R-spondin 2
R-spondin 2 also known as roof plate-specific spondin-2 is a secreted protein that in humans that is encoded by the RSPO2 gene.[5]
R-spondin 2 synergizes with canonical WNT to activate beta-catenin.[6][7] RSPO2 has been proposed to regulate craniofacial patterning and morphogenesis within pharyngeal arch 1 through ectoderm-mesenchyme signaling via the endothelin-Dlx5/6 pathway.[8]
In dogs, a variant on the Rspo2 gene is associated moustache and eyebrow thickness.[9]
In humans, recessive mutations in RSPO2 abrogate limb and lung development. Bruno Reversade and colleagues have reported in 2018 that loss of RSPO2 results in a syndrome of Tetra-amelia with lung agenesis. [10]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000147655 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000051920 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Entrez Gene: R-spondin 2".
- ^ Kim KA, Zhao J, Andarmani S, Kakitani M, Oshima T, Binnerts ME, et al. (January 2006). "R-Spondin proteins: a novel link to beta-catenin activation". Cell Cycle. 5 (1): 23–6. doi:10.4161/cc.5.1.2305. PMID 16357527.
- ^ Kazanskaya O, Glinka A, del Barco Barrantes I, Stannek P, Niehrs C, Wu W (October 2004). "R-Spondin2 is a secreted activator of Wnt/beta-catenin signaling and is required for Xenopus myogenesis". Developmental Cell. 7 (4): 525–34. doi:10.1016/j.devcel.2004.07.019. PMID 15469841.
- ^ Jin YR, Turcotte TJ, Crocker AL, Han XH, Yoon JK (April 2011). "The canonical Wnt signaling activator, R-spondin2, regulates craniofacial patterning and morphogenesis within the branchial arch through ectodermal-mesenchymal interaction". Developmental Biology. 352 (1): 1–13. doi:10.1016/j.ydbio.2011.01.004. PMC 3089906. PMID 21237142.
- ^ Cadieu E, Neff MW, Quignon P, Walsh K, Chase K, Parker HG, et al. (October 2009). "Coat variation in the domestic dog is governed by variants in three genes". Science. 326 (5949): 150–3. Bibcode:2009Sci...326..150C. doi:10.1126/science.1177808. PMC 2897713. PMID 19713490.
- ^ Szenker-Ravi E, Altunoglu U, Leushacke M, Bosso-Lefèvre C, Khatoo M, Thi Tran H, et al. (May 2018). "RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6". Nature. 557 (7706): 564–569. Bibcode:2018Natur.557..564S. doi:10.1038/s41586-018-0118-y. PMID 29769720. S2CID 21712936.
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