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

Shingo Miyawaki, Shunsuke Kuroki, Ryo Maeda, Naoki Okashita, Peter Koopman, Makoto Tachibana

2020Science59 citationsDOI

Abstract

Two rather than one For several decades, it has been believed that the mammalian sex-determining gene Sry contains a single exon. Miyawaki et al. have now identified a cryptic second exon of mouse Sry . Loss- and gain-of-function analyses revealed that the two-exon SRY (SRY-T), not the canonical single exon–encoded SRY (SRY-S), is the bona fide testis-determining factor. Sry exon2 is composed of retrotransposon-derived sequences. The SRY-S carboxyl terminus contains a degradation sequence (degron), whereas the SRY-T carboxyl terminus encoded in the Sry exon2 is degron free, thereby conferring protein stability on SRY-T. Science , this issue p. 121

Topics & Concepts

Testis determining factorExonGeneticsBiologyDegronSex reversalY chromosomeGeneMolecular biologyUbiquitinUbiquitin ligaseGenetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesSexual Differentiation and DisordersSperm and Testicular Function
The mouse <i>Sry</i> locus harbors a cryptic exon that is essential for male sex determination | Litcius