RT Journal Article
T1 Adhesion G protein-coupled receptor Gpr126/Adgrg6 is essential for placental development
A1 Torregrosa Carrión, Rebeca
A1 Piñeiro-Sabarís, Rebeca
A1 Siguero-Álvarez, Marcos
A1 Grego-Bessa, Joaquin
A1 Luna-Zurita, Luís
A1 Leite Fernandes, Vitor Samuel
A1 MacGrogan, Donal
A1 de la Pompa, José Luís
AB Mutations in the G protein–coupled receptor GPR126/ADGRG6 cause human diseases, including defective peripheral nervous system (PNS) myelination. To study GPR126 function, we generated new genetic mice and zebrafish models. Murine Gpr126 is expressed in developing heart endocardium, and global Gpr126 inactivation is embryonically lethal, with mutants having thin-walled ventricles but unaffected heart patterning or maturation. Endocardial-specific Gpr126 deletion does not affect heart development or function, and transgenic endocardial GPR126 expression fails to rescue lethality in Gpr126-null mice. Zebrafish gpr126 mutants display unaffected heart development. Gpr126 is also expressed in placental trophoblast giant cells. Gpr126-null mice with a heterozygous placenta survive but exhibit GPR126-defective PNS phenotype. In contrast, Gpr126-null embryos with homozygous mutant placenta die but are rescued by placental GPR126 expression. Gpr126-deficient placentas display down-regulation of preeclampsia markers Mmp9, Cts7, and Cts8. We propose that the placenta-heart axis accounts for heart abnormalities secondary to placental defects in Gpr126 mutants.
YR 2021
FD 2021
LK https://hdl.handle.net/20.500.14352/115075
UL https://hdl.handle.net/20.500.14352/115075
LA eng
NO Ministerio de Ciencia e Innovación (España) 
NO Fundación BBVA
NO Fundación La Caixa
NO European Commission
DS Docta Complutense
RD 27 feb 2026