R-spondin 2 explained

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.^[1]

R-spondin 2 synergizes with canonical WNT to activate beta-catenin.^{[2] [3]} RSPO2 has been proposed to regulate craniofacial patterning and morphogenesis within pharyngeal arch 1 through ectoderm-mesenchyme signaling via the endothelin-Dlx5/6 pathway.^[4]

In dogs, a variant on the Rspo2 gene is associated moustache and eyebrow thickness.^[5]

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. ^[6]

Notes and References

1. Web site: Entrez Gene: R-spondin 2 .
2. Kim KA, Zhao J, Andarmani S, Kakitani M, Oshima T, Binnerts ME, Abo A, Tomizuka K, Funk WD . 6 . R-Spondin proteins: a novel link to beta-catenin activation . Cell Cycle . 5 . 1 . 23–6 . January 2006 . 16357527 . 10.4161/cc.5.1.2305 . free .
3. Kazanskaya O, Glinka A, del Barco Barrantes I, Stannek P, Niehrs C, Wu W . R-Spondin2 is a secreted activator of Wnt/beta-catenin signaling and is required for Xenopus myogenesis . Developmental Cell . 7 . 4 . 525–34 . October 2004 . 15469841 . 10.1016/j.devcel.2004.07.019 . free .
4. Jin YR, Turcotte TJ, Crocker AL, Han XH, Yoon JK . 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 . April 2011 . 21237142 . 3089906 . 10.1016/j.ydbio.2011.01.004 .
5. Cadieu E, Neff MW, Quignon P, Walsh K, Chase K, Parker HG, Vonholdt BM, Rhue A, Boyko A, Byers A, Wong A, Mosher DS, Elkahloun AG, Spady TC, André C, Lark KG, Cargill M, Bustamante CD, Wayne RK, Ostrander EA . 6 . Coat variation in the domestic dog is governed by variants in three genes . Science . 326 . 5949 . 150–3 . October 2009 . 19713490 . 2897713 . 10.1126/science.1177808 . 2009Sci...326..150C .
6. Szenker-Ravi E, Altunoglu U, Leushacke M, Bosso-Lefèvre C, Khatoo M, Thi Tran H, Naert T, Noelanders R, Hajamohideen A, Beneteau C, de Sousa SB, Karaman B, Latypova X, Başaran S, Yücel EB, Tan TT, Vlaminck L, Nayak SS, Shukla A, Girisha KM, Le Caignec C, Soshnikova N, Uyguner ZO, Vleminckx K, Barker N, Kayserili H, Reversade B . 6 . RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6 . Nature . 557 . 7706 . 564–569 . May 2018 . 29769720 . 10.1038/s41586-018-0118-y . 2018Natur.557..564S . 21712936 .