Article
RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6.
Nature - 1 May 2018
Szenker-Ravi Emmanuelle, Altunoglu Umut, Leushacke Marc, Bosso-Lefèvre Célia, Khatoo Muznah, Thi Tran Hong, Naert Thomas, Noelanders Rivka, Hajamohideen Amin, Beneteau Claire, de Sousa Sergio B, Karaman Birsen, Latypova Xenia, Başaran Seher, Yücel Esra Börklü, Tan Thong Teck, Vlaminck Lena, Nayak Shalini S, Shukla Anju, Girisha Katta Mohan, Le Caignec Cédric, Soshnikova Natalia, Uyguner Zehra Oya, Vleminckx Kris, Barker Nick, Kayserili Hülya, Reversade Bruno
Abstract excerpt
The four R-spondin secreted ligands (RSPO1-RSPO4) act via their cognate LGR4, LGR5 and LGR6 receptors to amplify WNT signalling1-3. Here we report an allelic series of recessive RSPO2 mutations in humans that cause tetra-amelia syndrome, which is characterized by lung aplasia and a total absence of the four limbs. Functional studies revealed impaired binding to the LGR4/5/6 receptors and the RNF43 and ZNRF3...
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