2026-06-30T01:54:33Zhttps://repisalud.isciii.es/rest/oai/requestoai:repisalud.isciii.es:20.500.12105/153482024-09-27T09:39:54Zcom_20.500.12105_19604com_20.500.12105_2051col_20.500.12105_19605
Repisalud
author
Torregrosa-Carrión, Rebeca
author
Piñeiro-Sabarís, Rebeca
author
Siguero-Álvarez, Marcos
author
Grego-Bessa, Joaquím
author
Luna-Zurita, Luis
author
Fernandes, Vitor Samuel
author
MacGrogan, Donal
author
Stainier, Didier Y R
author
de la Pompa, Jose Luis
funder
Centro de Investigación Biomédica en Red - CIBERCV (Enfermedades Cardiovasculares)
funder
Ministerio de Ciencia e Innovación (España)
funder
Agencia Estatal de Investigación (España)
funder
Fundación BBVA
funder
Unión Europea. Comisión Europea. European Research Council (ERC)
funder
Boehringer Ingelheim Fonds
funder
Comunidad de Madrid (España)
funder
Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF)
funder
Fundación ProCNIC
funder
Instituto de Salud Carlos III
2022-12-22T10:43:35Z
2022-12-22T10:43:35Z
2021-11-12
Sci Adv. 2021 Nov 12;7(46):eabj5445. Epub 2021 Nov 12.
10.1126/sciadv.abj5445
2375-2548
Science advances
34767447
http://hdl.handle.net/20.500.12105/15348
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.
eng
Adhesion G protein-coupled receptor Gpr126/Adgrg6 is essential for placental development.
journal article
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Adhesion G protein_coupled receptor_Sci Adv 2021.pdf
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Adhesion G protein_coupled receptor_Sci Adv 2021.pdf.txt