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

作者：Shingo Miyawaki, Shunsuke Kuroki, Ryo Maeda, Naoki Okashita, Peter A. Koopman, Makoto Tachibana · 发表于：Science · 年份：2020 · DOI：10.1126/science.abb6430 · 被引用次数：60 · 研究领域：Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities、Sexual Differentiation and Disorders、Sperm and Testicular Function

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