R-spondin1 - discovery of the long-missing, mammalian female-determining gene?

Bioessays 29 (4):314-318 (2007)

Dagmar Wilhelm
University of the West of England
Until recently, sex determination in mammals has often been described as a male determination process, with male differentiation being the active and dominant pathway, and only in its absence is the passive female pathway followed. This picture has been challenged recently with the discovery that the gene encoding R-spondin1 is mutated in human patients with female-to-male sex reversal.((1)) These findings might place R-spondin1 in the exceptional position of being the female-determining gene in mammals. In this review, possible roles of R-spondin1 during sex determination as well as questions arising from this study will be discussed
Keywords 060403 Developmental Genetics (incl. Sex Determination)  Biochemistry & Molecular Biology   Biology   Sex Determination   Cell Differentiation   Ovarian Failure   R-spondin   Expression   Foxl2   Granulosa   Wnt-4   Maintenance   Anonychia
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DOI 10.1002/bies.20553
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