Abstract
In the past decade, the production of transgenic animals whose genome is modified
to contain DNA transgenes of interest has significantly contributed to expand our
understanding of the molecular etiology and pathobiology of several inherited skin
diseases. This technology has led to the discovery that mutations affecting specific
keratin genes are responsible for a wide spectrum of inherited bullous diseases, which
are collectively characterized by blistering after minor trauma. Type I and type II
keratin proteins are restricted to, and very abundant in, epithelial cells, where
they occur as a pancytoplasmic network of cytoskeletal filaments. Although it had
long been suspected that a primary function of keratin filaments may be to contribute
to the physical strength of epithelial sheets, a formal demonstration came from studies
of transgenic mouse models and patients suffering from keratin-based blistering diseases.
Here we review the basic characteristics of keratin gene and their proteins and relate
them to the molecular pathogenesis of relevant inherited skin blistering diseases.
A particular emphasis is placed on the role of transgenic mouse models in the past,
current, and future studies of these genodermatoses.
Keywords
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Article info
Publication history
Accepted:
January 20,
1999
Received:
January 20,
1999
Identification
Copyright
© 1999 Elsevier Science Ireland Ltd. Published by Elsevier Inc. All rights reserved.
