4.8 Article

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

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NATURE GENETICS
卷 38, 期 11, 页码 1304-1309

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NATURE PUBLISHING GROUP
DOI: 10.1038/ng1907

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  1. Telethon [GGP06252] Funding Source: Medline

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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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