R-spondin 4 explained

For chromosome 20, R-spondin 4 is a protein in humans that is encoded by the RSPO4 gene.^[1] This gene encodes a member of the R-spondin family of proteins that share a common domain organization consisting of a signal peptide, cysteine-rich/furin-like domain, thrombospondin domain and a C-terminal basic region. The encoded protein may be involved in activation of Wnt/beta-catenin signaling pathways. Mutations in this gene are associated with anonychia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009].

Further reading

• Nakamura . M. . Miyachi . Y. . 10.2340/00015555-0476 . Congenital Hyponychia without RSPO4 Mutation . Acta Dermato Venereologica . 88 . 5 . 511–512 . 2008 . 18779895 . free .
• Chishti . M. S. . Kausar . N. . Rafiq . M. A. . Amin . M. . Ahmad . W. . A novel missense mutation in RSPO4 gene underlies autosomal recessive congenital anonychia in a consanguineous Pakistani family . 10.1111/j.1365-2133.2007.08365.x . British Journal of Dermatology . 158 . 3 . 621–623 . 2007 . 18070203 . 42671434 .
• Brüchle . N. O. . Frank . J. . Frank . V. . Senderek . J. . Akar . A. . Koc . E. . Rigopoulos . D. . Van Steensel . M. . Zerres . K. . 10.1038/sj.jid.5701088 . Bergmann . C. . RSPO4 is the Major Gene in Autosomal-Recessive Anonychia and Mutations Cluster in the Furin-Like Cysteine-Rich Domains of the Wnt Signaling Ligand R-spondin 4 . Journal of Investigative Dermatology . 128 . 4 . 791–796 . 2007 . 17914448 . free .
• Blaydon . D. C. . Ishii . Y. . O'Toole . E. A. . Unsworth . H. C. . Teh . M. T. . Rüschendorf . F. . Sinclair . C. . Hopsu-Havu . V. I. K. . Tidman . N. . 10.1038/ng1883 . Moss . C. . Watson . R. . De Berker . D. . Wajid . M. . Christiano . A. M. . Kelsell . D. P. . The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia . Nature Genetics . 38 . 11 . 1245–1247 . 2006 . 17041604 . 23404430 .
• Kim . K. A. . Zhao . J. . Andarmani . S. . Kakitani . M. . Oshima . T. . Binnerts . M. E. . Abo . A. . Tomizuka . K. . Funk . W. D. . R-Spondin proteins: A novel link to beta-catenin activation . Cell Cycle . 5 . 1 . 23–26 . 2006 . 16357527 . 10.4161/cc.5.1.2305. free .
• Seitz . C. S. . Van Steensel . M. . Frank . J. . Senderek . J. . Zerres . K. . Hamm . H. . Bergmann . C. . 10.1111/j.1365-2133.2007.08059.x . The Wnt signalling ligand RSPO4, causing inherited anonychia, is not mutated in a patient with congenital nail hypoplasia/aplasia with underlying skeletal defects . British Journal of Dermatology . 157 . 4 . 801–802 . 2007 . 17596144 . 873173 .
• Bergmann . C. . Senderek . J. . Anhuf . D. . Thiel . C. T. . Ekici . A. B. . Poblete-Gutiérrez . P. . Van Steensel . M. . Seelow . D. . Nürnberg . G. . Schild . 10.1086/509789 . H. H. . Nürnberg . P. . Reis . A. . Frank . J. . Zerres . K. . Mutations in the Gene Encoding the Wnt-Signaling Component R-Spondin 4 (RSPO4) Cause Autosomal Recessive Anonychia . The American Journal of Human Genetics . 79 . 6 . 1105–1109 . 2006 . 17186469 . 1698700 .
• Ishii . Y. . Wajid . M. . Bazzi . H. . Fantauzzo . K. A. . Barber . A. G. . Blaydon . D. C. . Nam . J. S. . Yoon . J. K. . Kelsell . D. P. . 10.1038/sj.jid.5701078 . Christiano . A. M. . Mutations in R-Spondin 4 (RSPO4) Underlie Inherited Anonychia . Journal of Investigative Dermatology . 128 . 4 . 867–870 . 2007 . 17805348 . free .

Notes and References

1. Web site: Entrez Gene: R-spondin 4. 2012-07-09 .