Keratinocyte-/fibroblast-targeted rescue of Col7a1-disrupted mice and generation of an exact dystrophic epidermolysis bullosa model using a human COL7A1 mutation

American Journal of Pathology

Volumn 175, Issue 6, 2009, Pages 2508-2517

  Ito, Kei ^a   Sawamura, Daisuke ^a   Goto, Maki ^a   Nakamura, Hideki ^a   Nishie, Wataru ^a   Sakai, Kaori ^a   Natsuga, Ken ^a   Shinkuma, Satoru ^a   Shibaki, Akihiko ^a   Uitto, Jouni ^b   Denton, Christopher P ^c   Nakajima, Osamu ^d   Akiyama, Masashi ^a   Shimizu, Hiroshi ^a  

^a HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b THOMAS JEFFERSON UNIVERSITY   (United States)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d YAMAGATA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 7; COLLAGEN TYPE 7 A1; COMPLEMENTARY DNA; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CODON; EPIDERMOLYSIS BULLOSA DYSTROPHICA; GENE DISRUPTION; GENE EXPRESSION; GENE MUTATION; GENE THERAPY; HUMAN; IMMUNOBLOTTING; IMMUNOELECTRON MICROSCOPY; IMMUNOFLUORESCENCE; KERATINOCYTE; MOUSE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SKIN FIBROBLAST; TRANSGENIC MOUSE; WESTERN BLOTTING;

EID: 73549124105     PISSN: 00029440     EISSN: 15252191     Source Type: Journal    
DOI: 10.2353/ajpath.2009.090347     Document Type: Article

References (31)

