Skip to main content
SpringerLink
Log in

Evidence for a relationship between Ehlers–Danlos type VII C in humans and bovine dermatosparaxis

  • Article
  • Published:

From Nature Genetics

View current issue Submit your manuscript

Abstract

Ehlers–Danlos (ED) syndrome type VII is characterized by the accumulation of collagen precursors in connective tissues. ED VII A and B are caused by mutations in the genes of α1 and α2 collagen I which result in the disruption of the cleavage site of procollagen I N–proteinase. The existence of ED VII C in humans has been hypothesized on the basis of a disorder in cattle and sheep related to the absence of the enzyme. We now present evidence for the existence of this disease in humans, characterized by skin fragility, altered polymers seen as hieroglyphic pictures with electron microscopy, accumulation of p–N–α1 and p–N–α2 collagen type I in the dermis and absence of processing of the p–N–I polypeptides in fibroblast cultures.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Steinnman, B., Tuderman, L., Peltonen, L., Martin, G.R., Mc Kusik, V.A. & Prockop, D.J. J. biol. Chem. 255, 8887–8893 (1980).

    Google Scholar 

  2. Eyre, D.R., Shapiro, F.D. & Aldridge, J.F. J. biol. Chem. 260, 11322–11329 (1985).

    CAS  PubMed  Google Scholar 

  3. Cole, W.G., Chan, D., Chambers, D.W., Walker, I.D. & Bateman, J.F. J. biol. Chem. 261, 5496–5503 (1986).

    CAS  PubMed  Google Scholar 

  4. Wirtz, M.K., Glanville, R.W., Steinmann, B., Rao, V.H. & Hollister, D.W. J. biol. Chem. 262, 16376–16385 (1987).

    CAS  PubMed  Google Scholar 

  5. Beighton, P. et al. Am. J. med. Genet. 29, 581–594 (1988).

    Article  CAS  Google Scholar 

  6. Weil, D., D'Alessio, M., Ramirez, F. & Eyre, D.R. J. biol. Chem. 265, 16007–16011 (1990).

    CAS  Google Scholar 

  7. D'Alessio, M. et al. Am. J. hum. Genet. 49, 400–406 (1991).

    CAS  PubMed  PubMed Central  Google Scholar 

  8. Vasan, N.S. et al. Am. J. hum. Genet. 48, 305–317 (1991).

    CAS  PubMed  PubMed Central  Google Scholar 

  9. Lichtenstein, R. et al. Science 182, 298–300 (1973).

    Article  CAS  Google Scholar 

  10. Minor, R.R., Sippola-Thiele, M., McKeon, J., Berger, J. & Prockop, D.J. J. biol. Chem. 261, 10006–10014 (1986).

    CAS  PubMed  Google Scholar 

  11. Hanset, R. & Ansay, M. Ann. med. Vet. 7, 451–470 (1967).

    Google Scholar 

  12. Lenaers, A., Ansay, M., Nusgens, B.V. & Lapière, Ch.M. Eur. J. Biochem. 23, 533–543 (1971).

    Article  CAS  Google Scholar 

  13. Helle, O. & Ness, N. Acta Vet. Scand. 13, 443–445 (1972).

    CAS  PubMed  Google Scholar 

  14. Lapière, Ch.M., Nusgens, B., Piérard, G. & Hermanns, J.F. in Dymanics of Connective Tissue Macromolecules (eds Burleigh P.M. & Poole A.R.) 33–50 (North. Holland, 1975).

    Google Scholar 

  15. Smith, et al. J. Invest. Dermatol. 96–540 (1991).

  16. Bailey, A.J. & Lapière, Ch.M. Eur. J. Biochem. 34, 91–96 (1973).

    Article  CAS  Google Scholar 

  17. Dombrowski, K.E., Vogel, B.E. & Prockop, D.J. Biochemistry 28, 7107–7112 (1989).

    Article  CAS  Google Scholar 

  18. Juva, K. & Prockop, D.J. Anal. Biochem. 15, 77–83 (1966).

    Article  CAS  Google Scholar 

  19. Wiestner, P. et al. J. biol. Chem. 254, 7016–7023 (1979).

    CAS  PubMed  Google Scholar 

  20. Lapière, Ch.M., Lenaers, A. & Kohn, L.D. Proc. natn. Acad. Sci. U.S.A. 68, 3054–3058 (1971).

    Article  Google Scholar 

  21. Hojima, Y., McKenzie, J., van der Rest, M. & Prockop, D.J. J. biol. Chem. 269, 11336–11345 (1989).

    Google Scholar 

  22. Mauch, C. et al. Cell. Biol. 106, 205–211 (1988).

    Article  CAS  Google Scholar 

  23. O'Hara, P.J., Read, W.K., Romane, W.H. & Bridges, C.H. Lab. Invest. 23, 307–317 (1970).

    CAS  PubMed  Google Scholar 

  24. Holbrook, K.A. & Byers, P.H. J. Invest. Drmatol. 79, 78–168 (1982).

    Google Scholar 

  25. Holbrook, K.A., Byers, P.H., Counts, D.F. & Hegreberg, C.A. J. Invest. Dermatol. 74, 100–104 (1980).

    Article  CAS  Google Scholar 

  26. Piérard, G.E. et al. Coll. Rel. Res. 6, 481–492 (1986).

    Article  Google Scholar 

  27. Matsunaga, E., Shinkai, H., Nusgens, B.V. & Lapière, Ch. M. Coll. Rel. Res. 6, 467–479 (1986).

    Article  Google Scholar 

  28. Laemmli, U.K. Nature 227, 680–685 (1970).

    Article  CAS  Google Scholar 

  29. Nuytinck, L. et al. Am. J. med. Genet. (in the press).

  30. Smith, L.T. et al. Am. J. hum. Genet. (in the press).

Download references

Author information

Authors and Affiliations

  1. Laboratory of Experimental Dermatology, Tour de Patholgie, B23/3 B-4000 Sart–Tilman, Liègel, Belgium

    B. V. Nusgens & Ch. M. Lapière

  2. Center of Medical Genetics, Catholic University of Louvain, Tour Vesale 5220, B-1200, Brussels, Belgium

    Ch. Verellen-Dumoulin

  3. Dermatopathology, Tour de Patholgie, B23/3, B-4000, Sart–Tilman, Liègel, Belgium

    T. Hermanns-Lê & G.E. Piérard

  4. Department of Medical Genetics, University of Gant, University Hospital OK5, De Pintelaan, 185, B-9000, Gent, Belgium

    A. De Paepe & L. Nuytinck

Authors
  1. B. V. Nusgens
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Ch. Verellen-Dumoulin
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. T. Hermanns-Lê
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. A. De Paepe
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. L. Nuytinck
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. G.E. Piérard
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Ch. M. Lapière
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Nusgens, B., Verellen-Dumoulin, C., Hermanns-Lê, T. et al. Evidence for a relationship between Ehlers–Danlos type VII C in humans and bovine dermatosparaxis. Nat Genet 1, 214–217 (1992). https://doi.org/10.1038/ng0692-214

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1038/ng0692-214

  • Springer Nature America, Inc.

This article is cited by

Search

Navigation