Targeted inactivation of plectin reveals essential function in maintaining the integrity of skin, muscle, and heart cytoarchitecture

Genes and Development

Volumn 11, Issue 23, 1997, Pages 3143-3156

  Andrä, Kerstin ^a   Lassmann, Hans ^b   Bittner, Reginald ^c   Shorny, Sigrid ^c   Fässler, Reinhard ^d   Propst, Friedrich ^a   Wiche, Gerhard ^a  

^a Vienna Biocenter   (Austria)

^b MEDICAL UNIVERSITY OF VIENNA   (Austria)

^c UNIVERSITY OF VIENNA   (Austria)

^d MAX PLANCK INSTITUTE OF BIOCHEMISTRY   (Germany)

Author keywords

Cytoskeleton; EBS MD; Gene targeting; Hemidesmosome; Plectin; Skin and muscle cytoarchitecture

Indexed keywords

CYTOSKELETON PROTEIN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; CYTOARCHITECTURE; DESMOSOME; EPIDERMOLYSIS BULLOSA; GENE REPRESSION; GENE TARGETING; HEART MUSCLE; HEMIDESMOSOME; MOUSE; MUSCULAR DYSTROPHY; NONHUMAN; PRIORITY JOURNAL; PROTEIN DEFECT;

ANIMALIA;

EID: 0030721040     PISSN: 08909369     EISSN: None     Source Type: Journal    
DOI: 10.1101/gad.11.23.3143     Document Type: Article

References (47)

