title: R-spondin1 is essential in sex determination, skin differentiation and malignancy.
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.
authors.affiliation: Dipartimento di Patologia Umana ed Ereditaria, Sezione di Biologia Generale e Genetica Medica, Università di Pavia, Via Forlanini 14, 27100 Pavia, Italy.
authors.forename: Pietro
authors.initials: P
authors.lastname: Parma
authors.forename: Orietta
authors.initials: O
authors.lastname: Radi
authors.forename: Valerie
authors.initials: V
authors.lastname: Vidal
authors.forename: Marie Christine
authors.initials: MC
authors.lastname: Chaboissier
authors.forename: Elena
authors.initials: E
authors.lastname: Dellambra
authors.forename: Stella
authors.initials: S
authors.lastname: Valentini
authors.forename: Liliana
authors.initials: L
authors.lastname: Guerra
authors.forename: Andreas
authors.initials: A
authors.lastname: Schedl
authors.forename: Giovanna
authors.initials: G
authors.lastname: Camerino
mesh_terms: D000818:Animals; D002294:Carcinoma, Squamous Cell / Q000235:genetics; D002454:Cell Differentiation / Q000235:genetics*; D002478:Cells, Cultured; D002869:Chromosome Aberrations; D004252:DNA Mutational Analysis; D012734:Disorders of Sex Development; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics; D008297:Male; D051379:Mice; D008810:Mice, Inbred C57BL; D008808:Mice, Inbred CBA; D009154:Mutation; D010375:Pedigree; D019849:Sex Determination Processes; D012867:Skin / Q000166:cytology* / Q000196:embryology; D012878:Skin Neoplasms / Q000235:genetics*; D019699:Thrombospondins / Q000235:genetics* / Q000502:physiology*; D000098907:R-Spondins
chemical_list: D019699:Thrombospondins; C503243:RSPO1 protein, human; D000098907:R-Spondins