Defective integrin α6β4 expression in the skin of patients with junctional epidermolysis bullosa and pyloric atresia

Journal of Investigative Dermatology

Volumn 107, Issue 3, 1996, Pages 384-391

  Brown, Tod A ^a   Gil, Susana G ^a   Sybert, Virginia P ^b   Lestringant, Gilles G ^c   Tadini, Gianluca ^d   Caputo, Ruggero ^d   Carter, William G ^a,e  

^a Fred Hutchinson Cancer Research Center   (United States)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^c TAWAM HOSPITAL   (United Arab Emirates)

^d UNIVERSITY OF MILAN   (Italy)

^e UNIVERSITY OF WASHINGTON   (United States)

Author keywords

Cell adhesion; Epidermis; Hemidesmosomes; Vesiculobullous skin diseases

Indexed keywords

INTEGRIN; LAMININ;

ADOLESCENT; ADULT; ARTICLE; ATRESIA; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; EPIDERMOLYSIS BULLOSA; FEMALE; FETUS; HUMAN; HUMAN TISSUE; INFANT; MALE; NEWBORN; PRIORITY JOURNAL; PYLORUS;

EID: 0029813342     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1111/1523-1747.ep12363370     Document Type: Article

References (59)

1. Anderson DC, Springer TA: Leukocyte adhesion deficiency: an inherited defect in the Mac-1, LFA-1, and p150,95 glycoproteins. Annu Rev Med 38:175-194, 1987
2. Bauer EA, Briggaman RA: Hereditary epidermolysis bullosa. In: Fitzpatrick, TP (chief ed.). Dermatology in General Medicine. 4th ed. McGraw-Hill, New York, 1993, pp 654-669
3. Carter WG, Gil SG, Symington BE, Brown TA, Hattori S, Ryan MC: Integrin receptors and epiligrin in cell-cell and cell-substratum adhesion in the epidermis. In: Takada Y (ed.). Integrin: The Biological Problem. CRC Press, Boca Raton, FL, 1994, pp 147-176
4. Carter WG, Kaur P, Gil SG, Gahr PJ, Wayner EA: Distinct functions for integrins α3β1 in focal adhesions and α6β4/bullous pemphigoid antigen in a new stable anchoring contact (SAC) of keratinocytes: relation to hemidesmosomes. J Cell Biol 111:3141-3154, 1990a
5. Carter WG, Ryan MC, Gahr PJ: Epiligrin, a new cell adhesion ligand for integrin α3β1 in epithelial basement membranes. Cell 65:599-610, 1991
6. Carter WG, Wayner EA, Bouchard TS, Kaur P: The role of integrins α2β1 and α3β1 in cell-cell and cell-substrate adhesion of human epidermal cells. J Cell Biol 110:1387-1404, 1990b
7. Clarke EA, Brugge JS: Integrins and signal transduction pathways: the road taken. Science 268:233-239, 1995
8. Dolan CR, Smith LT, Sybert VP: Prenatal detection of epidermolysis bullosa lethalis with pyloric atresia in a fetus by abnormal ultrasound and elevated alpha-fetoprotein. Am J Med Genet 47:395-400, 1993
9. Domloge-Hultsch N, Gammon WR, Briggaman RA, Gil SG, Carter WG, Yancey KB: Epiligrin, the major human keratinocyte integrin ligand, is a target in both an acquired autoimmune and an inherited subepidermal blistering skin disease. J Clin Invest 90:1628-1633, 1992
10. Epstein EH Jr: Molecular genetics of epidermolysis bullosa. Science 256:799-804, 1992
11. Fine JD, Bauer EA, Briggman RA, Carter DM, Eady RAJ, Esterly NB, Holbrook KA, Hurwitz S, Johnson L, Lin A, Pearson R, Sybert VP: Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. J Am Acad Dermatol 24:119-135, 1991
12. Fuchs E, Byrne C: The epidermis: rising to the surface. Curr Opin Genet Dev 4:725-736, 1994
13. Gerecke DR, Wagman DW, Champliaud MF, Burgeson RE: The complete primary structure for a novel laminin chain, the laminin B1k chain. J Biol Chem 269:11073-11080, 1994
14. Gil SG, Brown TA, Ryan MC, Carter WG: Junctional epidermolysis bullosis: defects in expression of epiligrin/nicein/kalinin and integrin β4 that inhibit hemidesmosome formation. J Invest Dermatol 103:315-385, 1994
15. Giudice GJ, Emery DJ, Diaz LA: Cloning and primary structural analysis of the bullous pemphigoid autoantigen BP180. J Invest Dermatol 99:243-250, 1992
16. Hoffstrom BG, Wayner EA: Immunohistochemical techniques to study the extracellular matrix and its receptors. Methods Enzymol 245:316-346, 1994
17. Hogervost F, Kuikamn I, van Kessel AG, Sonnenberg A: Molecular cloning of the human alpha 6 integrin subunit. Alternative splicing of alpha 6 mRNA and chromosomal localization of the alpha6 and beta4 genes. Eur J Biochem 199:425-433, 1991
