Mutations in the 180–kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa

Nature Genetics

Volumn 11, Issue 1, 1995, Pages 83-86

  McGrath, John A ^a   Gatalica, Biljana ^a   Christiano, Angela M ^a   Si, Kehua ^a   Owaribe, Katsushi ^b   McMillan, James R ^c   Eady, Robin A J ^c   Uitto, Jouni ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b Nagoya University   (Japan)

^c ST THOMAS HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN; COLLAGEN TYPE 17; DNA; INTEGRIN; LAMININ; MONOCLONAL ANTIBODY; RNA; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BULLOUS SKIN DISEASE; CASE REPORT; CONTROLLED STUDY; DERMOEPIDERMAL JUNCTION; DNA SEQUENCE; EPIDERMOLYSIS BULLOSA; GENE MUTATION; HEMIDESMOSOME; HUMAN; HUMAN TISSUE; IMMUNOFLUORESCENCE MICROSCOPY; MALE; PRIORITY JOURNAL;

ADOLESCENT; ANTIGENS, SURFACE; ATROPHY; BASE SEQUENCE; CASE REPORT; DESMOSOMES; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; EPIDERMOLYSIS BULLOSA, JUNCTIONAL; HETEROZYGOTE; HUMAN; INTEGRIN ALPHA6BETA4; INTEGRINS; KERATINOCYTES; LAMININ; MALE; MICROSCOPY, FLUORESCENCE; MOLECULAR SEQUENCE DATA; PHENOTYPE; POINT MUTATION; SUPPORT, NON-U.S. GOV'T; SUPPORT, U.S. GOV'T, P.H.S.;

EID: 0029121987     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng0995-83     Document Type: Letter

References (29)

