The mouse Sry locus harbors a cryptic exon that is essential for male sex determination
Journal | Science 370(6512):121-124 (2020) |
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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)
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PubMed | 33004521 |