18. Hopkinson SB, Riddelle KS, Jones JCR: Cytoplasmic domain of the 180-kD bullous pemphigoid antigen, a hemidesmosomal component: molecular and cell biologic characterization. J Invest Dermatol 99:264-270, 1992
19. Hynes RO: Integrins: versatility, modulation, and signalling in cell adhesion. Cell 69:11-25, 1992
20. Jones JCR, Kurpakus MA, Cooper HM, Quaranta V: A function for the integrin α6β4 in the hemidesmosome. Cell Regul 2:427-438, 1991
21. Jonkman MF, de Jong MCJM, Heeres K, Pas HH, van der Meer JB, Owaribe K, Martinez de Velasco AM, Niessin CM, Sonnenberg A: 180 kD Bullous pemphigoid antigen (BP180) is deficient in generalized atrophic benign epidermolysis bullosa. J Clin Invest 95:1345-1352, 1995
22. Jonkman MF, de Jong MCJM, Heeres K, Sonnenberg A: Expression of integrin α6β4 in junctional epidermolysis bullosa. J Invest Dermatol 99:489-496, 1992
23. Kallunki P, Sainio K, Eddy R, Byers M, Kallunki T, Sariola H, Beck K, Hirvonen H, Shows TB, Tryggvason K: A truncated laminin chain homologous to the B2 chain: structure, spatial expression, and chromosomal assignment. J Cell Biol 119:679-693, 1992
24. Kennel SJ, Epler RG, Lankford TK, Foote LJ, Dickas V, Canamucio M, Cavalerie R, Cosimelli M, Venturo I, Falcioni R, Sacchi A: Second generation monoclonal antibodies to the human integrin alpha 6 beta 4. Hybridoma 9:243-255, 1990
25. Kivirikko S, McGrath JA, Pulkkinen L, Uitto J, Christiano AM: Mutational hotspots in the LAMB3 gene in lethal (Herlitz) type of junctional epidermolysis bullosa. Hum Mol Genet 5:231-237, 1996
26. Kurpakus MA, Jones JCR: A novel hemidesmosomal plaque component: tissue distribution and incorporation into assembling hemidesmosomes in an in vitro model. Exp Cell Res 194:139-146, 1991
27. LaCour JP, Hoffman P, Bastiani-Griffet F, Boutte P, Pisani A, Ortonne JP: Lethal junctional bullosa with normal expression of BM600 and antro-pyloric atresia: a new variant of junctional epidermolysis bullosa? Eur J Pediatr 151:252-257, 1992
28. Legan PK, Collins JE, Garrod DR: The molecular biology of desmosomes and hemidesmosomes: 'what's in a name?' Bioessays 14:385-393, 1992
29. Lestringant GG, Akel SR, Qayed KI: The pyloric atresia-junctional bullosa syndrome. Arch Dermatol 128:1083-1086, 1992
30. Liebert M, Wedemeyer G, Stein JA, Washington RW Jr, Van Waes C, Carey TE, Grossman HB: The monoclonal antibody BQ16 identifies the α6β4 integrin on bladder cancer. Hybridoma 12:67-80, 1993
31. Marchisio PC, Cremona O, Saoia P, Pellegrini G, Ortonne J-P, Verrando P, Burgeson RE, Cancedda R, DeLuca M: The basement membrane protein BM600/nicein codistributes with kalinin and the integrin α6β4 in human cultured keratinocytes. Exp Cell Res 205:205-212, 1993
32. Matsui C, Nelson CF, Hernandez GT, Herron GS, Bauer EA, Hoeffler WK: Gamma-2 chain of laminin-5 is recognized by monoclonal antibody GB3. J Invest Dermatol 105:648-652, 1995
33. McGrath JA, Pulkkinen L, Christiano AM, Leigh IM, Eady RAJ, Uitto J: Altered laminin 5 expression due to mutations in the gene encoding the β3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa. J Invest Dermatol 104:467-474, 1995
34. Meneguzzi G, Marinkovich MP, Aberdam D, Pisani A, Burgeson R, Ortonne JP: Kalinin is abnormally expressed in epithelial basement membranes of Herlitz's junctional epidermolysis bullosa patients. Exp Dermatol 1:221-229, 1992
35. Michalaki H, Staquet M-J, Cerri A, Berti E, Roche P, Machado P, Nicolas J-F: Expression of the alpha 6 beta 4 integrin in lesional skin differentiates bullous pemphigoid (BP) from epidermolysis bullosa acquisita (EBA). J Invest Dermatol 98:204-208, 1992
36. Nazzaro V, Nicolini U, De Luca L, Berti E, Caputo R: Prenatal diagnosis of junctional epidermolysis bullosa associated with pyloric atresia. J Med Genet 27:244-248, 1990
37. Nisengard RJ, Blaszczyk M, Chorzelski T, Beutner E: Immunofluorescence of biopsy specimens: comparison of methods of transportation. Arch Dermatol 114:1329-1332, 1978
