Bohnekamp J, Cryderman DE, Paululat A, Baccam GC, Wallrath LL, Magin TM. A Drosophila Model of Epidermolysis Bullosa Simplex. J Invest Dermatol. 2015 Aug;135(8):2031-9. PMID: 25830653; PMCID: PMC4519992.
From the abstract: "The blistering skin disorder epidermolysis bullosa simplex (EBS) results
from dominant mutations in keratin 5 (K5) or keratin 14 (K14) genes,
encoding the intermediate filament (IF) network of basal epidermal
keratinocytes. ... Drosophila
lacks cytoplasmic IFs, providing a 'null' environment to examine the
formation of keratin networks and determine mechanisms by which mutant
keratins cause pathology. Here, we report that ubiquitous co-expression
of transgenes encoding wild-type human K14 and K5 resulted in the
formation of extensive keratin networks in Drosophila epithelial and
non-epithelial tissues, causing no overt phenotype. Similar to mammalian cells, treatment of transgenic fly tissues with
phosphatase inhibitors caused keratin network collapse, validating
Drosophila as a genetic model system to investigate keratin dynamics.
Co-expression of K5 and a K14(R125C) mutant that causes the most severe
form of EBS resulted in widespread formation of EBS-like cytoplasmic
keratin aggregates ... This Drosophila
model of EBS is valuable for the identification of pathways altered by
mutant keratins and for the development of EBS therapies."