Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis
JA Rothnagel, AM Dominey, LD Dempsey, MA Longley… - Science, 1992 - science.org
JA Rothnagel, AM Dominey, LD Dempsey, MA Longley, DA Greenhalgh, TA Gagne…
Science, 1992•science.orgEpidermolytic hyperkeratosis is a hereditary skin disorder characterized by blistering and a
marked thickening of the stratum corneum. In one family, affected individuals exhibited a
mutation in the highly conserved carboxyl terminal of the rod domain of keratin 1. In two
other families, affected individuals had mutations in the highly conserved amino terminal of
the rod domain of keratin 10. Structural analysis of these mutations predicts that heterodimer
formation would be unaffected, although filament assembly and elongation would be …
marked thickening of the stratum corneum. In one family, affected individuals exhibited a
mutation in the highly conserved carboxyl terminal of the rod domain of keratin 1. In two
other families, affected individuals had mutations in the highly conserved amino terminal of
the rod domain of keratin 10. Structural analysis of these mutations predicts that heterodimer
formation would be unaffected, although filament assembly and elongation would be …
Epidermolytic hyperkeratosis is a hereditary skin disorder characterized by blistering and a marked thickening of the stratum corneum. In one family, affected individuals exhibited a mutation in the highly conserved carboxyl terminal of the rod domain of keratin 1. In two other families, affected individuals had mutations in the highly conserved amino terminal of the rod domain of keratin 10. Structural analysis of these mutations predicts that heterodimer formation would be unaffected, although filament assembly and elongation would be severely compromised. These data imply that an intact keratin intermediate filament network is required for the maintenance of both cellular and tissue integrity.
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