PMID: 3759085Sep 1, 1986Paper

Osteogenesis imperfecta type IV: evidence of abnormal triple helical structure of type I collagen

Human Genetics
R J WenstrupP H Byers

Abstract

Skin fibroblasts from a patient with mild osteogenesis imperfecta (OI) type IV synthesize two populations of type I procollagen molecules. One population contains pro alpha 1(I) and pro alpha 2(I) chains that migrate normally in sodium dodecyl sulfate polyacrylamide gel electrophoresis (SDS-PAGE) and a second population contains only slower migrating pro alpha 1(I) and pro alpha 2(I) chains. The total amount of type I procollagen made by OI cells and the ratio of pro alpha 1(I):pro alpha 2(I) is normal. When labeled under conditions that inhibit post-translational modification of pro alpha chains, the OI cells produce only single populations of pro alpha 1(I) and pro alpha 2(I) chains indicating that the apparent increased molecular weight of some OI pro alpha chains is due to excessive post-translational modification rather than peptidyl insertions. Peptide maps indicate that excessive post-translational modification occurs along the entire triple helical segment of some alpha 1(I) and alpha 2(I) chains produced by OI cells. The effect of the mutation is to lower the melting temperature of the molecules containing slow migrating alpha 1(I) and alpha 2(I) chains to 39.5 degrees C (compared to 41.5 degrees C for control), and to...Continue Reading

Citations

Jun 1, 1992·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·L D QuarlesR J Wenstrup
Feb 1, 1988·Baillière's Clinical Endocrinology and Metabolism·W G Cole
Jun 1, 1990·American Journal of Respiratory Cell and Molecular Biology·J A LastK M Reiser
Sep 29, 2000·Journal of Pediatric Orthopedics·A C BaitnerP E Di Cesare
Jan 15, 1993·American Journal of Medical Genetics·M C WillingP H Byers
Jan 1, 1988·Annals of the New York Academy of Sciences·P H ByersM C Willing
Feb 15, 1987·Hospital Practice·R E Pyeritz

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