Assignment of transforming growth factor beta1 and beta3 and a third new ligand to the type I receptor ALK-1

J Biol Chem. 1999 Apr 9;274(15):9984-92. doi: 10.1074/jbc.274.15.9984.

Abstract

Germ line mutations in one of two distinct genes, endoglin or ALK-1, cause hereditary hemorrhagic telangiectasia (HHT), an autosomal dominant disorder of localized angiodysplasia. Both genes encode endothelial cell receptors for the transforming growth factor beta (TGF-beta) ligand superfamily. Endoglin has homology to the type III receptor, betaglycan, although its exact role in TGF-beta signaling is unclear. Activin receptor-like kinase 1 (ALK-1) has homology to the type I receptor family, but its ligand and corresponding type II receptor are unknown. In order to identify the ligand and type II receptor for ALK-1 and to investigate the role of endoglin in ALK-1 signaling, we devised a chimeric receptor signaling assay by exchanging the kinase domain of ALK-1 with either the TGF-beta type I receptor or the activin type IB receptor, both of which can activate an inducible PAI-1 promoter. We show that TGF-beta1 and TGF-beta3, as well as a third unknown ligand present in serum, can activate chimeric ALK-1. HHT-associated missense mutations in the ALK-1 extracellular domain abrogate signaling. The ALK-1/ligand interaction is mediated by the type II TGF-beta receptor for TGF-beta and most likely through the activin type II or type IIB receptors for the serum ligand. Endoglin is a bifunctional receptor partner since it can bind to ALK-1 as well as to type I TGF-beta receptor. These data suggest that HHT pathogenesis involves disruption of a complex network of positive and negative angiogenic factors, involving TGF-beta, a new unknown ligand, and their corresponding receptors.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Activin Receptors
  • Activins
  • Animals
  • Antigens, CD
  • Bone Morphogenetic Proteins / metabolism
  • COS Cells
  • Cell Line
  • Endoglin
  • Inhibins / metabolism
  • Ligands
  • Protein Serine-Threonine Kinases / metabolism*
  • Proteoglycans / chemistry
  • Proteoglycans / metabolism
  • Rabbits
  • Receptors, Cell Surface
  • Receptors, Transforming Growth Factor beta / chemistry
  • Receptors, Transforming Growth Factor beta / metabolism
  • Recombinant Fusion Proteins / metabolism
  • Sequence Homology, Amino Acid
  • Signal Transduction
  • Telangiectasia, Hereditary Hemorrhagic / metabolism*
  • Transforming Growth Factor beta / metabolism*
  • Vascular Cell Adhesion Molecule-1 / chemistry
  • Vascular Cell Adhesion Molecule-1 / metabolism*

Substances

  • Antigens, CD
  • Bone Morphogenetic Proteins
  • ENG protein, human
  • Endoglin
  • Ligands
  • Proteoglycans
  • Receptors, Cell Surface
  • Receptors, Transforming Growth Factor beta
  • Recombinant Fusion Proteins
  • Transforming Growth Factor beta
  • Vascular Cell Adhesion Molecule-1
  • Activins
  • betaglycan
  • Inhibins
  • Protein Serine-Threonine Kinases
  • Activin Receptors