The orphan adhesion-GPCR GPR126 is required for embryonic development in the mouse

• Published in: PloS one 2010-11, Vol.5 (11), p.e14047-e14047
• Main Authors: Waller-Evans, Helen, Prömel, Simone, Langenhan, Tobias, Dixon, John, Zahn, Dirk, Colledge, William H, Doran, Joanne, Carlton, Mark B L, Davies, Ben, Aparicio, Samuel A J R, Grosse, Johannes, Russ, Andreas P
• Format: Article
• Language: English
• Subjects: Adhesion; Animals; Biochemistry; Body height; Cardiomyocytes; Cardiomyopathy; Cardiovascular Abnormalities - embryology; Cardiovascular Abnormalities - genetics; Cardiovascular Abnormalities - metabolism; Cell adhesion & migration; Danio rerio; Defects; Developmental Biology; Developmental Biology/Developmental Molecular Mechanisms; Developmental Biology/Morphogenesis and Cell Biology; Developmental Biology/Organogenesis; Embryo, Mammalian - embryology; Embryo, Mammalian - metabolism; Embryogenesis; Embryonic development; Embryonic Development - genetics; Embryonic growth stage; Epidermal growth factor; Female; G protein-coupled receptors; Gene Expression Regulation, Developmental; Genetic aspects; Genetics and Genomics/Animal Genetics; Genetics and Genomics/Gene Function; Genome-wide association studies; Genomes; Genomics; Genotype; Human populations; Humans; Immunohistochemistry; Ligands; Male; Mammals; Mice; Mice, 129 Strain; Mice, Inbred C57BL; Mice, Knockout; Morphogenesis; Mutation; Myelination; Myocardium - metabolism; Myocardium - pathology; Nerves; Nervous system; Peripheral nerves; Physiology; Placenta - metabolism; Polymicrogyria; Pregnancy; Proteins; Receptor mechanisms; Receptors; Receptors, G-Protein-Coupled - genetics; Receptors, G-Protein-Coupled - metabolism; Reptiles & amphibians; Reverse Transcriptase Polymerase Chain Reaction; Time Factors; Vertebrates; Viability; Zebrafish
• ISSN: 1932-6203; 1932-6203
• DOI: 10.1371/journal.pone.0014047

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.