| First Author | Greenspan DS | Year | 1992 |
| Journal | Genomics | Volume | 12 |
| Issue | 4 | Pages | 836-7 |
| PubMed ID | 1572660 | Mgi Jnum | J:12679 |
| Mgi Id | MGI:60915 | Doi | 10.1016/0888-7543(92)90320-r |
| Citation | Greenspan DS, et al. (1992) Human collagen gene COL5A1 maps to the q34.2----q34.3 region of chromosome 9, near the locus for nail-patella syndrome. Genomics 12(4):836-7 |
| abstractText | Type V collagen is a fibrillar collagen that is widely distributed in tissues as a minor component of extracellular matrix and is usually composed of one pro alpha 2 (V) and two pro alpha 1 (V) chains. In this report, recently isolated cDNA and genomic clones, which encode the pro alpha 1 (V) chain, are used as probes for hybridization to filter-bound DNA from a panel of human-mouse hybrid cell lines and for in situ hybridization to metaphase chromosomes. These studies establish the chromosomal location of the COL5A1 gene, which encodes the pro alpha 1 (V) chain, within segment 9q34.2----q34.3. These findings add to the previously characterized dispersion of collagen genes in the human genome, as this is the first example of a collagen locus on chromosome 9. In addition, these studies place COL5A1 near the locus for the genetic disorder, nail-patella syndrome (hereditary osteo-onychodysplasia), which also maps to 9q34. |
