Molecular basis of human sex spectrum

2021 Fiscal Year Final Research Report

• Project Area: Spectrum of the Sex: a continuity of phenotypes between female and male
• Project/Area Number: 17H06428
• Research Category: Grant-in-Aid for Scientific Research on Innovative Areas (Research in a proposed research area)
• Allocation Type: Single-year Grants
• Review Section: Biological Sciences
• 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)
• Co-Investigator(Kenkyū-buntansha): 緒方 勤 浜松医科大学, 医学部, 特命研究教授 (40169173)
• Project Period (FY): 2017-06-30 – 2022-03-31
• 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.

Free Research Field

分子内分泌学

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。