R-spondin1 is essential in sex determination, skin differentiation and malignancy |
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| Authors: | Parma Pietro Radi Orietta Vidal Valerie Chaboissier Marie Christine Dellambra Elena Valentini Stella Guerra Liliana Schedl Andreas Camerino Giovanna |
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| Institution: | Dipartimento di Patologia Umana ed Ereditaria, Sezione di Biologia Generale e Genetica Medica, Università di Pavia, Via Forlanini 14, 27100 Pavia, Italy. |
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| Abstract: | R-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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