title: 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.affiliation: Department of Pathology, University of Wisconsin, Madison 53706.
authors.forename: D S
authors.initials: DS
authors.lastname: Greenspan
authors.forename: M G
authors.initials: MG
authors.lastname: Byers
authors.forename: R L
authors.initials: RL
authors.lastname: Eddy
authors.forename: W
authors.initials: W
authors.lastname: Cheng
authors.forename: S
authors.initials: S
authors.lastname: Jani-Sait
authors.forename: T B
authors.initials: TB
authors.lastname: Shows
mesh_terms: D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9; D003094:Collagen / Q000235:genetics*; D004247:DNA / Q000235:genetics; D015342:DNA Probes; D006801:Humans; D009261:Nail-Patella Syndrome / Q000235:genetics*
chemical_list: D015342:DNA Probes; D003094:Collagen; D004247:DNA