BP180 gene delivery in junctional epidermolysis bullosa

Gene Therapy

Volumn 6, Issue 1, 1999, Pages 42-47

  Seitz, C S ^a,b   Giudice, G J ^c   Balding, S D ^c   Marinkovich, M P ^a,b   Khavari, P A ^a,b  

^a VA PALO ALTO HEALTH CARE SYSTEM   (United States)

^b STANFORD UNIVERSITY   (United States)

^c MEDICAL COLLEGE OF WISCONSIN   (United States)

Author keywords

BP180 type XVII collagen BPAG2; Epidermolysis bullosa; Gene therapy; Skin disease

Indexed keywords

COLLAGEN; STRUCTURAL PROTEIN; VIRUS VECTOR;

ARTICLE; CELL ADHESION; CONTROLLED STUDY; EPIDERMOLYSIS BULLOSA; EXPRESSION VECTOR; GENE MUTATION; GENE TARGETING; GENE THERAPY; GENE TRANSFER; HUMAN; HUMAN CELL; KERATINOCYTE; PRIORITY JOURNAL; PROTEIN EXPRESSION;

ANIMALS; AUTOANTIGENS; CARRIER PROTEINS; CELL ADHESION; CELLS, CULTURED; COLLAGEN; CYTOSKELETAL PROTEINS; EPIDERMOLYSIS BULLOSA, JUNCTIONAL; GENE THERAPY; GENE TRANSFER TECHNIQUES; GENETIC VECTORS; KERATINOCYTES; MICE; MICE, SCID; NERVE TISSUE PROTEINS; NON-FIBRILLAR COLLAGENS; RETROVIRIDAE; SKIN;

EID: 0032897775     PISSN: 09697128     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.gt.3300809     Document Type: Article

References (40)

