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A Y-linked anti-Müllerian hormone duplication takes over a critical role in sex determination

2012; National Academy of Sciences; Volume: 109; Issue: 8 Linguagem: Inglês

10.1073/pnas.1018392109

1091-6490

Ricardo Shohei Hattori, Yu Murai, M. Oura, Shuji Masuda, Sullip Kumar Majhi, Takashi Sakamoto, Juan I. Fernandino, Gustavo M. Somoza, Masashi Yokota, Carlos Augusto Strüssmann,

Animal Genetics and Reproduction

Gonadal sex determination in vertebrates generally follows a sequence of genetically programmed events. In what is seemingly becoming a pattern, all confirmed or current candidate “master” sex-determining genes reported in this group, e.g., SRY in eutherian mammals, DMY/dmrt1bY in medaka, DM-W in the African clawed frog, and DMRT1 in chicken encode transcription factors. In contrast, here we show that a male-specific, duplicated copy of the anti-Müllerian hormone ( amh ) is implicated in testicular development of the teleost fish Patagonian pejerrey ( Odontesthes hatcheri ) . The gene, termed amhy because it is found in a single metacentric/submetacentric chromosome of XY individuals, is expressed much earlier than the autosomal amh (6 d after fertilization vs. 12 wk after fertilization) and is localized to presumptive Sertoli cells of XY males during testicular differentiation. Moreover, amhy knockdown in XY embryos resulted in the up-regulation of foxl2 and cyp19a1a mRNAs and the development of ovaries. These results are evidence of a functional amh duplication in vertebrates and suggest that amhy may be the master sex-determining gene in this species. If confirmed, this would be a unique instance of a hormone-related gene, a member of the TGF-β superfamily, in such a role.