PUBLICATION

Blood flow regulates acvrl1 transcription via ligand-dependent Alk1 activity

Authors
Anzell, A.R., Kunz, A.B., Donovan, J.P., Tran, T.G., Lu, X., Young, S., Roman, B.L.
ID
ZDB-PUB-240511-6
Date
2024
Source
Angiogenesis   27(3): 501-522 (Journal)
Registered Authors
Roman, Beth, Young, Sarah
Keywords
Bone morphogenetic protein signaling, Endothelial cell gene expression, Hereditary hemorrhagic telangiectasia, Zebrafish
MeSH Terms
  • Activin Receptors, Type II*/genetics
  • Activin Receptors, Type II*/metabolism
  • Animals
  • Endothelial Cells/metabolism
  • Growth Differentiation Factor 2/genetics
  • Growth Differentiation Factor 2/metabolism
  • Humans
  • Ligands
  • Mice
  • Telangiectasia, Hereditary Hemorrhagic/genetics
  • Telangiectasia, Hereditary Hemorrhagic/metabolism
  • Telangiectasia, Hereditary Hemorrhagic/pathology
  • Transcription, Genetic
  • Zebrafish*/embryology
  • Zebrafish*/metabolism
  • Zebrafish Proteins/genetics
  • Zebrafish Proteins/metabolism
PubMed
38727966 Full text @ Angiogenesis
Abstract
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease characterized by the development of arteriovenous malformations (AVMs) that can result in significant morbidity and mortality. HHT is caused primarily by mutations in bone morphogenetic protein receptors ACVRL1/ALK1, a signaling receptor, or endoglin (ENG), an accessory receptor. Because overexpression of Acvrl1 prevents AVM development in both Acvrl1 and Eng null mice, enhancing ACVRL1 expression may be a promising approach to development of targeted therapies for HHT. Therefore, we sought to understand the molecular mechanism of ACVRL1 regulation. We previously demonstrated in zebrafish embryos that acvrl1 is predominantly expressed in arterial endothelial cells and that expression requires blood flow. Here, we document that flow dependence exhibits regional heterogeneity and that acvrl1 expression is rapidly restored after reinitiation of flow. Furthermore, we find that acvrl1 expression is significantly decreased in mutants that lack the circulating Alk1 ligand, Bmp10, and that, in the absence of flow, intravascular injection of BMP10 or the related ligand, BMP9, restores acvrl1 expression in an Alk1-dependent manner. Using a transgenic acvrl1:egfp reporter line, we find that flow and Bmp10 regulate acvrl1 at the level of transcription. Finally, we observe similar ALK1 ligand-dependent increases in ACVRL1 in human endothelial cells subjected to shear stress. These data suggest that ligand-dependent Alk1 activity acts downstream of blood flow to maintain or enhance acvrl1 expression via a positive feedback mechanism, and that ALK1 activating therapeutics may have dual functionality by increasing both ALK1 signaling flux and ACVRL1 expression.
Genes / Markers
Figures
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Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Antibodies
Orthology
Engineered Foreign Genes
Mapping