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2020 Fiscal Year Final Research Report

EFFECT OF MATERNAL DIET AND NUTRITIONAL STATUS ON MAMMALIAN SEX DETERMINATION

Research Project

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Project/Area Number 19K16490
Research Category

Grant-in-Aid for Early-Career Scientists

Allocation TypeMulti-year Fund
Review Section Basic Section 48020:Physiology-related
Research InstitutionGifu University (2020)
Osaka University (2019)

Principal Investigator

Miyawaki Shingo  岐阜大学, 応用生物科学部, 助教 (70756759)

Project Period (FY) 2019-04-01 – 2021-03-31
KeywordsSry / 性決定 / ゲノム編集 / マウス / Cryptic exon
Outline of Final Research Achievements

The mammalian sex-determining gene Sry induces male development. Since its discovery 30 years ago, Sry has been believed to be a single-exon gene. Here, we identified a cryptic second exon of mouse Sry and a corresponding novel transcript, two-exon Sry (Sry-T). XY mice lacking Sry-T were sex-reversed, and ectopic expression of Sry-T in XX mice induced male development. Sry-T mRNA is expressed similarly to that of canonical, single-exon Sry (Sry-S), but SRY-T protein is expressed predominantly, due to the absence of a degron which we identified in the C-terminus of SRY-S. Sry exon2 appears to have evolved recently in mice, through acquisition of retrotransposon-derived coding sequence to replace the degron. Our findings suggest that in nature, SRY-T, not SRY-S, is the bona fide testis-determining factor.

Free Research Field

発生生物学

Academic Significance and Societal Importance of the Research Achievements

本研究では、マウスの性決定遺伝子Sryにはこれまで知られていなかった“隠れエキソン”が存在し、そのエキソンは真の性決定因子であるSRY-Tをコードしていることを世界で初めて明らかにした。生物学の大きなテーマのひとつである性決定において、鍵となる重要な遺伝子Sryの全体像が解明されたことになる。この発見はほ乳類の性決定の仕組みの解明と、性決定遺伝子の進化の理解につながると期待される。

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Published: 2022-01-27  

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