A homozygous mutation in the integrin α6 gene in junctional epidermolysis bullosa with pyloric atresia

Journal of Clinical Investigation

Volumn 99, Issue 12, 1997, Pages 2826-2831

  Ruzzi, Laura ^a   Gagnoux Palacios, Laurent ^b   Pinola, Mari ^a   Belli, Serena ^c   Meneguzzi, Guerrino ^b   D'Alessio, Marina ^a   Zambruno, Giovanna ^a  

^a LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

^b INSERM   (France)

^c SANTA CHIARA HOSPITAL   (Italy)

Author keywords

Hemidesmosome; Inherited epidermolysis bullosa; Integrin 6 gene; Keratinocyte; Mutation

Indexed keywords

DNA; INTEGRIN;

ARTICLE; ATRESIA; CASE REPORT; CONTROLLED STUDY; EPIDERMOLYSIS BULLOSA; FETUS; GENE DELETION; GENE MUTATION; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; PRIORITY JOURNAL; PYLORUS; SKIN APLASIA;

EID: 0030912738     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI119474     Document Type: Article

References (42)

1. Hynes, R.O. 1992. Integrins: versatility, modulation and signaling in cell adhesion, Cell. 69:11-25.
2. Dedhar, S., and G.E. Hannigan. 1996. Integrin cytoplasmic interactions and bidirectional transmembrane signalling. Curr. Opin. Cell Biol. 8:657-669.
3. Tamura, R.N., C. Rozzo, L. Starr, J. Chambers, L.F. Reichardt, H.M. Cooper, and V. Quaranta. 1990. Epithelial integrin α6β4: complete primary structure of α6 and variant forms of β4. J. Cell Biol. 111:1593-1604.
4. Hogervorst, F., I. Kuikman, A.G. Van Kessel, and A. Sonnenberg. 1991. Molecular cloning of the human α6 integrin subunit. Alternative splicing of the a6 mRNA and chromosomal localization of the α6 and β4 genes. Eur. J. Biochem. 199:425-433.
5. Sonnenberg, A., C.J.T. Linders, J.H. Daams, and S.J. Kennel. 1990. The α6β1 (VLA-6) and α6β4 protein complexes: tissue distribution and biochemical properties. J. Cell Sci. 96:207-217.
6. Hogervorst, F., L.G. Admiraal, C. Niessen, I. Kuikman, H. Janssen, H. Daams, and A. Sonnenberg. 1993. Biochemical characterization and tissue distribution of the A and B variants of the integrin α6 subunit. J. Cell Biol. 121: 179-191.
7. Collo, G., S.Z. Domanico, G. Klier, and V. Quaranta. 1995. Gradient of integrin α6A distribution in the myocardium during early heart development. Cell. Adh. Comm. 3:101-113.
8. Falk, M., K. Salmivirta, M. Durbeej, E. Larsson, M. Ekblom, D. Vestweber, and P. Ekblom. 1996. Integrin α6Bβ1 is involved in kidney tubulogenesis in vitro. J. Cell Sci. 109:2801-2810.
9. Stepp, M.A., S. Spurr-Michaud, A. Tisdale, J. Elwell, and I.K. Gipson. 1990. α6β4 integrin heterodimer is a component of hemidesmosomes. Proc. Natl. Acad. Sci. USA. 87:8970-8974.
10. Sonnenberg, A., J. Calafat, H. Janssen, H. Daams, L.M.H. van der Raaij-Helmer, R. Falcioni, S.J. Kennel, J.D. Aplin, J. Baker, M. Loizidou, and D. Garrod. 1991. Integrin α6/β4 complex is located in hemidesmosomes, suggesting a major role in epidermal cell-basement membrane adhesion. J. Cell Biol. 113:907-917.
11. Jones, J.C.R., M.A. Kurpakus, H.M. Cooper, and V. Quaranta. 1991. A function for the integrin α6β4 in the hemidesmosomes. Cell Regul. 2:427-438.
12. Borradori, L., and A. Sonnenberg. 1996. Hemidesmosomes: roles in adhesion, signaling and human diseases. Curr. Opin. Cell Biol. 8:647-656.
