RSPO1
MIM.609595 1p34.3
R-spondins are a recently characterized small family of growth factors.
Pathology
Human R-spondin1 (RSPO1) is a gene disrupted in a recessive syndrome characterized by XX sex reversal, palmoplantar hyperkeratosis and predisposition to squamous cell carcinoma of the skin.
The disruption of this single gene can lead to complete female-to-male sex reversal in the absence of the testis-determining gene, SRY.
See also
RSPOs
sex-determining genes: SRY, SOX9
Open references
Human RSPO1/R-spondin1 is expressed during early ovary development and augments β-catenin signaling. Tomaselli S, Megiorni F, Lin L, Mazzilli MC, Gerrelli D, Majore S, Grammatico P, Achermann JC. PLoS One. 2011 Jan 28;6(1):e16366. PMID: #21297984# [Free]
References
R-spondin1 is essential in sex determination, skin differentiation and malignancy. Parma P, Radi O, Vidal V, Chaboissier MC, Dellambra E, Valentini S, Guerra L, Schedl A, Camerino G. Nat Genet. 2006 Nov;38(11):1304-9. PMID: #17041600#
R-Spondin proteins: a novel link to beta-catenin activation. Kim KA, Zhao J, Andarmani S, Kakitani M, Oshima T, Binnerts ME, Abo A, Tomizuka K, Funk WD. Cell Cycle. 2006 Jan;5(1):23-6. PMID: #16357527#
Inducing intestinal growth. Abraham C, Cho JH. N Engl J Med. 2005 Nov 24;353(21):2297-9. PMID: #16306530#
Mitogenic influence of human R-spondin1 on the intestinal epithelium. Kim KA, Kakitani M, Zhao J, Oshima T, Tang T, Binnerts M, Liu Y, Boyle B, Park E, Emtage P, Funk WD, Tomizuka K. Science. 2005 Aug 19;309(5738):1256-9. PMID: #16109882#