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The mouse Sry locus harbors a cryptic exon that is essential for male sex determination

Journal Science 370(6512):121-124 (2020)
Title The mouse Sry locus harbors a cryptic exon that is essential for male sex determination
Laboratory Laboratory of Epigenome Dynamics〈Prof. TACHIBANA Makoto〉
Abstract

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 two-exon type Sry (Sry-T) transcript. XY mice lacking Sry-T were sex-reversed, and ectopic expression of Sry-T in XX mice induced male development. Sry-T messenger RNA is expressed similarly to that of canonical single-exon type Sry (Sry-S), but SRY-T protein is expressed predominantly because of the absence of a degron in the C terminus of SRY-S. Sry exon2 appears to have evolved recently in mice through acquisition of a 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.

Authors

Shingo Miyawaki (1, 2), Shunsuke Kuroki (1, 2), Ryo Maeda (1, 2), Naoki Okashita (1, 2), Peter Koopman (3), Makoto Tachibana (1, 2)

  1. Laboratory of Epigenome Dynamics, Graduate School of Frontier Biosciences, Osaka University, 1-3 Yamadaoka, Suita, Osaka, 565-0871, Japan.
  2. Division of Epigenome Dynamics, Institute of Advanced Medical Sciences, Tokushima University, 3-18-15 Kuramoto-Cho, Tokushima, 770-8503, Japan.
  3. Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland 4072, Australia.
PubMed 33004521

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