Human skin collagenase: assignment of the structural gene to chromosome 11 in both normal and recessive dystrophic epidermolysis bullosa cells using human-mouse somatic cell hybrids.

Somatic cell hybrids between mouse cells and human normal skin and corneal fibroblasts and recessive dystrophic epidermolysis bullosa (RDEB) skin fibroblasts have been used to assign the structural gene for collagenase to its human chromosome. A total of 46 hybrid subclones from several hybridization events were isolated in hypoxanthine-aminopterin thymidine (HAT) selection medium and used to measure the production of human collagenase by a specific radioimmunoassay. We have found that both the normal and RDEB human collagenase gene maps to human chromosome 11. This indicates that the abnormal collagenase produced by RDEB cells is probably not a totally distinct form of the enzyme, but is a structural mutation of the normal collagenase enzyme.