S-Space College of Medicine/School of Medicine (의과대학/대학원) Orthopedic Surgery (정형외과학전공) Journal Papers (저널논문_정형외과학전공)
A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva
- Shore, Eileen M; Xu, Meiqi; Feldman, George J; Fenstermacher, David A; Cho, Tae-Joon; Choi, In Ho; Connor, J Michael; Delai, Patricia; Glaser, David L; LeMerrer, Martine; Morhart, Rolf; Rogers, John G; Smith, Roger; Triffitt, James T; Urtizberea, J Andoni; Zasloff, Michael; Brown, Matthew A; Kaplan, Frederick S
- Issue Date
- Nature Publishing Group
- Nat. Genet. 38, 525-527
- Activin Receptors, Type I/chemistry/*genetics; Amino Acid Sequence; Chromosomes, Human, Pair 2; Molecular Sequence Data; *Mutation; Myositis Ossificans/*genetics; Pedigree; RNA, Messenger/genetics; Sequence Homology, Amino Acid
- Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder of skeletal malformations and progressive extraskeletal ossification. We mapped FOP to chromosome 2q23-24 by linkage analysis and identified an identical heterozygous mutation (617G --> A; R206H) in the glycine-serine (GS) activation domain of ACVR1, a BMP type I receptor, in all affected individuals examined. Protein modeling predicts destabilization of the GS domain, consistent with constitutive activation of ACVR1 as the underlying cause of the ectopic chondrogenesis, osteogenesis and joint fusions seen in FOP.
- 1061-4036 (Print)
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