Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
, 38 (11), 1304-9

R-spondin1 Is Essential in Sex Determination, Skin Differentiation and Malignancy

Affiliations

R-spondin1 Is Essential in Sex Determination, Skin Differentiation and Malignancy

Pietro Parma et al. Nat Genet.

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.

Comment in

Similar articles

See all similar articles

Cited by 163 PubMed Central articles

See all "Cited by" articles

Publication types

MeSH terms

LinkOut - more resources

Feedback