Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

Nature Genetics

Volumn 13, Issue 4, 1996, Pages 450-457

  Smith, F J D ^a   Eady, R A J ^b   Leigh, I M ^c   McMillan, J R ^b   Rugg, E L ^a   Kelsell, D P ^d   Bryant, S P ^d   Spurr, N K ^d   Geddes, J F ^c   Kirtschig, G ^e   Milana, G ^f   De Bono, A G ^g   Owaribe, K ^h   Wiche, G ⁱ   Pulkkinen, L ^j,k   Uitto, J ^j   McLean, W H I ^a   Lane, E B ^a  

^a UNIVERSITY OF DUNDEE   (United Kingdom)

^b ST THOMAS HOSPITAL   (United Kingdom)

^c ST BARTHOLOMEW S HOSPITAL   (United Kingdom)

^d ICRF Clare Hall Laboratories ^*  (United Kingdom)

^e PHILIPPS UNIVERSITY MARBURG   (Germany)

^f UNIVERSITY OF CATANIA   (Italy)

^g ST LUKE S HOSPITAL   (Malta)

^h NAGOYA UNIVERSITY   (Japan)

ⁱ Inst Biochem and Molec Cell Biol   (Austria)

^j THOMAS JEFFERSON UNIVERSITY   (United States)

^k KUOPIO UNIVERSITY HOSPITAL   (Finland)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSKELETON PROTEIN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BULLOUS SKIN DISEASE; CHROMOSOMAL LOCALIZATION; CHROMOSOME 8Q; CONTROLLED STUDY; CYTOSKELETON; EPIDERMOLYSIS BULLOSA; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; HUMAN; HUMAN TISSUE; MUSCULAR DYSTROPHY; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN STRUCTURE;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CELL ADHESION MOLECULES; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 8; DESMOSOMES; DNA PRIMERS; EPIDERMOLYSIS BULLOSA; GENES, RECESSIVE; HAPLOTYPES; HUMANS; INTERCELLULAR JUNCTIONS; INTERMEDIATE FILAMENT PROTEINS; MOLECULAR SEQUENCE DATA; MUSCLES; MUSCULAR DYSTROPHIES; PEDIGREE; PLECTIN; POINT MUTATION; RATS; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, AMINO ACID; SKIN;

EID: 9344248374     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0896-450     Document Type: Article

References (50)

