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Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia.
Open accessAbstract
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.
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Saiki, R. K., Scharf, S., Faloona, F., Mullis, K. B., Horn, G. T., Erlich, H. A., & Arnheim, N. (1985) · Science · doi:10.1126/science.2999980 · Cited by 8,956
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Karsdal, M. A., Nielsen, S. H., Leeming, D. J., Langholm, L. L., Nielsen, M. J., Manon-Jensen, T., Siebuhr, A., Gudmann, N. S., Rønnow, S., Sand, J. M., et al. (2017) · Advanced Drug Delivery Reviews · doi:10.1016/j.addr.2017.07.014 · Cited by 509
Metadata
- Authors
- Ala-Kokko, L., Baldwin, C. T., Moskowitz, R. W., & Prockop, D. J.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 1990-09
- Volume
- 87
- Issue
- 17
- Pages
- 6565-6568
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W2091447263
- Cited by
- 279
- References
- 1
- FWCI
- 18.58
- Type
- journal article
- Language
- en
- Open access
- green
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- CoChat. (2026). Citation check: Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia. https://app.cochat.ai/papers/10.1073/pnas.87.17.6565
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- 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. https://doi.org/10.1073/pnas.87.17.6565
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
