Exploring factors that drive sexual differentiation of external genitalia

2020 Fiscal Year Final Research Report

• Project/Area Number: 18H02474
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Single-year Grants
• Section: 一般
• Review Section: Basic Section 44040:Morphology and anatomical structure-related
• Research Institution: Tokyo University of Science
• Principal Investigator: MIYAGAWA SHINICHI 東京理科大学, 基礎工学部生物工学科, 准教授 (30404354)
• Project Period (FY): 2018-04-01 – 2021-03-31
• Keywords: 外生殖器 / アンドロゲン / 性分化

Outline of Final Research Achievements

The mechanism of sexual differentiation of the external genitalia, which is regulated by the hormonal environment, remains unclear. In this study, we identified that several parameters that prescribe hormone-dependent development and morphology of external genitalia by computed tomography (CT) scan analysis, and were able to quantitatively evaluate the phenotype of the mouse external genitalia. In addition, gene expression in the fetal external genitalia was analyzed by RNA sequencing, and identified several differential expression genes (DEGs) which gene expression depends on hormonal environment during embryonic development. The results provide a basis for accurate evaluation of the degree of sexual differentiation between males and females at the genetic level.

Free Research Field

発生内分泌学

Academic Significance and Societal Importance of the Research Achievements

尿道下裂の発症頻度は1/200-1/300とされ、非常に頻度の高い先天性疾患である。新生児期の外性器異常は、社会的な性の決定に関わる大きな問題であることから、正確な医学的評価と根拠を要する。本研究によって得られる知見は、生殖器系に係わる診断技術や治療などの医療行為を実践するための基本的知識を提供すると共に、これら先天性疾患の原因解明の基礎となることが期待される。本研究によって推進される性分化や疾患に対する理解は、性の多様性の理解にもつながる。