1. Fine, J.-D. et al. Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. J. Am. Acad. Derm. 24, 119-135 (1991).
2. Eady, R.A.J. & Dunnill, M.G.S. Epidermolysis bullosa: hereditary skin fragility diseases as paradigms in cell biology. Arch. Derm. Res. 287, 2-9 (1994).
3. Christiano, A.M. & Ditto, J. Molecular complexity of the cutaneous basement membrane zone. Revelations from the paradigms of epidermolysis bullosa. Exp. Derm. 5, 1-11 (1996).
4. Leigh, I.M. & Lane, E.B. Mutations in the genes for epidermal keratins in epidermolysis bullosa and epidermolytic hyperkeratosis. Arch. Derm. 129, 1571-1577 (1993).
5. Lane, E.B. Keratin diseases. Curr. Opin. Genet. Dev. 4, 412-418 (1994).
6. Niemi, K.M., Sommer, H., Kero, M., Kanerva, L. & Haltia, M. Epidermolysis bullosa simplex associated with muscular dystrophy with recessive inheritance. Arch. Derm. 124, 551-554 (1988).
7. Fine, J.-D. et al. Autosomal recessive epidermolysis bullosa simplex. Arch. Derm. 125, 931-938 (1989).
8. Doriguzzi, C. et al. Congenital muscular dystrophy associated with familial junctional epidermolysis bullosa lethalis. Eur. Neurol. 33, 454-460 (1993).
9. Wiche, G., Krepler, R., Artlieb, U., Pytela, R. & Denk, H. Occurrence and immunolocalization of plectin in tissues. J. Cell Biol. 97, 887-901 (1983).
10. Wiche, G., Krepler, R., Artlieb, U., Pytela, R. & Aberer, W. Identification of plectin in different human cell types and immunolocalization at epithelial basal cell surface membranes. Exp. Cell Res. 155, 43-49 (1984).
11. Foisner, R. et al. A panel of monoclonal antibodies to rat plectin: distinction by epitope mapping and immunoreactivity with different tissues and cell lines. Acts Histochem .(Jena) 96, 421-438 (1994).
12. Hieda, Y., Nishizawa, Y., Uematsu, J. & Owaribe, K. Identification of a new hemidesmosomal protein, HD1: a major high molecular mass component of isolated hemidesmosomes. J. Cell Biol. 116, 1497-1506 (1992).
13. McLean, W.H.I. & Lane, E.B. Intermediate filaments in disease. Curr. Opin. Cell Biol. 7, 118-125 (1995).
14. Legan, P.K., Collins, J.E. & Garrod, D.R. The molecular biology of desmosomes and hemidesmosomes: 'what's in a name?'. BioEssays 14, 385-392 (1992).
15. Kurpakus, M.A. & Jones, J.C.R. A novel hemidesmosomal plaque component: tissue distribution and incorporation into assembling hemidesmosomes in an in vivo model. Expl. Cell Res. 194, 139-146 (1991).
16. Tanaka, T. et al. Production of rabbit antibodies against carboxy-terminal epitopes encoded by bullous pemphigoid cDNA. J. Invest. Derm. 94, 617-623 (1990).
17. Wiche, G. et al. Cloning and sequencing of rat plectin indicates a 466-kD polypeptide chain with a three-domain structure based on a central alpha-helical coiled coil. J. Cell Biol. 114, 83-99 (1991).
18. Kelsell, D.P. et al. Development of a panel of monochromosomal somatic cell hybrids for rapid gene mapping. Ann. Hum. Genet. 59, 233-241 (1995).
19. Liu, C.-G., Maercker, C., Castañon, M., Hauptmann, R. & Wiche, G. Human plectin: organization of the gene, sequence analysis, and chromosome localization (8q24). Prac. Natl. Acad. Sci. USA 93, 4278-4283 (1996).
20. Kelsell, D.P., Black, D.M., Bishop, D.T. & Spurr, N.K. Genetic analysis of the BRCA1 region in a large breast/ovarian cancer family: refinement of the minimal region containing BRCA1. Hum. Mol. Genet. 2, 1823-1828 (1993).
21. Cooper, D.N. Human gene mutation affecting RNA processing and translation. Ann. Med. 25, 11-17 (1993).
22. Cui, Y., Hagan, K.W., Zhang, S.A. & Peltz, S.W. Identification and characterization of genes that are required for the accelerated degradation of mRNAs containing a premature translational termination codon. Genes Dev. 9, 423-436 (1995).
23. Wiche, G. Plectin: General overview and appraisal of its potential role as a subunit protein of the cytomatrix. CRC Crit. Rev. Biochem. Mol. Biol. 24, 41-67 (1989).
24. Wiche, G. High-Mr micratubule-associated proteins: properties and functions. Biochem. J. 259, 1-12 (1989).
25. Jones, J.C. & Green, K.J. Intermediate filament-plasma membrane interactions. Curr. Opin. Cell Biol. 3, 127-132 (1991).
