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Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils.
| Content Provider | Semantic Scholar |
|---|---|
| Author | Ryynänen, Markku Ryynänen, J. Sollberg, Stephan Iozzo, R. V. Knowlton, Robert G. Uitto, Jouni |
| Copyright Year | 1992 |
| Abstract | Epidermolysis bullosa (EB) in a group of genodermatoses characterized by the fragility of skin. Previous studies on the dystrophic (scarring) forms of EB have suggested abnormalities in anchoring fibrils, morphologically recognizable attachment structures that provide stability to the association of the cutaneous basement membrane to the underlying dermis. Since type VII collagen is the major component of the anchoring fibrils, we examined the genetic linkage of dominant dystrophic EB (EBDD) and the type VII collagen gene (COL7A1) locus, which we have recently mapped to chromosome 3p, in three large kindreds with abnormal anchoring fibrils. Strong genetic linkage of EBDD and COL7A1 loci was demonstrated with the maximum logarithm of odds (LOD) score of 8.77 at theta = 0. This linkage was further confirmed with two additional markers in this region of the short arm of chromosome 3, and these analyses allowed further refinement of the map locus of COL7A1. Since there were no recombinants between the COL7A1 and EBDD loci, our findings suggest that type VII collagen is the candidate gene that may harbor the mutations responsible for the EB phenotype in these three families. |
| Starting Page | 926 |
| Ending Page | 934 |
| Page Count | 9 |
| File Format | PDF HTM / HTML |
| Alternate Webpage(s) | http://dm5migu4zj3pb.cloudfront.net/manuscripts/115000/115680/JCI92115680.pdf |
| PubMed reference number | 1347297v1 |
| Volume Number | 89 |
| Issue Number | 3 |
| Journal | The Journal of clinical investigation |
| Language | English |
| Access Restriction | Open |
| Subject Keyword | Basement membrane COL7A1 gene Chromosome 3 Short Arm Chromosomes, Human, Pair 3 Cicatrization Collagen Type VII Congenital Abnormality Dermis Epidermolysis Bullosa Dystrophica Fibril - cell component Mutation Recombinants TFEB gene genetic linkage negative regulation of type IV pilus biogenesis |
| Content Type | Text |
| Resource Type | Article |
