The orphan adhesion-GPCR GPR126 is required for embryonic development in the mouse.
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.
Department of Biochemistry and Magdalen College, University of Oxford, Oxford, United Kingdom.
Helen
H
Waller-Evans
Simone
S
Prömel
Tobias
T
Langenhan
John
J
Dixon
Dirk
D
Zahn
William H
WH
Colledge
Joanne
J
Doran
Mark B L
MB
Carlton
Ben
B
Davies
Samuel A J R
SA
Aparicio
Johannes
J
Grosse
Andreas P
AP
Russ
D000818:Animals; D018376:Cardiovascular Abnormalities / Q000196:embryology / Q000235:genetics / Q000378:metabolism; D004622:Embryo, Mammalian / Q000196:embryology / Q000378:metabolism*; D047108:Embryonic Development / Q000235:genetics*; D005260:Female; D018507:Gene Expression Regulation, Developmental; D005838:Genotype; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D051379:Mice; D057507:Mice, 129 Strain; D008810:Mice, Inbred C57BL; D018345:Mice, Knockout; D009206:Myocardium / Q000378:metabolism / Q000473:pathology; D010920:Placenta / Q000378:metabolism; D011247:Pregnancy; D043562:Receptors, G-Protein-Coupled / Q000235:genetics* / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013997:Time Factors
C550767:Gpr126 protein, mouse; D043562:Receptors, G-Protein-Coupled