Targeted inactivation of the type VII collagen gene (Col7a1) in mice results in severe blistering phenotype: A model for recessive dystrophic epidermolysis bullosa

Journal of Cell Science

Volumn 112, Issue 21, 1999, Pages 3641-3648

  Heinonen, Seppo ^a   Männikkö, Minna ^a   Klement, John F ^a   Whitaker Menezes, Diana ^a   Murphy, George F ^a   Uitto, Jouni ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

Dermoepidermal junction; Epidermolysis bullosa; Gene therapy; Genetic skin disease; Type VII collagen

Indexed keywords

COLLAGEN FIBRIL; COLLAGEN TYPE 7; NEOMYCIN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ANTIBIOTIC RESISTANCE; ARTICLE; BLISTER; BULLOUS SKIN DISEASE; CONTROLLED STUDY; EPIDERMOLYSIS; EXON; GENE INACTIVATION; GENE MUTATION; GENE THERAPY; GENETIC RECOMBINATION; HETEROZYGOTE; IMMUNOHISTOCHEMISTRY; MOUSE; MYOTONIC DYSTROPHY; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEFICIENCY; RECESSIVE INHERITANCE; REVERSE TRANSCRIPTION; TRANSMISSION ELECTRON MICROSCOPY;

ANIMALS; BLISTER; BLOTTING, WESTERN; COLLAGEN; DISEASE MODELS, ANIMAL; EPIDERMOLYSIS BULLOSA DYSTROPHICA; GENE EXPRESSION REGULATION; MICE; MICE, KNOCKOUT; MICROSCOPY, ELECTRON; PHENOTYPE; POLYMERASE CHAIN REACTION; RNA; SKIN;

ANIMALIA;

EID: 0032717715     PISSN: 00219533     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (36)

