Mechanism of Sex Determination by the Sex-Determining Gene Sry-T

2023 Fiscal Year Final Research Report

• Project/Area Number: 21K19262
• 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: Osaka University
• Principal Investigator: Kuroki Shunsuke 大阪大学, 大学院生命機能研究科, 准教授 (50735793)
• Project Period (FY): 2021-07-09 – 2024-03-31
• Keywords: 性決定

Outline of Final Research Achievements

The Sry gene on the mammalian Y chromosome is the master transcriptional regulator that induces male differentiation. However, despite nearly 30 years passing since the discovery of Sry in 1991, the functional binding partners that allow Sry to induce male differentiation have remained unidentified. In this study, we utilized the BioID method to identify two potential interacting genes with Sry. We generated knockout mice for these genes using genome editing and examined whether XY individuals underwent sex reversal to females. We found that homozygous knockout of one of the genes caused XY individuals to develop as females, suggesting this gene may be an essential cofactor for Sry in sex determination.

Free Research Field

発生生物学

Academic Significance and Societal Importance of the Research Achievements

ほ乳類Y染色体上の遺伝子Sryは、雄への分化を誘導する性決定のマスター転写因子である。しかし、1991年にSryが発見されてから約30年が経つにも関わらず、Sryが雄分化を誘導する際の機能的な結合パートナーは未だに同定されていない。本研究では、BIoID法を駆使してSry-Tと相互作用する可能性のある2つの遺伝子を同定した。本研究成果は、ほ乳類性決定の新たなメカニズム解明に繋がることが期待される。