Identification and characterization of the human type II collagen gene (COL2A1).
- 1 May 1985
- journal article
- research article
- Published by Proceedings of the National Academy of Sciences in Proceedings of the National Academy of Sciences
- Vol. 82 (9), 2555-2559
- https://doi.org/10.1073/pnas.82.9.2555
Abstract
The gene contained in the human cosmid clone CosHco11, previously designated an .alpha.1(I) collagen-like gene, was now identified. CosHcol1 hybridizes strongly to a single 5.9-kilobase mRNA species present only in tissue in which type II collagen is expressed. DNA sequence analysis shows that this clone is highly homologous to the chicken .alpha.1(II) collagen gene. CosHcol1 contains the human .alpha.1(II) collagen gene COL2A1. The clone appears to contain the whole gene (30 kilobases in length) and will be extremely useful in the study of cartilage development and for identifying those inherited chondrodystrophies in which defects occur in this gene.Keywords
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