Defective in vivo expression and apparently normal in vitro expression of a newly identified 105-kDa lower lamina lucida protein in dystrophic epidermolysis bullosa
dc.contributor.author | Chan, L. S. | en_US |
dc.contributor.author | Fine, J. -D. | en_US |
dc.contributor.author | Hammerberg, Craig | en_US |
dc.contributor.author | Bauer, E. A. | en_US |
dc.contributor.author | Cooper, K. D. | en_US |
dc.date.accessioned | 2010-06-01T22:14:29Z | |
dc.date.available | 2010-06-01T22:14:29Z | |
dc.date.issued | 1995-05 | en_US |
dc.identifier.citation | CHAN, L. S.; FINE, J.-D.; HAMMERBERG, C.; BAUER, E. A.; COOPER, K. D. (1995). "Defective in vivo expression and apparently normal in vitro expression of a newly identified 105-kDa lower lamina lucida protein in dystrophic epidermolysis bullosa." British Journal of Dermatology 132(5): 725-729. <http://hdl.handle.net/2027.42/75257> | en_US |
dc.identifier.issn | 0007-0963 | en_US |
dc.identifier.issn | 1365-2133 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/75257 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=7772477&dopt=citation | en_US |
dc.description.abstract | We have previously identified a novel 105-kDa lower lamina lucida protein detected by the autoantibodies from a group of patients who developed a unique immune-mediated subepidermal bullous dermatosis. We sought to determine if this novel basement membrane zone (BMZ) protein is normally expressed in the skin of patients with various subsets of epidermolysis bullosa (EB). Indirect immunofluorescence microscopy performed on non-lesional skin sections from patients with three major EB subsets revealed absence or significantly reduced expression of this novel BMZ protein in 20 out of 23 skin sections from patients with generalized dominant and recessive dystrophic EB. However, immunoblot analyses with the autoantibodies on Western-blotted proteins revealed that a comigrating 105-kDa protein is present in both cytosol extracts ( n =6) and conditioned media ( n =3) of cultured dermal fibroblasts derived from patients with dystrophic EB, as well as those cultured from two healthy individuals. Although the reason for such disparate findings is not known, the defective in vivo expression of this novel 105-kDa protein in dystrophic EB is presumably not due to a failure of fibroblasts to synthesize or secrete the protein. It is possible, however, that the 105-kDa protein may be unable to incorporate into the BMZ because it is produced in a dysfunctional form, or its BMZ binding site is missing. It is also possible that other structural alterations in skin BMZ, which occur in dystrophic EB, result in masking of the antigenic binding by the autoantibody when intact BMZ is probed. In any case, the reduced in vivo expression of the 105-kDa protein represents additional evidence for a defect in BMZ composition in dystrophic EB which extends to a number of molecular components. | en_US |
dc.format.extent | 2578833 bytes | |
dc.format.extent | 3109 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.publisher | Blackwell Publishing Ltd | en_US |
dc.rights | 1995 British Association of Dermatologists | en_US |
dc.title | Defective in vivo expression and apparently normal in vitro expression of a newly identified 105-kDa lower lamina lucida protein in dystrophic epidermolysis bullosa | en_US |
dc.type | Article | en_US |
dc.subject.hlbsecondlevel | Dermatology | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | * Departments of Dermatology. University of Michigan School of Medicine. Ann Arbor. ML U.S.A. | en_US |
dc.contributor.affiliationother | † Northwestern University Medical School, Chicago, IL. U.S.A. | en_US |
dc.contributor.affiliationother | † University of North Carolina School of Medicine. Chapel Hill. NC. U.S.A. | en_US |
dc.contributor.affiliationother | § Stanford University School of Medicine. Stanford. CA. U.S.A. | en_US |
dc.identifier.pmid | 7772477 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/75257/1/j.1365-2133.1995.tb00717.x.pdf | |
dc.identifier.doi | 10.1111/j.1365-2133.1995.tb00717.x | en_US |
dc.identifier.source | British Journal of Dermatology | en_US |
dc.identifier.citedreference | Fine, J-D, Bauer, EA, Briggaman, RA et al Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa: a consensus report by the subcommittee on diagnosis and classification of the National Epidermolysis Bullosa Registry. J Am Acad Dermatol 1991; 24: 119 – 35. | en_US |
dc.identifier.citedreference | Hintner, H. Stingl, G., Schuler, G et al. Immunofluorescence mapping of antigenic determinants within the dermal-epidermal junction in mechanobullous diseases. J Invest Dermatol 1981; 76: 113 – 18. | en_US |
dc.identifier.citedreference | Coulombe, PA., Hutton, ME., Letai, A et al. Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses. Cell 1991; 66: 1301 – 11. | en_US |
