Abstract
Adhesion-GPCRs provide essential cell-cell and cell-matrix interactions in development, and have been implicated in inherited human diseases like Usher Syndrome and bilateral frontoparietal polymicrogyria. They are the second largest subfamily of seven-transmembrane spanning proteins in vertebrates, but the function of most of these receptors is still not understood. The orphan Adhesion-GPCR GPR126 has recently been shown to play an essential role in the myelination of peripheral nerves in zebrafish. In parallel, whole-genome association studies have implicated variation at the GPR126 locus as a determinant of body height in the human population. The physiological function of GPR126 in mammals is still unknown. We describe a targeted mutation of GPR126 in the mouse, and show that GPR126 is required for embryonic viability and cardiovascular development.
Highlights
Adhesion-GPCRs are the second largest subfamily of putatively G-protein coupled receptors (GPCR) with more than 30 members in mammals [1]
We describe the first genetic analysis of GPR126 function in a mammalian model
Residual wild-type transcripts could not be detected in mutant embryos, and a truncation of the related receptor lat-1 has been shown to lack residual function in C. elegans [9,23]
Summary
Adhesion-GPCRs are the second largest subfamily of putatively G-protein coupled receptors (GPCR) with more than 30 members in mammals [1]. Their typical domain architecture consists of a Cterminal seven-transmembrane spanning (7TM) domain homologous to secretin-like GPCRs, and a long N-terminal domain containing a range of protein domains found in cell adhesion proteins [2]. The cadherin-like Adhesion-GPCR flamingo (alternative names: stan (starry night); CELSR (cadherin, EGF-like, LAG-like, and seven-pass receptor)) has been implicated in planar cell polarity in Drosophila [6,7] and axonal tract development in mice [8]. We have recently shown that a highly conserved Adhesion-GPCR, the Latrophilin homolog lat-1, is essential for tissue polarity in the C. elegans embryo [9]
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