26. Foisner, R., Bohn, W., Mannweiler, K. & Wiche, G. Distribution and ultrastructure of plectin arrays in subclones of rat glioma C-6 cells differing in intermediate filament protein (vimentin) expression. J. Struct. Biol. 115, 304-317 (1995).
27. Wiche, G., Gromov, D., Donovan, A., Castanon, M.J. & Fuchs, E. Expression of plectin mutant cDNA in cultured cells indicates a role of COOH-terminal domain in intermediate filament association. J. Cell Biol. 121, 607-619 (1993).
28. Ishida-Yamamoto, A. et al. Epidermolysis bullosa simplex (Dowling-Meara type) is a genetic disease characterized by an abnormal keratin-filament network involving keratins K5 and K14. J. Invest. Derm. 97, 959-968 (1991).
29. Rugg, E.L. et al. A functional "knockout" of human keratin 14. Genes Dev. 8, 2563-2573 (1994).
30. McMillan, J.R. & Eady, R.A.J. Ontogeny of hemidesmosomes in human fetal digit skin. Arch. Derm. Res. 288, 91-97 (1996).
31. Campbell, K.P. Three muscular dystrophies: loss of cytoskeletal-extracellular matrix linkage. Cell 80, 675-679 (1995).
32. Guo, L. et al. Gene targeting of BPAG1: abnormalities in mechanical strength and cell migration in stratified epithelia and neurologic degeneration. Cell 81, 233-234 (1995).
33. Olaisen, B. & Gedde-Dahl Jr, T. GPT-epidermolysis bullosa simplex (EBS Ogna) linkage in man. Hum. Hered. 23, 189-196 (1973).
34. Brown, A., Bernier, G., Mathieu, M., Rossant, J. & Kothary, R. The mouse dystonia musculorum gene is a neural isoform of bullous pemphigoid antigen 1. Nature Genet. 10, 301-306 (1995).
35. Vaughan-Jones, S.A., Palmer, I., Bhogal, B.S., Eady, R.A.J. & Black, M.M. The use of Michel's transport medium for immunfluorescence and immunoelectron microscopy in autoimmune bullous diseases. J. Cut. Path. 22, 365-370 (1995).
36. Kennedy, A.R. et al. Abnormal binding of an anti-amnion antibody provides a novel diagnostic probe for junctional epidermolysis bullosa. Br. J. Derm. 113, 651-659 (1985).
37. Verrando, P. et al. Monoclonal antibody GB3 defines a widespread defect of several basement membranes and a keratinocyte dysfunction in patients with junctional epidermolysis bullosa. Lab. Invest. 64, 84-92 (1991).
38. Matsui, C. et al. γ2 chain of laminin 5 is recognized by monoclonal antibody GB3. J. Invest. Derm. 106, 648-652 (1995).
39. Sonnenberg, A., Janssen, H., Hogervorst, F., Calafat, J. & Hilgers, J. A complex of platelet glycoproteins Ic and IIa identified by a rat monoclonal antibody. J. Biol. Chem. 262, 10376-10383 (1987).
40. Kennel, S.J. et al. Second generation monoclonal antibodies to the human integrin alpha 6 and beta 4. Hybridoma 9, 243-255 (1990).
41. Fine, J.-D., Horiguchi, Y. & Couchman, J.R. 19-DEJ-1, a hemidesmosome-anchoring filament complex associated monoclonal antibody. Arch. Derm. 125, 520-523 (1989).
42. Bancroft, J.D. & Stevens, A. Theory and practice of histological techniques (Churchill Livingstone, London, 1996).
43. Richardson, K.C., Jarret, L. & Finke, E.H. Embedding in epoxy resins for ultrathin sectioning in electron microscopy. Stain Technol. 35, 313-323 (1960).
44. Eady, R.A.J. in Methods in Skin Research (eds Skerrow, D. & Skerrow, C.J.) 1-36 (John Wiley & Sons, Chichester, 1985).
45. Shimizu, H., McDonald, J.N., Kennedy, A.R. & Eady, R.A.J. Demonstration of intra- and extracellular localization of bullous pemphigoid antigen using cryofixation and freeze substitution for post-embedding immunoelectron microscopy. Arch. Derm. Res. 281, 443-448 (1989).
46. Pearson, W.R. & Lipman, J.D. Improved tools for biological sequence comparison. Proc. Natl. Acad. Sci. USA 85, 2444-2448 (1988).
47. Parrish, J.E., Wang, Y., Wagner, M.J. & Wells, D.E. Alignment of physical and genetic maps of human 8q23-qter using a somatic cell hybrid mapping panel. Somat. Cell Genet. 20, 143-146 (1994).
48. Cottingham, R.W., Idury, P.M. & Scharfer, A.A. Faster sequential genetic linkage computations. Am. J. Hum. Genet. 53, 252-263 (1993).
49. Gache, Y. et al. J. Clin. Invest. 97, 2289-2298 (1996).
50. McLean, W.H.I. et al. Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization. Genes Dev. (in the press).