new approach to elucidate molecular mechanisms of sexual differentiation

2023 Fiscal Year Final Research Report

• Project/Area Number: 21K19283
• Research Category: Grant-in-Aid for Challenging Research (Exploratory)
• Allocation Type: Multi-year Fund
• Review Section: Medium-sized Section 44:Biology at cellular to organismal levels, and related fields
• 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)
• Project Period (FY): 2021-07-09 – 2024-03-31
• Keywords: ゲノム / 遺伝子 / ホルモン

Outline of Final Research Achievements

This study aimed to elucidate the molecular mechanisms of sexual differentiation and reproduction in humans from a new perspective. We investigated the etiologies of disorders of sex development (DSD) and reproductive dysfunctions, which occur as monogenic abnormalities or multifactorial disorders. This study clarified novel pathogenesis of DSD, ovarian failure, and spermatogenic failure. We also studied the pathological significance of liquid-liquid phase separation and novel androgens (11-oxygenated C19 steroids). These results were published in English papers.

Free Research Field

人類遺伝学

Academic Significance and Societal Importance of the Research Achievements

性分化疾患は遺伝的異質性を有する疾患であり、その原因と病態には未解明な点が多い。本研究の成果は、ヒト性分化や生殖機能の分子基盤の理解につながるのみならず、性分化疾患患者・生殖機能障害患者の診断と治療に役立つ。