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Nature
Article . 2018
License: taverne
Data sources: Pure Amsterdam UMC
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Nature
Article . 2018 . Peer-reviewed
License: Springer TDM
Data sources: Crossref
Nature
Article . 2018
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RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6

Authors: Szenker-Ravi, Emmanuelle; Altunoglu, Umut; Leushacke, Marc; Bosso-Lefèvre, C. lia; Khatoo, Muznah; Thi Tran, Hong; Naert, Thomas; +20 Authors

RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6

Abstract

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 transmembrane ligases, and reduced WNT potentiation, which correlated with allele severity. Unexpectedly, however, the triple and ubiquitous knockout of Lgr4, Lgr5 and Lgr6 in mice did not recapitulate the known Rspo2 or Rspo3 loss-of-function phenotypes. Moreover, endogenous depletion or addition of exogenous RSPO2 or RSPO3 in triple-knockout Lgr4/5/6 cells could still affect WNT responsiveness. Instead, we found that the concurrent deletion of rnf43 and znrf3 in Xenopus embryos was sufficient to trigger the outgrowth of supernumerary limbs. Our results establish that RSPO2, without the LGR4/5/6 receptors, serves as a direct antagonistic ligand to RNF43 and ZNRF3, which together constitute a master switch that governs limb specification. These findings have direct implications for regenerative medicine and WNT-associated cancers.

Country
Netherlands
Keywords

Male, Oncogene Proteins, Ubiquitin-Protein Ligases, Xenopus, Limb Deformities, Congenital, Extremities, Fibroblasts, Receptors, G-Protein-Coupled, DNA-Binding Proteins, Gene Knockout Techniques, Mice, HEK293 Cells, Phenotype, Animals, Humans, Intercellular Signaling Peptides and Proteins, Female

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Powered by OpenAIRE graph
citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
159
Top 1%
Top 10%
Top 1%
hybrid