R-spondin1 is essential in sex determination, skin differentiation and malignancy
Top Cited Papers
- 15 October 2006
- journal article
- research article
- Published by Springer Nature in Nature Genetics
- Vol. 38 (11) , 1304-1309
- https://doi.org/10.1038/ng1907
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.Keywords
This publication has 23 references indexed in Scilit:
- Fgf9 and Wnt4 Act as Antagonistic Signals to Regulate Mammalian Sex DeterminationPLoS Biology, 2006
- R-Spondin Proteins: A Novel Link to β-catenin ActivationCell Cycle, 2005
- Association of palmoplantar keratoderma, cutaneous squamous cell carcinoma, dental anomalies, and hypogenitalism in four siblings with 46,XX karyotype: A new syndromePublished by Elsevier ,2005
- XX sex reversal, palmoplantar keratoderma, and predisposition to squamous cell carcinoma: Genetic analysis in one familyAmerican Journal of Medical Genetics Part A, 2005
- The pathway to femaleness: current knowledge on embryonic development of the ovaryMolecular and Cellular Endocrinology, 2005
- Interactions between Sox9 and β-catenin control chondrocyte differentiationGenes & Development, 2004
- Long-range activation of Sox9 in Odd Sex (Ods) miceHuman Molecular Genetics, 2004
- Frontiers in keratodermas: pushing the envelopeTrends in Genetics, 1997
- Handbook of Human Genetic Linkage.Published by JSTOR ,1996
- Male development of chromosomally female mice transgenic for SryNature, 1991