1. Lin AN, Carter DM. Epidermolysis bullosa. Annu Rev Med 1993; 44: 189-199.
2. Uitto J, Pulkkinen L, McLean WH. Epidermolysis bullosa: a spectrum of clinical phenotypes explained by molecular heterogeneity. Mol Med Today 1997; 3: 457-465.
3. Paller AS. The genetic basis of hereditary blistering disorders. Curr Opin Pediatr 1996; 8: 367-371.
4. Uitto J, Pulkkinen L, Christiano AM. Molecular basis of the dystrophic and junctional forms of epidermolysis bullosa: mutations in the type VII collagen and kalinin (laminin 5) genes. J Invest Dermatol 1994; 103: 39S-46S.
5. Marinkovich MP. The molecular genetics of basement membrane diseases. Arch Dermatol 1993; 129: 1557-1565.
6. Coulombe PA et al. Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses. Cell 1991; 66: 1301-1311.
7. Bonifas JM, Rothman AL, Epstein EH Jr. Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities (see comments). Science 1991; 254: 1202-1205.
8. Smith FJ et al. Plectin deficiency results in muscular dystrophy with epidermolysis bullosa. Nat Genet 1996; 13: 450-457.
9. McGrath JA et al. Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa. Nat Genet 1995; 11: 83-86.
10. Aberdam D et al. Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5). Nat Genet 1994; 6: 299-304.
11. Pulkkinen L et al. Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa. Nat Genet 1994; 6: 293-297.
12. Vidal F et al. Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia. Nat Genet 1995; 10: 229-234.
13. Ruzzi L et al. A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia. J Clin Invest 1997; 99: 2826-2831.
14. Pulkkinen L et al. Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia. Hum Mol Genet 1997; 6: 669-674.
15. Christiano AM et al. A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa. Nat Genet 1993; 4: 62-66.
16. Hilal L et al. A homozygous insertion-deletion in the type VII collagen gene (COL7A1) in Hallopeau-Siemens dystrophic epidermolysis bullosa. Nat Genet 1993; 5: 287-293.
17. Liu Z et al. A passive transfer model of the organ-specific autoimmune disease, bullous pemphigoid, using antibodies generated against the hemidesmosomal antigen, BP180. J Clin Invest 1993; 92: 2480-2488.
18. Diaz LA et al. Isolation of a human epidermal cDNA corresponding to the 180-kD autoantigen recognized by bullous pemphigoid and herpes gestationis sera. Immunolocalization of this protein to the hemidesmosome. J Clin Invest 1990; 86: 1088-1094.
19. Giudice GJ, Squiquera HL, Elias PM, Diaz LA. Identification of two collagen domains within the bullous pemphigoid autoantigen, BP180. J Clin Invest 1991; 87: 734-738.
20. Giudice GJ, Emery DJ, Diaz LA. Cloning and primary structural analysis of the bullous pemphigoid autoantigen BP180. J Invest Dermatol 1992; 99: 243-250.
21. Masunaga T et al. The extracellular domain of BPAG2 localizes to anchoring filaments and its carboxyl terminus extends to the lamina densa of normal human epidermal basement membrane. J Invest Dermatol 1997; 109: 200-206.
22. Hopkinson SB, Baker SE, Jones JC. Molecular genetic studies of a human epidermal autoantigen (the 180-kD bullous pemphigoid antigen/BP180): identification of functionally important sequences within the BP180 molecule and evidence for an interaction between BP180 and alpha 6 integrin. J Cell Biol 1995; 130: 117-125.
23. Borradori L et al. The localization of bullous pemphigoid antigen 180 (BP180) in hemidesmosomes is mediated by its cytoplasmic domain and seems to be regulated by the beta4 integrin subunit. J Cell Biol 1997; 136: 1333-1347.
24. Gagnoux-Palacios L et al. Functional re-expression of laminin-5 in laminin-gamma2-deficient human keratinocytes modifies cell morphology, motility, and adhesion. J Biol Chem 1996; 271: 18437-18444.
25. Medalie DA et al. Evaluation of human skin reconstituted from composite grafts of cultured keratinocytes and human acellular dermis transplanted to athymic mice. J Invest Dermatol 1996; 107: 121-127.
26. Choate KA, Medalie DA, Morgan JR, Khavari PA. Corrective gene transfer in the human skin disorder lamellar ichthyosis. Nat Med 1996; 2: 1263-1267.
27. Lever WF, Schaumberg-Lever G. Noninfectious vesicular and bullous diseases. In: Histopathology of the Skin. Lippincott: Philadelphia, 1990, pp 622-634.
28. Fan H, Oro AE, Scott MP, Khavari PA. Induction of basal cell carcinoma features in transgenic human skin expressing sonic hedgehog. Nature Med 1997; 3: 788-792.
29. Marinkovich MP et al. Basement membrane proteins kalinin and nicein are structurally and immunologically identical. Lab Invest 1993; 69: 295-299.
30. Deng H, Lin Q, Khavari PA. Sustainable cutaneous gene delivery. Nat Biotechnol 1997; 15: 1388-1391.
31. Freiberg RA et al. A model of corrective gene transfer in X-linked ichthyosis. Hum Molec Genet 1997; 6: 937-943.
32. Fenjves ES, Yao SN, Kurachi K, Taichman LB. Loss of expression of a retrovirus-transduced gene in human keratinocytes. J Invest Dermatol 1996; 106: 576-578.
33. Gerrard AJ, Hudson DL, Brownlee GG, Watt FM. Towards gene therapy for haemophilia B using primary human keratinocytes. Nat Genet 1993; 3: 180-183.
34. Rheinwald JG, Green H. Serial cultivation of strains of human epidermal keratinocytes: the formation of keratinizing colonies from single cells. Cell 1975; 6: 331-343.
35. Choate KA et al. Transglutaminase 1 delivery to lamellar ichthyosis keratinocytes. Hum Gene Ther 1996; 7: 2247-2253.
36. Kinsella TM, Nolan GP. Episomal vectors rapidly and stably produce high-titer recombinant retrovirus. Hum Gene Ther 1996; 7: 1405-1413.
37. Pohla-Gubo G et al. Diminished expression of the extracellular domain of bullous pemphigoid antigen 2 (BPAG2) in the epidermal basement membrane of patients with generalized atrophic benign epidermolysis bullosa. Exp Dermatol 1995; 4: 199-206.
38. Fairley JA et al. Expression pattern of the bullous pemphigoid-180 antigen in normal and neoplastic epithelia. Br J Dermatol 1995; 133: 385-391.
39. Khavari PA et al. BRG1 contains a conserved domain of the SWI2/SNF2 family necessary for normal mitotic growth and transcription. Nature 1993; 366: 170-174.
40. Marinkovich MP, Lunstrum GP, Burgeson RE. The anchoring filament protein kalinin is synthesized and secreted as a high molecular weight precursor. J Biol Chem 1992; 267: 17900-17906.