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

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)1304-1309
Number of pages6
JournalNature Genetics
Volume38
Issue number11
DOIs
Publication statusPublished - Nov 23 2006

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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