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Publication : The mouse <i>Sry</i> locus harbors a cryptic exon that is essential for male sex determination.

First Author  Miyawaki S Year  2020
Journal  Science Volume  370
Issue  6512 Pages  121-124
PubMed ID  33004521 Mgi Jnum  J:297093
Mgi Id  MGI:6471836 Doi  10.1126/science.abb6430
Citation  Miyawaki S, et al. (2020) The mouse Sry locus harbors a cryptic exon that is essential for male sex determination. Science 370(6512):121-124
abstractText  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.
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