13. Dewel, G.O., and A. Sonnenberg. 1996. Laminin isoforms and their integrin receptors. In Adhesion Receptors as Therapeutic Targets. M. Horton, editor. CRC Press, Inc., Boca Raton, FL. 9-36.
14. Gil, S.G., T.A. Brown, M.C. Ryan, and W.G. Carter. 1994. Junctional epidermolysis bullosis: defects in expression of epiligrin/nicein/kalinin and integrin β4 that inhibit hemidesmosome formation. J. Invest. Dermatol. 103:31s-38s.
15. Shimizu, H., K. Suzumori, N. Hatta, and T. Nishikawa. 1996. Absence of detectable α6 integrin in pyloric atresia-junctional epidermolysis bullosa syndrome. Arch. Dermatol. 132:919-925.
16. Niessen, C.M., L.M.H. van der Raaij-Helmer, E.H.M. Hulsman, R. van der Neut, M.F. Jonkman, and A. Sonnenberg. 1996. Deficiency of the integrin β4 subunit in junctional epidermolysis bullosa with pyloric atresia: consequences for hemidesmosome formation and adhesion properties. J. Cell Sci. 109:1695-1706.
17. Vidal, F., D. Aberdam, C. Miquel, A.M. Christiano, L. Pulkkinen, J. Uitto, J.-P. Ortonne, and G. Meneguzzi. 1995. Integrin β4 mutations associated with junctional epidermolysis bullosa with pyloric atresia. Nat. Genet. 10:229-234.
18. Fine, J.-D., E.A. Bauer, R.A. Briggaman, D.M. Carter, R.A.J. Eady, N.B. Esterly, K.A. Holbrook, S. Hurwitz, L. Johnson, A. Lin, et al. 1991. Revised clinical and laboratory criteria for subtypes of epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry. J. Am. Acad. Dermatol. 24:119-135.
19. Aberdam, D., M.-F. Galliano, J. Vailly, L. Pulkkinen, J. Bonifas, A.M. Christiano, K. Tryggvason, J. Uitto, E.H. Epstein, Jr., J.-P. Ortonne, and G. Meneguzzi. 1994. Herlitz's Junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the γ2 subunit of nicein/kalinin (LAMININ-5). Nat. Genet. 6:299-304.
20. Pulkkinen, L., A.M. Christiano, D. Gerecke, D.W. Wagman, R.E. Burgeson, M.R. Pittelkow, and J. Uitto. 1994. A homozygous nonsense mutation in the β3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa. Genomics. 24:357-360.
21. McGrath, J.A., B. Gatalica, A.M. Christiano, K. Li, K. Owaribe, J.R. McMillan, R.A.J. Eady, and J. Uitto. 1995. Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmemhrane collagen (COL17A1). in generalized atrophic benign epidermolysis bullosa. Nat. Genet. 11:83-86.
22. Kanitakis, J., G. Zambruno, J. Viac, L. Tommaselli, and J. Thivolet. 1989. Expression of an estrogen receptor-associated protein (p29) in epithelial tumors of the skin. J. Cutaneous. Pathol. 16:272-276.
23. Sonnenberg, A., H. Janssen, F. Hogervorst, J. Calafat, and J. Hilgers. 1987. A complex of platelet glycoproteins Ic and IIa identified by a rat monoclonal antibody. J. Biol. Chem. 262:10376-10383.
24. Kennel, S.J., R.G. Epler, T.K. Lankford, V. Dickas, M. Canamucio, R. Cavalierie, M. Cosimelli, I. Venturo, and A. Sacchi. 1990. Second generation monoclonal antibodies to the human integrin α6β4. Hybridoma. 9:243-255.
25. Verrando, P., C. Blanchet-Bardon, A. Pisani, L. Thomas, F. Cambazard, R.A.J. Eady, O. Schofield, and J.-P. Ortonne. 1991. Monoclonal antibody GB3 defines a widespread defect of several basement membranes and a keratinocyte dysfunction in patients with lethal junctional epidermolysis bullosa. Lab. Invest. 64:85-92.
26. Tanaka, T., N.J. Korman, H. Shimizu, R.A.J. Eady, V. Klaus-Kovtun, K. Cehrs, and J.R. Stanley. 1990. Production of rabbit antibodies against carboxy-terminal epitopes encoded by bullous pemphigoid cDNA. J. Investig. Dermatol. 94:617-623.