1. Bertini, E., C. Bosman, M. Bevilacqua, E. Ricci, G.M. Gagliardi F. Parisi, S. Servidei, V.C. Dionisi, and L. Ballerini. 1990. Cardiomyopathy and multicore myopathy with accumulation of intermediate filaments. Eur. J. Pediatr. 149: 856-858.
2. Bierkamp, C., J.K. McLaughlin, H. Schwarz, O. Huber, and R. Kemler. 1996. Embryonic heart and skin defects in mice lacking plakoglobin. Dev. Biol. 180: 780-785.
3. Chan, Y., I. Anton-Lamprecht, Q.-C. Yu, A. Jäckel, B. Zabel, J.P. Ernst, and E. Fuchs. 1994. A human keratin 14 "knock out": the absence of K14 leads to severe epidermolyis bullosa simplex and a function for an intermediate filament protein. Genes & Dev. 8: 2574-2587.
4. Chavanas, S., L. Pulkkinen, Y. Gache, F.J.D. Smith, W.H.I. McLean, J. Uitto, J.P. Ortonne, and G. Meneguzzi. 1996. A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy. J. Clin. Invest. 98: 2196-2200.
5. Chomczynski, P. and N. Sacchi. 1987. Single-step method of RNA isolation by acid guanidium thiocyanate-phenol-chlo-roform extraction. Anal. Biochem. 162: 156-159.
6. Dowling, J., Q.-C. Yu, and E. Fuchs. 1996. β4 Integrin is required for hemidesmosome formation, cell adhesion and cell survival. J. Cell Biol. 134: 559-572.
7. Eger, A., A. Stockinger, G. Wiche, and R. Foisner. 1997. Polarization dependent association of plectin with desmoplakin and the lateral submembrane skeleton in MDCK cells. J. Cell Sci. 110: 1307-1316.
8. Elliott, C.E., B. Becker, S. Oehler, M.J. Castañón, R. Hauptmann, and G. Wiche. 1997. Plectin transcript diversity: Identification and tissue distribution of variants with distinct first coding exons and rodless isoforms. Genomics 42: 115-125.
9. Errante, L.D., G. Wiche, and G. Shaw. 1994. Distribution of plectin, an intermediate filament-associated protein, in the adult rat central nervous system. J. Neurosci. Res. 37: 515-528.
10. Foisner, R., P. Traub, and G. Wiche. 1991. Protein kinase A- and protein kinase C-regulated interaction of plectin with lamin B and vimentin. Proc. Natl. Acad. Sci 88: 3812-3816.
11. Foisner, R., B. Feldman, L. Sander, G. Seifert, U. Artlieb, and G. Wiche. 1994. A panel of monoclonal antibodies to rat plectin: distinction by epitope mapping and immunoreactivity with different tissues and cell lines. Acta Histochem. 96: 421-438.
12. 6 cells differing in intermediate filament protein (vimentin) expression. J. Struct. Biol. 115: 304-317.
13. Fuchs, R. 1996. The cytoskeleton and disease: Genetic disorders of intermediate filaments. Annu. Rev. Genet. 30: 197-231.
14. Gache, Y., S. Chavanas, J.P. Lacour, G. Wiche, K. Owaribe, G. Meneguzzi, and J.P. Ortonne. 1996. Defective expression of Plectin/HD1 in epidermolysis bullosa simplex with mucular dystrophy. J. Clin. Invest. 97: 2289-2298.
15. Georges-Labouesse, E., N. Messaddeq, Y. Ghassan, L. Cadalbert, A. Dierich, and M. LeMeur. 1996. Absence of integrin alpha6 leads to epidermolysis bullosa and neonatal death in mice. Nature Genet. 13: 370-373.
16. Giancotti, F.G., M.A. Stepp, S. Suzuki, E. Engvall, and E. Ruoslahti. 1992. Proteolytic processing of endogenous and recombinant β4 integrin subunit. J. Cell Biol. 118: 951-959.
17. Green, K.J., D.A.D. Parry, P.M. Steinert, M.L.A. Virata, R.M. Wagner, B.D. Angst, and L.A. Nilles. 1990. Structure of the human desmoplakins. Implications for function in the desmosomal plaque. J. Biol. Chem. 265: 2603-2612.
18. Guo, L., L. Degenstein, J. Dowling, Q.C. Yu, R. Wollmann, B. Perman, and E. Fuchs. 1995. Gene targeting of BPAG1: Abnormalities in mechanical strength and cell migration in stratified epithelia and neurologic degeneration. Cell 81: 233-243.
19. Hashimoto, T., M. Amagai, T. Ebihara, S. Gamou, N. Shimizu, T. Tsubata, A. Hasegawa, K. Miki, and T. Nishikawa. 1993. Further analyses of epitopes for human monoclonal anti-basement membrane zone antibodies produced by stable human hybridoma cell lines constructed with Epstein-Barr virus transformants. J. Invest. Dermatol. 100: 310-315.
20. Herrmann, H. and G. Wiche. 1987. Plectin and IFAP-300K are homologous proteins binding to microtubule-associated proteins 1 and 2 and to the 240-kilodalton subunit of spectrin. J. Biol. Chem. 262: 1320-1325.
21. Hieda, Y., Y. Nishizawa, J. Vematsu, and K. Owaribe. 1992. Identification of a new hemidesmosomal protein HD1: A major high molecular mass component of isolated hemidesmosomes. J. Cell Biol. 116: 1497-1506.
22. Hogan, B., R. Beddington, F. Constantini, and E. Lacy. 1994. Manipulating the mouse embryo. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
23. Kennel, S.J., L.J. Foote, R. Falcioni, A. Sonnenberg, C.D. Stringer, C. Crouse, and M.E. Hemler. 1989. Analysis of the tumor-associated antigen TSP-180. Identity with α6-β4 in the integrin superfamily. J. Biol. Chem. 264: 15515-15521.
