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R-spondin1 is essential in sex determination, skin differentiation and malignancy
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R-spondin1 is essential in sex determination, skin differentiation and malignancy
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Journal Article
R-spondin1 is essential in sex determination, skin differentiation and malignancy
2006
Overview
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
.
Publisher
Nature Publishing Group US,Nature Publishing Group
Subject
/ Animal Genetics and Genomics
/ Animals
/ Biological and medical sciences
/ Biomedical and Life Sciences
/ Carcinoma, Squamous Cell - genetics
/ Cell Differentiation - genetics
/ Complications and side effects
/ Disorders of Sex Development
/ Female
/ Fundamental and applied biological sciences. Psychology
/ Gender
/ Genetic Predisposition to Disease
/ Genetics
/ Genetics of eukaryotes. Biological and molecular evolution
/ Humans
/ Identification and classification
/ Keratoderma, Palmoplantar - genetics
/ letter
/ Male
/ Methods
/ Mice
/ Mutation
/ Pedigree
