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For chromosome 20, R-spondin 4 is a protein in humans that is encoded by the RSPO4 gene. 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..
References
- "Entrez Gene: R-spondin 4". Retrieved 2012-07-09.
Further reading
- Nakamura, M.; Miyachi, Y. (2008). "Congenital Hyponychia without RSPO4 Mutation". Acta Dermato Venereologica. 88 (5): 511–512. doi:10.2340/00015555-0476. PMID 18779895.
- Chishti, M. S.; Kausar, N.; Rafiq, M. A.; Amin, M.; Ahmad, W. (2007). "A novel missense mutation in RSPO4 gene underlies autosomal recessive congenital anonychia in a consanguineous Pakistani family". British Journal of Dermatology. 158 (3): 621–623. doi:10.1111/j.1365-2133.2007.08365.x. PMID 18070203. S2CID 42671434.
- Brüchle, N. O.; Frank, J.; Frank, V.; Senderek, J.; Akar, A.; Koc, E.; Rigopoulos, D.; Van Steensel, M.; Zerres, K.; Bergmann, C. (2007). "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. doi:10.1038/sj.jid.5701088. PMID 17914448.
- 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.; Moss, C.; Watson, R.; De Berker, D.; Wajid, M.; Christiano, A. M.; Kelsell, D. P. (2006). "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. doi:10.1038/ng1883. PMID 17041604. S2CID 23404430.
- Kim, K. A.; Zhao, J.; Andarmani, S.; Kakitani, M.; Oshima, T.; Binnerts, M. E.; Abo, A.; Tomizuka, K.; Funk, W. D. (2006). "R-Spondin proteins: A novel link to beta-catenin activation". Cell Cycle. 5 (1): 23–26. doi:10.4161/cc.5.1.2305. PMID 16357527.
- Seitz, C. S.; Van Steensel, M.; Frank, J.; Senderek, J.; Zerres, K.; Hamm, H.; Bergmann, C. (2007). "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. doi:10.1111/j.1365-2133.2007.08059.x. PMID 17596144. S2CID 873173.
- Bergmann, C.; Senderek, J.; Anhuf, D.; Thiel, C. T.; Ekici, A. B.; Poblete-Gutiérrez, P.; Van Steensel, M.; Seelow, D.; Nürnberg, G.; Schild, H. H.; Nürnberg, P.; Reis, A.; Frank, J.; Zerres, K. (2006). "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. doi:10.1086/509789. PMC 1698700. PMID 17186469.
- Ishii, Y.; Wajid, M.; Bazzi, H.; Fantauzzo, K. A.; Barber, A. G.; Blaydon, D. C.; Nam, J. S.; Yoon, J. K.; Kelsell, D. P.; Christiano, A. M. (2007). "Mutations in R-Spondin 4 (RSPO4) Underlie Inherited Anonychia". Journal of Investigative Dermatology. 128 (4): 867–870. doi:10.1038/sj.jid.5701078. PMID 17805348.
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