24. Koss-Harnes, D., F.L. Jahnsen, G. Wiche, E. Søyland, P. Brandtzaeg, and T. Gedde-Dahl Jr. 1996. Plectin abnormality in Epidermolysis Bullosa Simplex Ogna: Non-responsiveness of basal keratinocytes to some anti-rat plectin antibodies. Exp. Dermatol. 6: 41-48.
25. Liu, C.-g., C. Maercker, M.J. Castañón, R. Hauptmann, and G. Wiche. 1996. Human plectin: Organization of the gene, sequence analysis, and chromosome localization (8q24). Proc. Natl. Acad. Sci 93: 4278-4283.
26. Magliocco, A.M., L.B. Mitchell, A.K. Brownwell, and W.M. Lester. 1989. Dilated cardiomyopathy in multicore myopathy. Am. J. Cardiol. 63: 150-151.
27. McLean, W.H.I., L. Pulkkinen, F.J.D. Smith, E.L. Rugg, E.B. Lane, F. Bullrich, R.E. Burgeson, S. Amano, D.L. Hudson, K. Owaribe, J.A. McGrath, J.R. McMillan, R.A.J. Eady, I.M. Leigh, A.M. Christiano, and J. Uitto. 1996. Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization. Genes &. Dev. 10: 1724-1735.
28. Nagy, A., J. Rossant, R. Nagy, W. Abramov-Newerly, and J.C. Roder. 1992. Derivation of completely cell culture derived mice from early-passage embryonic stem cells. Proc. Natl. Acad. Sci 90: 8424-8428.
29. Nikolic, B., E. Mac Nulty, B. Mir, and G. Wiche. 1996. Basic amino acid residue cluster within nuclear targeting sequence motif is essential for cytoplasmic plectin-vimentin network junctions. J. Cell Biol. 134: 1455-1467.
30. Penegyres, P.K. and B.A. Kakulas. 1991. The natural history of minicore-multicore myopathy. Muscle Nerve 14: 411-415.
31. Pulkkinen, L., F.J.D. Smith, H. Shimizu, S. Murata, H. Yaoita, H. Hachisuka, T. Nishikawa, W.H.I. McLean, and J. Uitto. 1996. Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy. Hum. Mol. Gen. 5: 1539-1546.
32. Rugg, E.L., I.W.H. McLean, E.B. Lane, R. Pitera, R.J. McMillan, P.J.C. Heppenstal, H.A. Navsaria, I.M. Leigh, and A.J. Eady. 1994. A functional "knockout" of human keratin 14. Genes & Dev. 8: 2563-2573.
33. Ruhrberg, C., M.A. Nasser Hajibagheri, M. Simon, T.P. Dooley, and F.M. Watt. 1996. Envoplakin, a novel precursor of the cornified envelope that has homology to desmoplakin. J. Cell Biol. 134: 715-729.
34. Ruiz, P., V. Brinkmann, B. Ledermann, M. Behrend, C. Grund, C. Thalhammer, F. Vogel, C. Birchmeier, U. Günther, W.W. Franke, and W. Birchmeier. 1996. Targeted mutation of plakoglobin in mice reveals essential function of desmosomes in the embryonic heart. J. Cell Biol. 135: 215-225.
35. Sanchez-Aparicio, P., M. de Velasco, C.M. Niessen, C.M. Borradori, L. Kuikman, E.H.M Hulsman, R. Fässler, K. Owaribe, and A. Sonnenberg. 1997. The subcellular distribution of the high molecular mass protein HD-1 is determined by the cytoplasmic domain of integrin β4 subunit. J. Cell Sci. 10: 169-178.
36. Sawamura, D., K. Li, M.-L. Chou, and J. Uitto. 1991. Human bullous pemphigoid antigen (BPAG1). J. Biol. Chem. 266: 17784-17790.
37. Seifert, G.J., D. Lawson, and G. Wiche. 1992. Immunolocalization of the intermediate filament-associated protein plectin at focal contacts and actin stress fibers. Eur. J. Cell Biol. 59: 138-147.
38. Smith, F.J.D., R.A.J. Eady, I.M. Leigh, J.R. McMillan, E.L. Rugg, D.P. Kelsell, S.P. Bryant, N.K. Spurr, J.F. Geddes, G. Kirtschig, G. Milana, A.G. de Bono, K. Owaribe, G. Wiche, L. Pulkkinen, J. Uitto, W.H.I. McLean, and E.B. Lane. 1996. Plectin deficiency results in muscular dystrophy with Epidermolysis bullosa. Nature Genet. 13: 450-457.
39. Svitkina, T.M., A.B. Verkhovsky, and G.G. Borisy. 1996. Plectin sidearms mediate interaction of intermediate filaments with microtubules and other components of the cytoskeleton. J. Cell Biol. 135: 991-1007.
40. Uitto, J., L. Pulkkinen, F.J.D. Smith, and W.H.I. McLean. 1996. Plectin and human genetic disorders of the skin and muscle. Exp. Dermatol. 5: 237-246.
41. van der Neut, R., P. Krimpenfort, J. Calafat, C.M. Niessen, and A. Sonnenberg. 1996. Epithelial detachment due to the absence of hemidesmosomes in integrin β4 null mice. Nature Genet. 13: 366-369.
42. Vassar, R., P.A. Coulombe, L. Degenstein, K. Albers, and E. Fuchs. 1991. Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease. Cell 64: 365-380.
43. Wiche, G. 1989. 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.
44. Wiche, G., R. Krepler, U. Artlieb, R. Pytela, and H. Denk. 1983. Occurrence and immunolocalization of plectin in tissues. J. Cell Biol. 97: 887-901.
45. Wiche, G., R. Krepler, U. Artlieb, R. Pytela, and W. Aberer. 1984. Identification of plectin in different human cell types and immunolocalization at epithelial basal cell surface membranes. Exp. Cell Res. 155: 43-49.
46. Wiche, G., B. Becker, K. Luber, G. Weitzer, M.J. Castañón, R. Hauptmann, C. Stratowa, and M. Stewart. 1991. 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.
47. Yang, Y.M., J. Dowling, Q.C. Yu, P. Kouklis, D.W. Cleveland, and E. Fuchs. 1996. An essential cytoskeletal linker protein connecting actin microfilaments to intermediate filaments. Cell 86: 655-665.