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Science 22 November 1991:
Vol. 254. no. 5035, pp. 1202 - 1205
DOI: 10.1126/science.1720261
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Articles

Science, Vol 254, Issue 5035, 1202-1205
Copyright © 1991 by American Association for the Advancement of Science

articles

Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities

JM Bonifas, AL Rothman, and EH Epstein Jr

Department of Dermatology, San Francisco General Hospital, University of California 94110.

Epidermolysis bullosa simplex (EBS) is characterized by skin blistering due to basal keratinocyte fragility. In one family studied, inheritance of EBS is linked to the gene encoding keratin 14, and a thymine to cytosine mutation in exon 6 of keratin 14 has introduced a proline in the middle of an alpha-helical region. In a second family, inheritance of EBS is linked to loci that map near the keratin 5 gene. These data indicate that abnormalities of either of the components of the keratin intermediate filament heterodipolymer can impair the mechanical stability of these epithelial cells.


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Intermediate filament scaffolds fulfill mechanical, organizational, and signaling functions in the cytoplasm.
S. Kim and P. A. Coulombe (2007)
Genes & Dev. 21, 1581-1597
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A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis.
F. B. Muller, M. Huber, T. Kinaciyan, I. Hausser, C. Schaffrath, T. Krieg, D. Hohl, B. P. Korge, and M. J. Arin (2006)
Hum. Mol. Genet. 15, 1133-1141
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Defining the Properties of the Nonhelical Tail Domain in Type II Keratin 5: Insight from a Bullous Disease-causing Mutation.
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Characterization of Structural Changes in Vimentin Bearing an Epidermolysis Bullosa Simplex-like Mutation Using Site-directed Spin Labeling and Electron Paramagnetic Resonance.
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Intermediate Filament Proteins and Their Associated Diseases.
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N. Engl. J. Med. 351, 2087-2100
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Mechanical stress induces profound remodelling of keratin filaments and cell junctions in epidermolysis bullosa simplex keratinocytes.
D. Russell, P. D. Andrews, J. James, and E. B. Lane (2004)
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An Autocrine/Paracrine Loop Linking Keratin 14 Aggregates to Tumor Necrosis Factor {alpha}-mediated Cytotoxicity in a Keratinocyte Model of Epidermolysis Bullosa Simplex.
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Recessive Epidermolysis Bullosa Simplex Phenotype Reproduced in Vitro: Ablation of Keratin 14 Is Partially Compensated by Keratin 17.
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Amelogenin Interacts with Cytokeratin-5 in Ameloblasts during Enamel Growth.
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Epidermolysis Bullosa Simplex in Israel: Clinical and Genetic Features.
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Keratin mutations of epidermolysis bullosa simplex alter the kinetics of stress response to osmotic shock.
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Real-time Observation of Coiled-coil Domains and Subunit Assembly in Intermediate Filaments.
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A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy.
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Dominant and Recessive Compound Heterozygous Mutations in Epidermolysis Bullosa Simplex Demonstrate the Role of the Stutter Region in Keratin Intermediate Filament Assembly.
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Genes for intermediate filament proteins and the draft sequence of the human genome: novel keratin genes and a surprisingly high number of pseudogenes related to keratin genes 8 and 18.
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Complete Cytolysis and Neonatal Lethality in Keratin 5 Knockout Mice Reveal Its Fundamental Role in Skin Integrity and in Epidermolysis Bullosa Simplex.
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Focal Activation of a Mutant Allele Defines the Role of Stem Cells in Mosaic Skin Disorders.
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J. Cell Biol. 152, 645-650
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Supplementation of a mutant keratin by stable expression of desmin in cultured human EBS keratinocytes.
T. Magin, H. Kaiser, S Leitgeb, C Grund, I. Leigh, S. Morley, and E. Lane (2000)
J. Cell Sci. 113, 4231-4239
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The magical touch: Genome targeting in epidermal stem cells induced by tamoxifen application to mouse skin.
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Mutation of a Major Keratin Phosphorylation Site Predisposes to Hepatotoxic Injury in Transgenic Mice.
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Functional Differences between Keratins of Stratified and Simple Epithelia.
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A dysfunctional desmin mutation in a patient with severe generalized myopathy.
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Mouse Keratin 4 Is Necessary for Internal Epithelial Integrity.
S. L. Ness, W. Edelmann, T. D. Jenkins, W. Liedtke, A. K. Rustgi, and R. Kucherlapati (1998)
J. Biol. Chem. 273, 23904-23911
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Transcriptional Regulation of the Differentiation-linked Human K4 Promoter Is Dependent upon Esophageal-specific Nuclear Factors.
O. G. Opitz, T. D. Jenkins, and A. K. Rustgi (1998)
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A Structural Scaffolding of Intermediate Filaments in Health and Disease.
E. Fuchs and D. W. Cleveland (1998)
Science 279, 514-519
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Desmin Is Essential for the Tensile Strength and Integrity of Myofibrils but Not for Myogenic Commitment, Differentiation, and Fusion of Skeletal Muscle.
Z. Li, M. Mericskay, O. Agbulut, G. Butler-Browne, L. Carlsson, L.-E. Thornell, C. Babinet, and D. Paulin (1997)
J. Cell Biol. 139, 129-144
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To bead or not to bead? Lens-specific intermediate filaments revisited.
S. Georgatos, F Gounari, G Goulielmos, and U Aebi (1997)
J. Cell Sci. 110, 2629-2634
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Temperature sensitivity of the keratin cytoskeleton and delayed spreading of keratinocyte lines derived from EBS patients.
S. Morley, S. Dundas, J. James, T Gupta, R. Brown, C. Sexton, H. Navsaria, I. Leigh, and E. Lane (1995)
J. Cell Sci. 108, 3463-3471
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Colorectal hyperplasia and inflammation in keratin 8-deficient FVB/N mice..
H Baribault, J Penner, R V Iozzo, and M Wilson-Heiner (1994)
Genes & Dev. 8, 2964-2973
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Genetic and Clinical Mosaicism in a Type of Epidermal Nevus.
A. S. Paller, A. J. Syder, Y.-M. Chan, Q.-C. Yu, E. Hutton, G. Tadini, and E. Fuchs (1994)
N. Engl. J. Med. 331, 1408-1415
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A human keratin 14 "knockout": the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein..
Y Chan, I Anton-Lamprecht, Q C Yu, A Jackel, B Zabel, J P Ernst, and E Fuchs (1994)
Genes & Dev. 8, 2574-2587
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Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex.
Y. Chan, Q. Yu, J LeBlanc-Straceski, A Christiano, L Pulkkinen, R. Kucherlapati, J Uitto, and E Fuchs (1994)
J. Cell Sci. 107, 765-774
   Abstract »    PDF »
Mid-gestational lethality in mice lacking keratin 8..
H Baribault, J Price, K Miyai, and R G Oshima (1993)
Genes & Dev. 7, 1191-1202
   Abstract »    PDF »
Mutations in the Rod Domains of Keratins 1 and 10 in Epidermolytic Hyperkeratosis.
J. A. Rothnagel, A. M. Dominey, L. D. Dempsey, M. A. Longley, D. A. Greenhalgh, T. A. Gagne, M. Huber, E. Frenk, D. Hohl, and D. R. Roop (1992)
Science 257, 1128-1130
   Abstract »    PDF »
Molecular genetics of epidermolysis bullosa.
E. Epstein Jr (1992)
Science 256, 799-804
   Abstract »    PDF »
A layer by layer look at the skin blister disease.
M Hoffman (1991)
Science 254, 1111-1112
   PDF »


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Science. ISSN 0036-8075 (print), 1095-9203 (online)