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| MUTANT KERATIN EXPRESSION IN TRANSGENIC MICE CAUSES MARKED ABNORMALITIES RESEMBLING A HUMAN GENETIC SKIN-DISEASE |
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| Author(s): VASSAR R, COULOMBE PA, DEGENSTEIN L, ALBERS K, FUCHS E |
| Source: CELL Volume: 64 Issue: 2 Pages: 365-380 Published: JAN 25 1991 |
| Times Cited: 325 References: 54 |
| Abstract: To explore the relationship between keratin gene mutations and genetic disease, we made transgenic mice expressing a mutant keratin in the basal layer of their stratified squamous epithelia. These mice exhibited abnormalities in epidermal architecture and often died prematurely. Blistering occurred easily, and basal cell cytolysis was evident at the light and electron microscopy levels. Keratin filament formation was markedly altered, with keratin aggregates in basal cells. In contrast, terminally differentiating cells made keratin filaments and formed a stratum corneum. Recovery of outer layer cells was attributed to down-regulation of mutant keratin expression and concomitant induction of differentiation-specific keratins as cells terminally differentiate, and the fact that these cells arose from basal cells developing at a time when keratin expression was relatively low. Collectively, the pathobiology and biochemistry of the transgenic mice and their cultured keratinocytes bore a resemblance to a group of genetic disorders known as epidermolysis bullosa simplex. |
| Document Type: Article |
| Language: English |
| Reprint Address: VASSAR, R (reprint author), UNIV CHICAGO, HOWARD HUGHES MED INST, CHICAGO, IL 60637 USA |
Addresses:
1. UNIV CHICAGO, DEPT MOLEC GENET & CELL BIOL, CHICAGO, IL 60637 USA |
| Publisher: CELL PRESS, 1050 MASSACHUSETTES AVE, CIRCULATION DEPT, CAMBRIDGE, MA 02138 |
| Subject Category: Biochemistry & Molecular Biology; Cell Biology |
| IDS Number: EV336 |
| ISSN: 0092-8674 |
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