Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia.
Publication/Presentation Date
9-1-1990
Abstract
A cosmid clone was isolated that contained an allele for the type II procollagen gene previously shown to be coinherited with primary generalized osteoarthritis in a large family. Affected members of the family had evidence of a mild chondrodysplasia, but they developed progressive osteoarthritic changes in many joints that had no epiphyseal deformities. The clone contained 52 of the 54 exons of the gene. Nucleotide sequencing of greater than 20,000 base pairs from the clone demonstrated that all the coding sequences and all the intron-exon boundaries were normal except for a single base mutation that converted the codon for arginine at position 519 of the alpha 1(II) chain to a codon for cysteine, an amino acid not found in type II collagen from humans or a variety of other species. The mutation was found in all affected members of the family but not in unaffected members or in 57 unrelated individuals.
Volume
87
Issue
17
First Page
6565
Last Page
6568
ISSN
0027-8424
Published In/Presented At
Ala-Kokko, L., Baldwin, C. T., Moskowitz, R. W., & Prockop, D. J. (1990). Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia. Proceedings of the National Academy of Sciences of the United States of America, 87(17), 6565–6568. https://doi.org/10.1073/pnas.87.17.6565
Disciplines
Medicine and Health Sciences
PubMedID
1975693
Department(s)
Department of Pathology and Laboratory Medicine
Document Type
Article