |
Review Section |
Biological Sciences
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Research Institution | National Center for Child Health and Development |
Principal Investigator |
Fukami Maki 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, 部長 (40265872)
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Co-Investigator(Kenkyū-buntansha) |
緒方 勤 浜松医科大学, 医学部, 特命研究教授 (40169173)
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Project Period (FY) |
2017-06-30 – 2022-03-31
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Keywords | 遺伝子 / 性分化 / ホルモン / 先天性疾患 |
Outline of Final Research Achievements |
We addressed the concept of "sex spectrum" in humans. Our notable achievements include (i) discovery of several novel genetic abnormalities leading to disorders of sex development, pubertal disorders, and spermatogenic failure; (ii) elucidation of the physiological and pathological roles of novel human androgens (11-oxygenated C19 steroids); (iii) clarification of the timing of X chromosome inactivation and aneuploidy rescue in early embryos. (iv) understanding the effects of intrauterine malnutrition on sex differentiation and spermatogenesis; and (v) elucidating sex hormone metabolism in healthy prepubertal children and in the placenta.
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Free Research Field |
分子内分泌学
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Academic Significance and Societal Importance of the Research Achievements |
ヒトを含む動物の性について、「連続する表現型スペクトラム」という新たな概念を提唱した。また、ヒト性分化や性成熟に関与する多くの新規因子を見出した。さらに本研究によって、性染色体進化の理解が深まった。われわれの研究の成果は、社会におけるヒトの多様性の理解の基盤となる。また、本研究によって得られた知見は、性分化疾患、性成熟疾患、精子形成不全症の新規診断法や重症化予防法の開発につながる。
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