dc.identifier.citedreference | Bonifas, JM, Rothman, A-L, Epstein, EH. Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities. Science 1991; 254: 1202 – 5. | en_US |
dc.identifier.citedreference | Fine, J-D, Horiguchi, Y, Couchman, JR. 19-DEJ-1, a hemidesmosomeanchoring filament complex-associated monoclonal antibody: definition of a new skin basement membrane antigenic defect in junctional and dystrophic epidermolysis bullosa. Arch Dermatol 1989; 125: 520 – 3. | en_US |
dc.identifier.citedreference | Fine, J-D. 19-DEJ-l, a monoclonal antibody to the hemidesmosome-anchoring filament complex, is the only reliable immunohistochemical pmbe for all major forms of junctional epidermolysis bullosa. Arch Dermatol 1990; 126: 1187 – 90. | en_US |
dc.identifier.citedreference | Heagerty, AHM., Kennedy, AR., Eady, RAJ et al. GB3 monoclonal antibody for diagnosis of junctional epidermolysis bullosa. Lancet 1986; 1: 860. | en_US |
dc.identifier.citedreference | Heagerty, AHM., Kennedy, AR., Leigh, IM et al. Identification of an epidermal basement membrane defect in recessive forms of dystrophic epidermolysis bullosa by LH7:2 monoclonal antibody: use in diagnosis. Br J Dermatol 1986; 115: 125 – 31. | en_US |
dc.identifier.citedreference | Leigh, IM., Eady, RAJ., Heagerty, AHM et al. Type VII collagen is a normal component of epidermal basement membrane, which shows altered expression in recessive dystrophic epidermolysis bullosa. J Invest Dermatol 1988; 90: 639 – 42. | en_US |
dc.identifier.citedreference | Rusenko, KW, Gammon, WR, Fine, J-D, Briggaman, RA. The carboxyl-terminal domain of type VII collagen is present at the basement membrane in recessive dystrophic epidermolysis bullosa. J Invest Dermatol 1989; 92: 623 – 7. | en_US |
dc.identifier.citedreference | Parente, MG., Chung, LC., RyynÄnen, J et al. Human type VII collagen: cDNA cloning and chromosomal mapping of the gene. Proc Natl Acad Sci USA 1991; 88: 6931 – 5. | en_US |
dc.identifier.citedreference | RyynÄnen, M., RyynÄnen, J., Sollberg, S et al. Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils. J Clin Invest 1992; 89: 794 – 80. | en_US |
dc.identifier.citedreference | RyynÄnen, M., Knowlton, RG., Parente, MG et al. Human type VII collagen: genetic linkage of the gene (COL7A1) on chromosome 3 to dominant dystrophic epidermolysis bullosa. Am J Hum Genet 1991; 49: 797 – 803. | en_US |
dc.identifier.citedreference | Sakai, LY, Keene, DR, Morris, NP, Burgeson, RE. Type VII collagen is a major structural component of anchoring fibrils. J Cell Biol 1986; 103: 1577 – 86. | en_US |
dc.identifier.citedreference | Fine, J-D, Breathnach, SM, Hintner, H, Katz, SI. KF-1 monoclonal antibody defines a specific basement membrane antigen defect in dystrophic forms of epidermolysis bullosa. J Invest Dermatol 1984; 82: 35 – 8. | en_US |
dc.identifier.citedreference | Goldsmith, LA, Briggaman, RA. Monoclonal antibodies to anchoring fibrils for the diagnosis of epidermolysis bullosa. J Invest Dermatol 1983; 81: 464 – 6. | en_US |
dc.identifier.citedreference | Fine, J-D, Couchman, JR. Chondroitin 6-sulfate proteoglycan but not heparan sulfate proteoglycan is abnormally expressed in skin basement membrane from patients with dominant and recessive dystrophic epidermolysis bullosa. J Invest Dermatol 1989; 92: 611 – 16. | en_US |
dc.identifier.citedreference | Chan, LS., Fine, J-D, Briggaman, RA et al Identification and partial characterization of a novel 105-kilodalton lower lamina lucida autoantigen associated with a novel immune-mediated subepidermal blistering disease. J Invest Dermatol 1993; 101: 262 – 7. | en_US |
dc.identifier.citedreference | Chan, LS, Cooper, KD. A novel immune-mediated subepidermal bullous dermatosis characterized by IgG autoantibodies to a lower lamina lucida component. Arch Dermatol 1994; 130: 343 – 7. | en_US |
dc.identifier.citedreference | Cotell, SL., Lapiere, JC., Chen, JD et al. A novel 105-kDa basement membrane autoantigen: association with bullous pemphigold. J Invest Dermatol 1994; 103: 78 – 83. | en_US |
dc.identifier.citedreference | Chan, LS., Lapiere, J-C, Marinkovich, MP et al The newly identified 105-kD lower lamina lucida autoantigen is an acidic protein distinct from the 105-kD Γ2 chains of laminin-5. J Invest Dermatol ( in press ). | en_US |
dc.identifier.citedreference | Chan, LS., Hammerberg, C., Kang, K et al. Human dermal fibroblast interleukin-1 receptor antagonist (IL-1 ra) and interleukin-1 Β (IL-1 Β) mRNA and protein are co-stimulated by phorbol ester: implication for a homeostatic mechanism. J Invest Dermatol 1992; 99: 315 – 22. | en_US |
dc.identifier.citedreference | Domloge-Hultsch, N., Gammon, WR., Briggaman, RA et al. 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 1992; 90: 1628 – 33. | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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