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 testisdetermining gene, SRY.
R-spondin1 is essential in sex determination, skin differentiation and malignancy / P. Parma, O. Radi, V. Vidal, M.C. Chaboissier, E. Dellambra, S. Valentini, L. Guerra, A. Schedl, G. Camerino. - In: NATURE GENETICS. - ISSN 1061-4036. - 38:11(2006), pp. 1304-1309.
R-spondin1 is essential in sex determination, skin differentiation and malignancy
P. ParmaPrimo
;
2006
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 testisdetermining gene, SRY.
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