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Endoglin, an ancillary TGFβ receptor, is required for extraembryonic angiogenesis and plays a key role in heart development

Lookup NU author(s): Professor Helen ArthurORCiD, Glenn Renforth, Dr David Wilson, Evelyn Torsney, Dr Trevor Jowett


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Endoglin (CD105) is expressed on the surface of endothelial and haematopoietic cells in mammals and binds TGFβ isoforms 1 and 3 in combination with the signaling complex of TGFβ receptors types I and II. Endoglin expression increases during angiogenesis, wound healing, and inflammation, all of which are associated with TGFβ signaling and alterations in vascular structure. The importance of endoglin for normal vascular architecture is further indicated by the association of mutations in the endoglin gene with the inherited disorder Hereditary Haemorrhagic Telangiectasia Type 1 (HHT1), a disease characterised by bleeding from vascular malformations. In order to study the role of endoglin in vivo in more detail and to work toward developing an animal model of HHT1, we have derived mice that carry a targeted nonsense mutation in the endoglin gene. Studies on these mice have revealed that endoglin is essential for early development. Embryos homozygous for the endoglin mutation fail to progress beyond 10.5 days postcoitum and fail to form mature blood vessels in the yolk sac. This phenotype is remarkably similar to that of the TGFβ1 and the TGFβ receptor II knockout mice, indicating that endoglin is needed in vivo for TGFβ1 signaling during extraembryonic vascular development. In addition, we have observed cardiac defects in homozygous endoglin-deficient embryos, suggesting endoglin also plays a role in cardiogenesis. We anticipate that heterozygous mice will ultimately serve as a useful disease model for HHT1, as some individuals have dilated and fragile blood vessels similar to vascular malformations seen in HHT patients.

Publication metadata

Author(s): Torsney E; Renforth G; Jowett T; Arthur HM; Wilson DI; Marchuk DA; Burn J; Diamond AG; Ure J; Smith AJH; Charlton R; Parums DV

Publication type: Article

Publication status: Published

Journal: Developmental Biology

Year: 2000

Volume: 217

Issue: 1

Pages: 42-53

ISSN (print): 0012-1606

ISSN (electronic): 1095-564X

Publisher: Academic Press


DOI: 10.1006/dbio.1999.9534

PubMed id: 10625534


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