Human collagen gene COL5A1 maps to the q34.2----q34.3 region of chromosome 9, near the locus for nail-patella syndrome.

Abstract

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.

• Authors: D S Greenspan, M G Byers, R L Eddy, W Cheng, S Jani-Sait, T B Shows
• Journal: Genomics (Genomics) Vol. 12 Issue 4 Pg. 836-7 (Apr 1992) ISSN: 0888-7543 [Print] United States
• PMID: 1572660 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• DNA Probes
• Collagen
• DNA

Topics

• Chromosome Mapping
• Chromosomes, Human, Pair 9
• Collagen (genetics)
• DNA (genetics)
• DNA Probes
• Humans
• Nail-Patella Syndrome (genetics)