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Letter

Nature Genetics 38, 1304–1309 (1 November 2006) | doi:10.1038/ng1907

R-spondin1 is essential in sex determination, skin differentiation and malignancy

Pietro Parma , Orietta Radi , Valerie Vidal , Marie Christine Chaboissier , Elena Dellambra , Stella Valentini , Liliana Guerra , Andreas Schedl & Giovanna Camerino

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.