Nature Genetics
- 38, 1304 - 1309 (2006)
Published online: 15 October 2006; | doi:10.1038/ng1907
R-spondin1 is essential in sex determination, skin differentiation and malignancyPietro Parma1, 4, Orietta Radi1, 4, Valerie Vidal2, Marie Christine Chaboissier2, Elena Dellambra3, Stella Valentini1, Liliana Guerra3, Andreas Schedl2 & Giovanna Camerino11
Dipartimento di Patologia Umana ed Ereditaria, Sezione di Biologia Generale e Genetica Medica, Università di Pavia, Via Forlanini 14, 27100 Pavia, Italy. 2
INSERM U636, Centre de Biochimie, Faculté des Sciences, Parc Valrose, 06108 Nice, France. 3
Laboratorio di Ingegneria dei Tessuti e Fisiopatologia Cutanea, Istituto Dermopatico dell'Immacolata-IRCCS, Via dei Monti di Creta 104, 00167 Roma, Italy. 4
These authors contributed equally to this work.
Correspondence should be addressed to Giovanna Camerino camerino@unipv.it RSPO1SRYR-spondins are a recently characterized small family of growth factors. Here we show that human R-spondin1 (RSPO1) is the gene disrupted in a recessive syndrome characterized by XX sex reversal, palmoplantar hyperkeratosis and predisposition to squamous cell carcinoma of the skin. Our data show, for the first time, that disruption of a single gene can lead to complete female-to-male sex reversal in the absence of the testis-determining gene, SRY.
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