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

Author:

Miyawaki Shingo12ORCID,Kuroki Shunsuke12ORCID,Maeda Ryo12,Okashita Naoki12,Koopman Peter3ORCID,Tachibana Makoto12ORCID

Affiliation:

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.

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

Funder

Japan Society for the Promotion of Science

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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