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.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Animals
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Carcinoma, Squamous Cell / genetics
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Cell Differentiation / genetics*
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Cells, Cultured
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Chromosome Aberrations
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DNA Mutational Analysis
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Disorders of Sex Development
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Female
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Genetic Predisposition to Disease*
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Humans
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Keratoderma, Palmoplantar / genetics
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Male
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Mice
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Mice, Inbred C57BL
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Mice, Inbred CBA
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Mutation
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Pedigree
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Sex Determination Processes*
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Skin / cytology*
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Skin / embryology
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Skin Neoplasms / genetics*
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Thrombospondins / genetics*
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Thrombospondins / physiology*
Substances
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RSPO1 protein, human
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Thrombospondins