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Category CDBセミナー
Date and Time 2017-04-20 13:30 - 15:00
Venue Auditorium C1F
Speaker Bruno Reversade
Affiliation IMB & IMCB, A*STAR, Singapore
Title R(e)spondin-2 WNT signaling for Limb & Lung Development
Poster click here to download(PDF)
Host Hiroshi Hamada
Abstract It is believed that the four R-SPONDIN secreted ligands primarily act via their cognate LGR4/5/6 receptors to enhance WNT signaling. Here I will document an allelic series of recessive R-SPONDIN2 (RSPO2) mutations causing a spectrum of congenital abnormalities in humans. Six fetuses with RSPO2-null alleles presented with Tetra-Amelia Syndrome characterized by lung aplasia, cleft lip/palate and a total absence of the four limbs.

Functional work revealed impaired LGR5-binding and reduced WNT potentiation which correlated with allele severity. Surprisingly however a triple ubiquitous knockout of Lgr4, Lgr5 and Lgr6 in mice suggested a very different interpretation.
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