38. O'Toole TE, Loftus JC, Plow EF, Glass AA, Harper JR, Ginsberg MH: Efficient surface expression of platelet GPIIb-IIIa requires both subunits. Blood 74:14-18, 1989
39. Phillips RJ, Aplin JD, Lake BD: Antigenic expression of integrin α6β4 in junctional epidermolysis bullosa. Histopathology 24:571-576, 1994
40. Quaranta V, Jones JCR: The internal affairs of an integrin. Trends Cell Biol 1:2-4, 1991
41. Rousselle P, Lunstrum GP, Keene DR, Burgeson RE: Kalinin: an epithelium-specific basement membrane adhesion molecule that is a component of anchoring filaments. J Cell Biol 114:567-576, 1991
42. Ryan MC, Tizard R, VanDevanter DR, Carter WG: Cloning of the LAMA3 gene encoding the α3 chain of the adhesive ligand epiligrin. J Biol Chem 269:22779-22787, 1994
43. Schofield OMV, Fine JD, Verrando P, Heagerty AHM, Ortonne JP, Eady RAJ: GB3 monoclonal antibody for the diagnosis of junctional epidermolysis bullosa: results of a multicenter study. J Am Acad Dermatol 23:1078-1083, 1990
44. Schwarz MA, Owaribe K, Kartenbeck J, Franke WW: Desmosomes and hemidesmosomes: constitutive molecular components. Annu Rev Cell Biol 6:461-491, 1991
45. Smith LT, Miller AW, Kirz DA, Elias S, Brumbaugh S, Holbrook KA: Separation of noncutaneous epithelia in a fetus diagnosed in utero with junctional epidermolysis bullosa. Pediatr Res 31:561-566, 1992
46. Sonnenberg A: Laminin receptor on platelets is the integrin VLA-6. Nature 336:487-489, 1988
47. Sonnenberg A, Calafat J, Jansen H, Daams H, van der Raaij-Helmer LMH, Falcioni R, Kennel SJ, Aplin JD, Baker J, Loizidou M, Garrod D: Integrin α6β4 complex is located in hemidesmosomes, suggesting a major role in epidermal cell-basement membrane adhesion. J Cell Biol 113:907-917, 1991
48. Sonnenberg A, Jansen H, Hogervorst F, Calafat J, Hilgers J: A complex of platelet glycoprotein Ic and IIa identified by a rat monoclonal antibody. J Biol Chem 262:10376-10383, 1987
49. Stepp MA, Spurr-Michaud S, Tisdale A, Elwell J, Gipson IK: α6β4 Integrin heterodimer is a component of hemidesmosomes. Proc Natl Acad Sci USA 87:8970-8974, 1990
50. Takada Y, Hemler ME: The primary structure of the VLA-2/collagen receptor α2 subunit (platelet PGIa): homology to other integrins and the presence of a possible collagen-binding domain. J Cell Biol 109:397-407, 1989
51. Tamura RN, Rozzo C, Starr L, Chambers J, Reichardt LF, Cooper HM, Quaranta V: Epithelial integrin α6β4: complete primary structure of α6 and variant forms of β4. J Cell Biol 111:1593-1604, 1990
52. Tanaka T, Parry DAD, Klaus-Kovrun V, Steinart PM, Stanley JR: Comparison of molecularly cloned bullous pemphigoid antigen to desmoplakin I confirms that they define a new family of cell adhesion junction plaque proteins. J Biol Chem 266:12555-12559, 1991
53. Tidman EJ, Eady RAJ: Hemidesmosome heterogeneity in junctional epidermolysis bullosa revealed by morphometric analysis. J Invest Dermatol 86:51-56, 1986
54. Udenfriend S, Stein S, Bohlen P, Dairman W, Leimgruber W, Weigele M: Fluorescamine: a reagent for assay of amino acids, peptides, proteins, and primary amines in the picomolar range. Science 178:871-872, 1972
55. Uitto J, Christiano AM: Molecular genetics of cutaneous membrane zone. J Clin Invest 90:687-692, 1992
56. Valari MD, Phillips RJ, Lake BD, Harper JI: Junctional epidermolysis bullosa and pyloric atresia - a distinct entity - clinical and pathological studies in five patients. Br J Dermatol 133:732-736, 1995
57. Van Waes C, Kozarsky KF, Warren AD, Kidd L, Paugh D, Liebert M, Carey TE: The A9 antigen associated with aggressive human squamous carcinoma is structurally and functionally similar to the newly defined integrin alpha 6 beta 4. Cancer Res 51:2395-2402, 1991
58. Vidal F, Aberdam D, Miquel C, Christiano AM, Pulkkinen L, Uitto J, Ortonne JP, Meneguzzi G: Integrin β4 mutations associated with junctional epidermolysis bullosa with pyloric atresia. Nature Genet 10:229-234, 1995
59. Xia Y, Gil SG, Carter WG: Anchorage mediated by integrin α6β4 to laminin 5 (epiligrin) regulates tyrosine phosphorylation of a membrane-associated 80-kD protein. J Cell Biol 132:727-740, 1996