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

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...

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Veröffentlicht in:	Nature genetics 2006-11, Vol.38 (11), p.1304-1309
Hauptverfasser:	Guerra, Liliana, Radi, Orietta, Valentini, Stella, Camerino, Giovanna, Vidal, Valerie, Dellambra, Elena, Chaboissier, Marie Christine, Schedl, Andreas, Parma, Pietro
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Biological and medical sciences Carcinoma, Squamous Cell - genetics Cell Differentiation - genetics Cells, Cultured Chromosome Aberrations Chromosomes Complications and side effects Diagnosis Disorders of Sex Development DNA Mutational Analysis Female Fundamental and applied biological sciences. Psychology Gender Gene mutations Genetic aspects Genetic Predisposition to Disease Genetic screening Genetics Genetics of eukaryotes. Biological and molecular evolution Growth factors Health aspects Humans Identification and classification Keratoderma, Palmoplantar - genetics Male Methods Mice Mice, Inbred C57BL Mice, Inbred CBA Mutation Pedigree Risk factors Sex Determination Processes Skin - cytology Skin - embryology Skin cancer Skin Neoplasms - genetics Squamous cell carcinoma Thrombospondins - genetics Thrombospondins - physiology
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Zusammenfassung:	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.
ISSN:	1061-4036 1546-1718
DOI:	10.1038/ng1907