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Abstract

Volume 14, Issue 1 (January 2012) 14, 164–171; 10.1038/aja.2011.169

Male sex determination: insights into molecular mechanisms

Kathryn McClelland, Josephine Bowles and Peter Koopman

Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD 4072, Australia

Correspondence: Prof P Koopman, (p.koopman@imb.uq.edu.au)

Received 4 September 2011; Revised 7 October 2011; Accepted 19 October 2011; Published online 19 December 2011

Abstract

Disorders of sex development often arise from anomalies in the molecular or cellular networks that guide the differentiation of the embryonic gonad into either a testis or an ovary, two functionally distinct organs. The activation of the Y-linked gene Sry (sex-determining region Y) and its downstream target Sox9 (Sry box-containing gene 9) triggers testis differentiation by stimulating the differentiation of Sertoli cells, which then direct testis morphogenesis. Once engaged, a genetic pathway promotes the testis development while actively suppressing genes involved in ovarian development. This review focuses on the events of testis determination and the struggle to maintain male fate in the face of antagonistic pressure from the underlying female programme.

Keywords: gonadal; knockout; mice; sex determination; sex-determining region Y protein; sex disorders; sex reversal; sexual development; testis

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