1. Fine JD, Eady RA, Bauer EA, Bauer JW, Bruckner-Tuderman L, Heagerty A, Hintner H, Hovnanian A, Jonkman MF, Leigh I, McGrath JA, Mellerio JE, Murrell DF, Shimizu H, Uitto J, Vahlquist A, Woodley D, Zambruno G: The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol 2008, 58:931-950
2. Uitto J, Pulkkinen L: Molecular genetics of heritable blistering disorders. Arch Dermatol 2001, 137:1458-1461
3. Heinonen S, Männikkö M, Klement JF, Whitaker-Menezes D, Murphy GF, Uitto J: Targeted inactivation of the type VII collagen gene (Col7a1) in mice results in severe blistering phenotype: a model for recessive dystrophic epidermolysis bullosa. J Cell Sci 1999, 112:3641-3648
4. Fritsch A, Loeckermann S, Kern JS, Braun A, Bösl MR, Bley TA, Schumann H, von Elverfeldt D, Paul D, Erlacher M, von Rautenfeld DB, Hausser I, Fässler R, Bruckner-Tuderman L: A hypomorphic mouse model of dystrophic epidermolysis bullosa reveals mechanisms of disease and response to fibroblast therapy. J Clin Invest 2008, 118:1669-1679
5. Ryynänen J, Sollberg S, Parente MG, Chung LC, Christiano AM, Uitto J: Type VII collagen gene expression by cultured human cells and in fetal skin: abundant mRNA and protein levels in epidermal keratinocytes. J Clin Invest 1992, 89:163-168
6. Goto M, Sawamura D, Ito K, Abe M, Nishie W, Sakai K, Shibaki A, Akiyama M, Shimizu H: Fibroblasts show more potential as target cells than keratinocytes in COL7A1 gene therapy of dystrophic epidermolysis bullosa. J Invest Dermatol 2006, 126:766-772
7. Ortiz-Urda S, Lin Q, Green CL, Keene DR, Marinkovich MP, Khavari PA: Injection of genetically engineered fibroblasts corrects regenerated human epidermolysis bullosa skin tissue. J Clin Invest 2003, 111:251-255
8. Woodley DT, Krueger GG, Jorgensen CM, Fairley JA, Atha T, Huang Y, Chan L, Keene DR, Chen M: Normal and gene-corrected dystrophic epidermolysis bullosa fibroblasts alone can produce type VII collagen at the basement membrane zone. J Invest Dermatol 2003, 121:1021-1028
9. Wong T, Gammon L, Liu L, Mellerio JE, Dopping-Hepenstal PJ, Pacy J, Elia G, Jeffery R, Leigh IM, Navsaria H, McGrath JA: Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa. J Invest Dermatol 2008, 128:2179-2189
10. + T-cell receptor transgenic T cells into keratin 14-ovalbumin transgenic mice. J Invest Dermatol 2004, 123:109-115
11. Denton CP, Zheng B, Shiwen X, Zhang Z, Bou-Gharios G, Eberspaecher H, Black CM, de Crombrugghe B: Activation of a fibroblastspecific enhancer of the proalpha2(I) collagen gene in tight-skin mice. Arthritis Rheum 2001, 44:712-722
12. Shimizu H, Ishiko A, Masunaga T, Kurihara Y, Sato M, Bruckner-Tuderman L, Nishikawa T: Most anchoring fibrils in human skin originate and terminate in the lamina densa. Lab Invest 1997, 76:753-763
13. Sawamura D, Mochitomi Y, Kanzaki T, Nakamura H, Shimizu H: Glycine substitution mutations by different amino acids at the same codon in COL7A1 cause different modes of dystrophic epidermolysis bullosa inheritance. Br J Dermatol 2006, 155:834-837
14. Shimizu H, McGrath JA, Christiano AM, Nishikawa T, Uitto J: Molecular basis of recessive dystrophic epidermolysis bullosa: genotype/phenotype correlation in a case of moderate clinical severity. J Invest Dermatol 1996, 106:119-124
15. Sawamura D, Goto M, Yasukawa K, Sato-Matsumura K, Nakamura H, Ito K, Nakamura H, Tomita Y, Shimizu H: Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa. J Hum Genet 2005, 50:543-546; erratum in J Hum Genet 2006, 51:839)
16. Uitto J, Chung-Honet LC, Christiano AM: Molecular biology and pathology of type VII collagen. Exp Dermatol 1992, 1:2-11
17. Woodley DT, Keene DR, Atha T, Huang Y, Ram R, Kasahara N, Chen M: Intradermal injection of lentiviral vectors corrects regenerated human dystrophic epidermolysis bullosa skin tissue in vivo. Mol Ther 2004, 10:318-326
18. Nishie W, Sawamura D, Goto M, Ito K, Shibaki A, McMillan JR, Sakai K, Nakamura H, Olasz E, Yancey KB, Akiyama M, Shimizu H: Humanization of autoantigen. Nat Med 2007, 13:378-383
19. Liu Z, Diaz LA, Troy JL, Taylor AF, Emery DJ, Fairley JA, Giudice GJ: 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
20. Engel J, Prockop DJ: The zipper-like folding of collagen triple helices and the effects of mutations that disrupt the zipper. Annu Rev Biophys Biophys Chem 1991, 20:137-152
21. Beck K, Boswell BA, Ridgway CC, Bächinger HP: Triple helix formation of procollagen type I can occur at the rough endoplasmic reticulum membrane. J Biol Chem 1996, 271:21566-21573
22. Söder S, Pöschl E: The NC1 domain of human collagen IV is necessary to initiate triple helix formation. Biochem Biophys Res Commun 2004, 325:276-280
23. Areida SK, Reinhardt DP, Muller PK, Fietzek PP, Kowitz J, Marinkovich MP, Notbohm H: Properties of the collagen type XVII ectodomain: evidence for N- to C-terminal triple helix folding. J Biol Chem 2001, 276:1594-1601
24. Hilal L, Rochat A, Duquesnoy P, Blanchet-Bardon C, Wechsler J, Martin N, Christiano AM, Barrandon Y, Uitto J, Goossens M, Hovnanian A: A homozygous insertion-deletion in the type VII collagen gene (COL7A1) in Hallopeau-Siemens dystrophic epidermolysis bullosa. Nat Genet 1993, 5:287-293
25. Hovnanian A, Rochat A, Bodemer C, Petit E, Rivers CA, Prost C, Fraitag S, Christiano AM, Uitto J, Lathrop M, Barrandon Y, de Prost Y: Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation. Am J Hum Genet 1997, 61:599-610
26. Lejeune F, Maquat LE: Mechanistic links between nonsense-mediated mRNA decay and pre-mRNA splicing in mammalian cells. Curr Opin Cell Biol 2005, 17:309-315
27. Mellerio JE, Dunnill MG, Allison W, Ashton GH, Christiano AM, Uitto J, Eady RA, McGrath JA: Recurrent mutations in the type VII collagen gene (COL7A1) in patients with recessive dystrophic epidermolysis bullosa. J Invest Dermatol 1997, 109:246-249
28. Pulkkinen L, Uitto J: Mutation analysis and molecular genetics of epidermolysis bullosa. Matrix Biol 1999, 18:29-42
29. Gardella R, Castiglia D, Posteraro P, Bernardini S, Zoppi N, Paradisi M, Tadini G, Barlati S, McGrath JA, Zambruno G, Colombi M: Genotype-phenotype correlation in Italian patients with dystrophic epidermolysis bullosa. J Invest Dermatol 2002, 119:1456-1462
30. Kern JS, Kohlhase J, Bruckner-Tuderman L, Has C: Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa. J Invest Dermatol 2006, 126:1006-1012
31. Varki R, Sadowski S, Uitto J, Pfendner E: Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes. J Med Genet 2007, 44:181-192