A type III collagen Gly559 to Arg helix mutation in Ehler's-Danlos syndrome type IV
Corresponding Author
John F. Bateman
Orthopaedic Molecular Biology Research Unit, Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia
Orthopaedic Molecular Biology Research Unit, Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria 3052, AustraliaSearch for more papers by this authorAngelo A. Chiodo
Orthopaedic Molecular Biology Research Unit, Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia
Search for more papers by this authorYi Ma Weng
Orthopaedic Molecular Biology Research Unit, Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia
Search for more papers by this authorDanny Chan
Orthopaedic Molecular Biology Research Unit, Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia
Search for more papers by this authorEric Haan
Department of Medical Genetics, Women's and Children's Hospital, North Adelaide, Australia
Search for more papers by this authorCorresponding Author
John F. Bateman
Orthopaedic Molecular Biology Research Unit, Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia
Orthopaedic Molecular Biology Research Unit, Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria 3052, AustraliaSearch for more papers by this authorAngelo A. Chiodo
Orthopaedic Molecular Biology Research Unit, Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia
Search for more papers by this authorYi Ma Weng
Orthopaedic Molecular Biology Research Unit, Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia
Search for more papers by this authorDanny Chan
Orthopaedic Molecular Biology Research Unit, Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia
Search for more papers by this authorEric Haan
Department of Medical Genetics, Women's and Children's Hospital, North Adelaide, Australia
Search for more papers by this author
References
- Ala-Kokko L, Kontusaari S, Baldwin CT, Kuivaniemi H, Prockop DJ (1989) Structure of cDNA clones coding for the entire prepro α1 (III) chain of human type III procollagen. Differences in protein structure from type I procollagen and conservation of codon preferences. Biochem J 260: 509–516.
- Bateman JF, Mascara T, Chan D, Cole WG (1984) Abnormal type I collagen metabolism by cultured fibroblasts in lethal perinatal osteogenesis imperfecta. Biochem J 217: 103–115.
- Bateman JF, Harley V, Chan D, Cole WG (1988) Comprehensive analysis of collagen metabolism in vitro using [4(3H)]/[14C] proline dual-labeling and polyacrylamide gel electrophoresis. Anal Biochem 168: 171–175.
- Bateman JF, Hannagan M, Chan D, Cole WG (1991) Characterization of a type I collagen α2(I) glycine-586 to valine substitution in osteogenesis imperfecta type IV Detection of the mutation and prenatal diagnosis by a chemical cleavage method. Biochem J 276: 765–770.
- Cotton RGH, Rodrigues NR, Campbell RD (1988) Reactivity of cytosine and thymine in single base pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations. Proc Natl Acad Sci USA 85: 4397–4401.
- de Paepe A (1996) The Ehler's-Danlos syndrome: A heritable collagen disorder as a cause of bleeding. Thrombosis and Haemostasis 75: 379–386.
- Kontusaari S, Tromp G, Kuivaniemi H, Romanic AM, Prockop DJ (1990) A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms. J Clin Invest 86: 1465–1473.
- Kuivaniemi H, Tromp G, Prockop DJ (1991) Mutations in collagen genes: Causes of rare and some common diseases in humans. FASEB J 5: 2052–2060.
- Narcisi P, Richards AJ, Ferguson SD, Pope FM (1994) A family with Ehlers-Danlos syndrome type III/articular hypermobility syndrome has a glycine 637 to serine substitution in type III collagen. Hum Mol Genet 3: 1617–1620.
- Steinmann B, Royce PM, Superti-Furga A (1993) The Ehlers-Danlos syndrome. In PM Royce, B Steinmann (eds): Connective Tissue and Its Heritable Disorders. New York: Wiley-Liss, pp 351–407.
- Sykes B, Puddle B, Francis M, Smith R (1976) The estimation of two collagens from human dermis by interrupted gel electrophoresis. Biochem Biophys Res Commun 72: 1472–1480.