Article
Variant BMP receptor mutations causing fibrodysplasia ossificans progressiva (FOP) in humans show BMP ligand-independent receptor activation in zebrafish.
Bone - 1 Apr 2018
Mucha Bettina E, Hashiguchi Megumi, Zinski Joseph, Shore Eileen M, Mullins Mary C
Abstract excerpt
The large majority of cases of the autosomal dominant human disease fibrodysplasia ossificans progressiva (FOP) are caused by gain-of-function Arg206His mutations in the BMP type I receptor ACVR1 (ALK2). The Arg206His mutation is located in the GS domain of the type I receptor. This region is normally phosphorylated by the BMP type II receptor, which activates the type I receptor to phosphorylate its substrate,...
Topics
- Activin Receptors, Type I
- Animals
- Bone Morphogenetic Protein Receptors
- Humans
- Mutation
- Myositis Ossificans
- Protein Binding
- Signal Transduction
- Zebrafish