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A human COL2A1 gene with an Arg519Cys mutation causes osteochondrodysplasia in transgenic mice.
Seinäjoki Central Hospital, Seinäjoki, Finland.
University Hospital of Kuopio, Kuopio, Finland.
Center fo Gene Therapy, MCP Hahnemann University School of Medicine, Philadelphia, Pensylvania, USA.
Center fo Gene Therapy, MCP Hahnemann University School of Medicine, Philadelphia, Pensylvania, USA.
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2004 (English)In: Arthritis and Rheumatism, ISSN 0004-3591, E-ISSN 1529-0131, Vol. 50, no 10, 3153-3160 p., 15476249Article in journal (Refereed) Published
Abstract [en]

OBJECTIVE: An arginine-to-cysteine substitution at position 519 of the COL2A1 gene causes early generalized osteoarthritis with mild chondrodysplasia in humans. In this study, a human COL2A1 gene with the same mutation was introduced into a murine genome having 1 or no alleles of the murine Col2a1 gene, and the skeletal phenotypes of the transgenic mice were compared with those of control mice.

METHODS: Mice with 1 allele of the normal murine Col2a1 gene and 1 allele of the mutated human COL2A1 gene (n = 10), those with no murine Col2a1 gene and 2 alleles of the mutated human COL2A1 gene (n = 13), those with no murine Col2a1 gene and only 1 allele of the mutated COL2A1 gene (n = 9), and normal control mice (n = 11) were studied for skeletal abnormalities, using radiographic imaging and light microscopic analyses of histologic sections. The collagen network of cartilage was also investigated with transmission electron microscopy.

RESULTS: At 2 months of age, all transgenic mice had dysplastic changes in their long bones, flattened vertebral bodies, and osteoarthritic changes in their joints. The intervertebral discs of the transgenic animals were degenerated, and their histologic structure was disturbed. The changes were more severe in mice with no murine Col2a1 allele.

CONCLUSION: The human COL2A1 gene with the Arg519Cys mutation causes osteochondrodysplasia in mice, as it does in humans.

Place, publisher, year, edition, pages
John Wiley & Sons, 2004. Vol. 50, no 10, 3153-3160 p., 15476249
Keyword [en]
Intervertebral disc, human collagen type II, mouse, transgenic, osteochondrodysplasia, gene defect, mutation
National Category
Cell and Molecular Biology Orthopedics Radiology, Nuclear Medicine and Medical Imaging Genetics
Research subject
Genetics; Orthopaedics; Radiology
Identifiers
URN: urn:nbn:se:umu:diva-106731DOI: 10.1002/art.20552PubMedID: 15476249OAI: oai:DiVA.org:umu-106731DiVA: diva2:844390
Available from: 2015-08-05 Created: 2015-08-05 Last updated: 2017-12-04

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