1. Fine, J.-D. et al. Revised clinical and laboratory criteria for subtypes of epidermolysis bullosa. A consensus report by the Subcomittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry. J. Am. Acad. Dermatol. 24, 119-135 (1991).
2. Tidman, M. J. & Eady, R. A. J. Hemidesmosome heterogeneity in junctional epidermolysis bullosa revealed by morphometric analysis. J. invest. Dermatol. 86, 51-56 (1986).
3. Pulkkinen, L. et al. Mutations in the 2 chain gene (LAMC2) of kalinin/laminin-5 in the junctional forms of epidermolysis bullosa. Nature Genet. 6, 293-298 (1994).
4. Aberdam, D. et al. Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the 2 subunit of nicein/kalinin (laminin-5). Nature Genet. 6, 299-304 (1994).
5. Pulkkinen, L. et al. A homozygous nonsense mutation in the 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa. Genomics 24, 357-360 (1994).
6. Kivirikko, S. et al. A homozygous nonsense mutation in the mutation in the 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa. Hum. molec. Genet. 4, 959-962 (1995).
7. Vidal, F. et al. Mutations in the gene for the integrin 4 subunit are associated with junctional epidermolysis bullosa with pyloric atresia. Nature Genet. 10, 229-234 (1995).
8. Li, K., Tamai, K., Tan, E. M. L. & Uitto, J. Cloning of type XVII collagen. Complementary and genomic sequences of mouse 180-kDa bullous pemphigoid antigen (BPAG2) predict an interrupted collagenous domain, a transmembranous segment, and unusual features in the 5' end of the gene and the 3'-untranslated region of the mRNA. J. biol. Chem. 268, 8825-8834 (1993).
9. Hintner, H. & Wolff, K. Generalized atrophic benign epidermolysis bullosa. Arch. Dermatol. 118, 375 (1982).
10. Nishizawa, Y., Uematsu, J. & Owaribe, K. HD4, a 180 kDa bullous pemphigoid antigen, is a major transmembrane glycoprotein of the hemidesmosome. J. Biochem. (Tokyo) 113, 493-501 (1993).
11. Owaribe, K., Nishizawa, Y. & Franke, W. W. Isolation and characterization of hemidesmosomes from bovine corneal epithelial cells. Expl. Cell Res. 192, 622-630 (1991).
12. Verrando, P. et al. Monoclonal antibody GB3 defines a widespread defect of several basement membranes and a keratinocyte dysfunction in patients with lethal junctional epidermolysis bullosa. Lab. Invest. 64, 85-92 (1991).
13. Giudice, G. J., Emery, D. J. & Diaz, L. A. Cloning and primary structural analysis of the bullous pemphigoid autoantigen BP180. J. Invest. Dermatol. 99, 243-250 (1992).
14. Li, K. et al. Genomic organization of collagenous domains and chromosomal assignment of human 180 kD bullous pemphigoid antigen (BPAG2), a novel collagen of stratified squamous epithelium. J. biol. Chem. 266, 24064-24069 (1991).
15. Keen, J., Lesler, D., Inglehorn, C., Curtis, A. & Bhattacharya, S. Rapid detection of single base mismatches as heteroduplexes on hydrolink gels. Trends Genet. 7, 5 (1991).
16. Urlaub, G., Mitchell, P. J., Ciudad, C. J. & Chasin, L. A. Nonsense mutations in the dihydrofolate reductase gene affect RNA processing. Molec. cell. Biol. 9, 2868-2880 (1989).
17. Cheng, J., Fogel-Petrovic, M. & Maquat, L. E. Translation to near the distal end of the penultimate exon is required for normal levels of spliced triosephosphate isomerase mRNA. Molec. cell. Biol. 10, 5215-5225 (1990).
18. Uitto, J. & Christiano, A. M. Molecular genetics of the cutaneous basement membrane zone. Perspectives on epidermolysis bullosa and other blistering skin diseases. J. clin. Invest. 90, 687-692 (1992).
19. Ishiko, A., Shimizu, H., Ebihara, T., Hashimoto, T. & Nishikawa, T. Human autoantibodies against the 230-kD bullous pemphigoid antigen (BPAG1) bind only to the intracellular domain of the hemidesmosome, whereas those against the 180-kD bullous pemphigoid antigen (BPAG2) bind along the plasma membrane of the hemidesmosome in normal human and swine skin. J. clin. Invest 91, 1608-1615 (1993).
20. Burgeson, R. E. et al. A new nomenclature for laminins. Matrix Biol. 14, 209-211 (1994).
21. McGrath, J. A. et al. Altered laminin 5 expression due to mutations in the gene encoding the 3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa. J. invest. Dermatol. 104, 467-474 (1995).
22. Vailly, J. et al. Identification of a homozygous one-basepair deletion in exon 14 of the LAMB83 gene in a patient with Herlitz junctional epidermolysis bullosa and prenatal diagnosis in a family at risk for recurrence. J. invest Dermatol. 104, 462-466 (1995).
23. Jonkman, M. F. et al. 180-kD bullous pemphigoid antigen (BP180) is deficient in generalized atrophic benign epidermolysis bullosa. J. clin. Invest. 95, 1345-1352 (1995).
24. Sambrook, J., Fritsch, E. F. & Maniatis, T. Molecular cloning. a laboratory manual. (Cold Spring Harbor Laboratory Press, Cold Spring Harbor, New York, 1989).
25. Sanger, F., Nicklen, S. & Coulson, A. R. DNA sequencing with chain-termination inhibitors. Proc. natn. Acad. Sci. U. S. A. 74, 5463-5467 (1977).
26. Sonnenberg, A. et al. A complex of platelet glycoproteins la and Ha identified by a rat monoclonal antibody. J. biol. Chem. 262, 10376-10383 (1987).
27. Jonkman, M. F., deJong, M. J. C. M., Heeres, K. & Sonnenberg, A. Expression of integrin a6 54 in junctional epidermolysis bullosa. J. invest Dermatol. 99, 489-496 (1992).
28. Purkis, P. E. et al. Antibody markers of basal cells in complex epithelia. J. Cell Sci. 97, 39-50 (1990).
29. Leigh, I. M., Purkis, P. E. & Bruckner-Tuderman, L. LH7: 2 monoclonal antibody detects type VH collagen in the sub-lamina densa zone of ectodermally-derived epithelia including skin. Epithelia 1, 17-29 (1987).