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

By P. Parma, O. Radi, V. Vidal, Marie-Christine Chaboissier, E. Dellambra, Stella Valentini, L. Guerra, A. Schedl, G. Camerino. Nature Genetics, 2006

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The mammalian ovary from genesis to revelation. (2009, background): “All individuals with this syndrome are phenotypic males (either XY or XX), the first such case of complete XX female-to-male sex reversal (90).”
The R-spondin/Lgr5/Rnf43 module: regulator of Wnt signal strength (2014, positive): “Mutations affecting the function of R-spondin-1 lead to a rare human syndrome that combines SRY-independent, XX male sex reversal with palmoplantar hyperkeratosis (an abnormal thickening of the palms and sole) and a predisposition to squamous cell carcinoma of the skin (Parma et al. 2006).”
Somatic sex reprogramming of adult ovaries to testes by FOXL2 ablation. (2009, neutral): “Cases of human XX male development have been attributed to homozygous null mutations in RSPO1 (Parma et al., 2006), or with LOF mutations in WNT4 associated with SERKAL syndrome (Mandel et al., 2008), which might suggest that human sex determination is more sensitive than mouse to levels of…”
Wnt/β-catenin signaling and disease. (2012, positive): “RSPO1 is the gene disrupted in a recessive syndrome characterized by XX sex reversal, a skin abnormality called palmoplantar hyperkeratosis, and predisposition to squamous cell carcinomas (Parma et al., 2006).”