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Nat Genet. 2006 Nov;38(11):1304-9. Epub 2006 Oct 15.

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

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1
Dipartimento di Patologia Umana ed Ereditaria, Sezione di Biologia Generale e Genetica Medica, Università di Pavia, Via Forlanini 14, 27100 Pavia, Italy.

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.

PMID:
17041600
DOI:
10.1038/ng1907
[Indexed for MEDLINE]
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