1. Bruckner-Tuderman, L. (1991). Collagens of the dermo-epidermal junction: Role in bullous disorders. Eur. J. Dermatol. 1, 89-100.
2. Bruckner-Tuderman, L., Nilssen, O., Zimmerman, D. R., Dours-Zimmerman, M. T., Kalinke, D. U., Gedde-Dahl Jr, T. and Winberg, J. O. (1995). Immunohistochemical and mutation analyses demonstrate that procollagen VII is processed to collagen VII through removal of the NC-2 domain. J. Cell Biol. 2, 551-559.
3. Burgeson, R. E. (1993). Type VII collagen, anchoring fibrils, and epidermolysis bullosa. J. Invest. Dermatol. 101, 252-255.
4. Christiano, A. M., Greenspan, D. S., Lee, S. and Ditto, J. (1994a). Cloning of human type VII collagen. Complete primary sequence of the α1(VII) chain and identification of intragenic polymorphisms. J. Biol. Chem. 269, 20256-20262.
5. Christiano, A. M., Hoffman, G. G., Chung-Honet, L. C., Lee, S., Cheng, W., Uitto, J. and Greenspan, D. S. (1994b). Structural organization of the human type VII collagen gene (Col7a1), comprised of more exons than any previously characterized gene. Genomics 21, 169-179.
6. Christiano, A. M. and Uitto, J. (1996a). Molecular complexity of the cutaneous basement membrane zone. Revelations from the paradigms of epidermolysis bullosa. Exp. Dermatol. 5, 1-11.
7. Christiano, A. M. and Uitto, J. (1996b). Molecular diagnosis of inherited skin diseases: The paradigm of dystrophic epidermolysis bullosa. Advan. Dermatol. 11, 199-214.
8. Christiano, A. M., Amano, S., Eichenfield, L. F., Burgeson, R. E. and Uitto, J. (1997). Premature termination codon mutations in the type VII collagen gene (Col7a1) result in nonsense-mediated mRNA decay and absence of functional protein. J. Invest. Dermatol. 109, 390-394.
9. Christiano, A., Crollick, J., Pincus, S. and Uitto, J. (1999). Squamous cell carcinoma in a family with dominant dystrophic epidermolysis bullosa: A molecular genetic study. Exp. Dermatol. 8, 146-152.
10. Fine, J.-D., Bauer, E. A., McGuire, J., Moshell, A. (eds) (1999). Epidermolysis Bullosa. Clinical, Epidemiologic and Laboratory Advances and the Finding of the National Epidermolysis Bullosa Registry. The Johns Hopkins University Press. Baltimore, MD, 1999.
11. Hovnanian, A., Duquesnoy, P., Blanchet-Bardon, C., Knowlton, R. G., Amselem, S., Lathrop, M., Dubertret, L., Uitto, J. and Goossens, M. (1992). Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene. J. Clin. Invest. 90, 1032-1036.
12. Hovnanian, A., Rochat, A., Bodemer, C., Petit, E., Rivers, C. A., Prost, C., Fraitag, S., Christiano, A. M., Uitto, J., Lathrop, M., Barrandon, Y. and de Prost, Y. (1997). 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. 61, 599-610.
13. Järvikallio, A., Pulkkinen, L. and Uitto, J. (1997). Molecular basis of dystrophic epidermolysis bullosa: Mutations in the type VII collagen gene (Col7a1). Hum. Mut. 10, 338-347.
14. Karnovsky, M. J. (1965). A formaldehyde-glutaraldehyde fixative of high osmolarity for use in electron microscopy. J. Cell Biol. 27, 137A.
15. Keene, D. R., Sakai, L. Y., Lunstrum, G. P., Morris, N. P. and Burgeson, R. E. (1987). Type VII collagen forms an extended network of anchoring fibrils. J. Cell Biol. 104, 611-621.
16. Kivirikko, K. I. (1993). Collagens and their abnormalities in a wide spectrum of diseases. Ann. Med. 25, 113-126.
17. Kivirikko, S., Li, K., Christiano, A. M. and Uitto, J. (1996). Cloning of mouse type VII collagen reveals evolutionary conservation of functional protein domains and genomic organization. J. Invest. Dermatol. 106, 1300-1306.
18. Koch, P. J., Mahoney, M. G., Ishikawa, H., Pulkkinen, L., Uitto, J., Shultz, L., Murphy, G. F., Whitaker-Menezes, D. and Stanley, D. (1997). Targeted disruption of the pemphigus vulgaris antigen (Desmoglein 3) gene in mice causes loss of keratinocyte cell adhesion with a phenotype similar to pemphigus vulgaris. J. Cell Biol. 137, 1091-1102.
19. König, A., Lauharanta, J. and Bruckner-Tuderman, L. (1992). Keratinocyles and fibroblasts from a patient with mutilating dystrophic epidermolysis bullosa synthesize drastically reduced amounts of collagen VII: Lack of effect of transforming growth factor-β. J. Invest. Dermatol. 99, 808-812.
20. Köntgen, F. and Stewart, C. L. (1993). Simple screening procedure to detect gene targeting events in embryonic stem cells. Meth. Enzymol. 225, 878-889.
21. Maquat, W. H. I. (1995). When cells stop making sense: Effect of nonsense codons on RNA metabolism in vertebrate cells. RNA 1, 453-465.
22. Parente, M. G., Chung, L. C., Ryynänen, J., Woodley, D. T., Wynn, K. C., Bauer, E. A., Mattel, M.-G., Chu, M.-L. and Uitto, J. (1991). Human type VII collagen: cDNA cloning and chromosomal mapping of the gene. Proc. Nat. Acad. Sci. USA 88, 6931-6935.
23. Pulkkinen, L. and Uitto, J. (1999). Mutation analysis and molecular genetics of epidermolysis bullosa. Matrix Biol. 18, 29-42.
24. Ryynänen, M., Knowlton, R. G., Parente, M. G., Chung, L. C., Chu, M.-L. and Uitto, J. (1991). Human type VII collagen: Genetic linkage of the gene (Col7a1) on chromosome 3 to dominant dystrophic epidermolysis bullosa. Am. J. Human Genet. 49, 797-803.
25. Ryynänen, J., Sollberg, S., Parente, M. G., Chung, L. C., Christiano, A. M. and Uitto, J. (1992). Type VII collagen gene expression by cultured human cells and in fetal skin. Abundant mRNA and protein levels in epidermal keratinocytes. J. Clin. Invest. 89, 163-168.
26. Sakai, L. Y., Keene, D. R., Morris, N. P. and Burgeson, R. E. (1986). Type VII collagen is a major structural component of anchoring fibrils. J. Cell Biol. 103, 1577-1586.
27. Sambrook, J., Fritsch, E. F. and Maniatis, T. (1989). Molecular Cloning: A Laboratory Manual. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
28. Shimizu, H., McGrath, J. A., Christiano, A. M., Nishikawa T. and Uitto, J. (1996). Molecular basis of recessive dystrophic epidermolysis bullosa: Genotype/phenotype correlation in a case of moderate clinical severity. J. Invest. Dermatol. 106, 119-124.
29. Stewart, C. L. (1993). Production of chimeras between embryonic stem cells and embryos. Meth. Enzymol. 225, 823-884.
30. Sundberg, J. (1994). Handbook of Mouse Mutations with Skin and Hair Abnormalities. CRC Press, Ann Arbor, MI.
31. Tidman, M. J. and Eady, R. A. J. (1985). Evaluation of anchoring fibrils and other components of the dermal-epidermal junction in dystrophic epidermolysis bullosa by quantitative ultrastructural technique. J. Invest. Dermatol. 84, 374-377.
32. Tybulecwicz, V. L. J., Crawford, C. E., Jackson, P. K., Bronson, R. T. and Mulligan, R. C. (1991). Neonatal lethality and lymphopenia in mice with a homozygous disruption of the c-abl proto-oncogene. Cell 65, 1153-1163.
33. Uitto, J. and Christiano, A. M. (1992). Molecular genetics of the cutaneous basement membrane zone. Perspectives on epidermolysis bullosa and other blistering skin diseases. J. Clin. Invest. 90, 687-692.
34. Uitto, J. and Christiane, A. M. (1994). Molecular basis for the dystrophic forms of epidermolysis bullosa: mutations in the type VII collagen gene. Arch. Dermatol. Res. 287, 16-22.
35. Uitto, J., Hovnanian, A. and Christiano, A. M. (1995.) Premature termination codon mutations in the type VII collagen gene (Col7a1) underlie severe recessive dystrophic epidermolysis bullosa. Proc. Assoc. Am. Phys. 107, 245-252.
36. Uitto, J., Pulkkinen, L. and McLean, W. H. I. (1997). Epidermolysis bullosa: a spectrum of clinical phenotypes explained by molecular heterogeneity. Mol. Med. Today 3, 457-465.