27. Owaribe, K., Y. Nishizawa, and W.W. Franke. 1991. Isolation and characterization of hemidesmosomes from bovine corneal epithelial cells. Exp. Cell Res. 192:622-630.
28. Fradet, Y., C. Cordon-Cardo, T.M. Thomson, M.E. Daly, W.F. Whitmore, K.O. Lloyd, M.R. Melamed, and L.J. Old. 1984. Cell surface antigens of human bladder cancer defined by mouse monoclonal antibodies. Proc. Natl. Acad. Sci. USA. 81:224-228.
29. Zambruno, G., P.C. Marchisio, A. Marconi, C. Vaschieri, A. Melchiori, A. Giannetti, and M. De Luca. 1995. Transforming growth factor-β1 modulates β1 and β5 integrin receptors and induces the de novo expression of the αvβ6 heterodimer in normal human keratinocytes: implications for wound healing. J. Cell Biol. 129:853-865.
30. Chomczynski, P., and N. Sacchi. 1987. Single-step method of RNA isolation by acid guanidium thiocyanate-phenol-chloroform extraction. Anal. Biochem. 162:156-159.
31. Hogervorst, F., I. Kuikman, A.E.G. von dem Borne, and A. Sonnenberg. 1990. Cloning and sequence analysis of β4 cDNA: an integrin subunit that contains a unique 118 kD cytoplasmic domain. EMBO (Eur. Mol. Biol. Organ.) J. 9:765-770.
32. McIntosh, I., A. Hamosh, and H.C. Dietz. 1993. Nonsense mutations and diminished mRNA levels. Nat. Gener. 4:219.
33. Cui, Y., K.W. Hagan, S. Zhang, and S.W. Peltz. 1995. Identification and characterization of genes that are required for the accelerated degradation of mRNAs containing a premature translation termination codon. Genes Dev. 9: 423-436.
34. Mainiero, F., A. Pepe, K.K. Wary, L. Spinardi, M. Mohammadi, J. Schlessinger, and F.G. Giancotti. 1995. Signal transduction by the α6β4 integrin: distinct β4 subunit sites mediate recruitment of Shc/Grb2 and association with the cytoskeleton of hemidesmosomes. EMBO (Eur. Mol. Biol. Organ.) J. 14:4470-4481.
35. Spinardi, L., S. Einheber, T. Cullen, T.A. Milner, and F.G. Giancotti. 1995. A recombinant tail-less integrin β4 subunit disrupts hemidesmosomes, but does not suppress α6β4-mediated cell adhesion to laminins. J. Cell Biol. 129:473-487.
36. Lestringant, G.G., S.R. Akel, and K.I. Qayed. 1992. The pyloric atresia-junctional epidermolysis bullosa syndrome. Arch. Dermatol. 128:1083-1086.
37. Mainiero, F., A. Pepe, M. Yeon, Y. Ren, and F.G. Giancotti. 1996. The intracellular functions of α6β4 integrin are regulated by EGF. J. Cell Biol. 134: 241-253.
38. Zambruno, G., G. Girolomoni, V. Manca, A. Segre, and A. Giannetti. 1990. Epidermal growth factor and transferrin receptor expression in human embryonic and fetal epidermal cells. Arch. Dermatol. Res. 282:544-548.
39. Carter, W.G., M.C. Ryan, and P.J. Gahr. 1991. Epiligrin, a new cell adhesion ligand for integrin α3β1 in epithelial basement membranes. Cell. 65: 599-610.
40. Van der Neut, R., P. Krimpenfort, J. Calafat, C.M. Niessen, and A. Sonnenberg. 1996. Epithelial detachment due to absence of hemidesmosomes in integrin β4 null mice. Nat. Genet. 13:366-369.
41. 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.
42. Georges-Labouesse, E., N. Messaddeq, G. Yehia, L. Cadalbert, A. Dierich, and M. Le Meur. 1996. Absence of integrin α6 leads to epidermolysis bullosa and neonatal death in mice. Nat. Genet. 13:370-373.