R-spondin1 is essential in sex determination, skin differentiation and malignancy
P Parma, O Radi, V Vidal, MC Chaboissier… - Nature …, 2006 - nature.com
Nature genetics, 2006•nature.com
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.
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.
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.
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