The Copper-Transporting ATPases Defective in Menkes Disease and Wilson Disease

  • Diane W. Cox

Abstract

The identification of genes defective in Menkes disease and in Wilson disease has provided a major breakthrough in our understanding of copper transport. A membrane transport protein is a key factor in the control of intracellular copper concentration. In addition to the high degree of identity between the genes for Menkes and Wilson diseases, a high degree of homology is shown with other metal transporting ATPases, first in bacteria (1) and more recently in yeast (2). The bacterial genes are generally present on plasmids, and replicate in the presence of high metal concentration in the surrounding environment, as provided by pollution, fungicides, or any other situation in which the metal content of the environment is increased. A particularly high degree of homology is seen with those bacteria which are resistant to either copper or cadmium, because of their efficiency in transporting these metals from the cell. A high level of amino acid identity is seen in the functionally important regions.

Keywords

Wilson Disease Copper Transport Menkes Disease Cutis Laxa Urinary Copper Excretion 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. 1.
    Odermatt, A., Suter, H., Krapf, R., and Solioz, M. J. Biol. Chem. 268, 12775–12779 (1993).Google Scholar
  2. 2.
    Yuan, D. S., Stearman, R., Danois, A., Dunn, T., Beeler, T., and Klausner, R. D. Proc. Natl. Acad. Sci. USA 92, 2632–2636(1995).CrossRefGoogle Scholar
  3. 3.
    Danks, D. M. in The Molecular and Metabolic Basis of Inherited Disease (C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle, eds.) McGraw-Hill, New York (1995). 4125–4158.Google Scholar
  4. 4.
    Turner, Z. and Horn, N. Ann. Med. 28, (in press).Google Scholar
  5. 5.
    Sarkar, B., Lingertat-Walsh, K., and Clarke, J. T. R. J. Pediat. 123, 828–830 (1993).CrossRefGoogle Scholar
  6. 6.
    Vulpe, C., Levinson, B., Whitney, S., Packman, S., and Gitschier, J. Nature Genet. 3, 7–13 (1993).CrossRefGoogle Scholar
  7. 7.
    Chelly, J., Turner, Z., Tonnesen, T., Petterson, A., Ishikawa-Brush, Y, Tommerup, N., Horn, N., and Monaco, A. P. Nature Genet. 3, 14–19 (1993).CrossRefGoogle Scholar
  8. 8.
    Mercer, J. F. B., Livingstone, J., Hall, B., Paynter, J. A., Begy, C., Chandrasekharappa, S., Lockhart, P., Grimes, A., Bhave, M., Siemieniak, D., and Glover, T. W. Nature Genet. 3, 20–25 (1993).CrossRefGoogle Scholar
  9. 9.
    Odermatt, A., Suter, H., Krapf, R., and Solioz, M. (1993) Ann. N. Y. Acad. Sci. 484-486.Google Scholar
  10. 10.
    Levinson, B., Gitschier, J., Vulpe, C., Whitney, S., Yang, S., and Packman, S. Nature Genet. 3, 6–11 (1993).CrossRefGoogle Scholar
  11. 11.
    Das, S., Levinson, B., Whitney, S., Vulpe, C, Packman, S., and Gitschier, J. Am J Hum Genet 55, 883–889 (1994).Google Scholar
  12. 12.
    Levinson, B., Vulpe, C., Elder, B., Martin, J., Verley, F., Packman, S., and Gitschier, J. Nature Genet. 6, 369–378(1991).CrossRefGoogle Scholar
  13. 13.
    Martins da Costa, C, Baldwin, D., Portmann, B., Lolin, Y, Mowat, A. P., and Mieli-Vergani, G. (1992) Hepatology 15, 609–615.CrossRefGoogle Scholar
  14. 14.
    Sarkar, B. in Metal ions in biological systems (Sigel, H., ed) Marcel Dekker, Inc., New York pp. 233–281 (1981).Google Scholar
  15. 15.
    Hoogenraad, T. U., Van Haltum, J., and Van der Hamer, C. j. A.J Neurol Sci 77, 137–146 (1987).CrossRefGoogle Scholar
  16. 16.
    Frydman, M., Bonné-Tamir, B., Farrer, L. A., Conneally, P. M., Magazanik, A., Ashbel, A., and Goldwitch, Z. Proc. Natl. Acad. Sci. USA 82, 1819-1821.Google Scholar
  17. 17.
    Bowcock, A. M., Farrer, L. A., Cavalli-Sforza, L. L., Hebert, J. M., Kidd, K. K., Frydman, M., and Bonné-Tamir, B. (1987)Am J Hum Genet 41,27–35 (1985).Google Scholar
  18. 18.
    Farrer, L. A., Bowcock, A. M., Hebert, J. M., Bonné-Tamir, B., Sternlieb, I., Giagheddu, M., St.George-Hyslop, P., Frydman, M., Lössner, J., Demelia, L., Carcassi, C., Lee, R., Beker, R., Bale, A. E., Donis-Keller, H., Scheinberg, I. H., and Cavalli-Sforza, L. L. Neurology 41, 992–999 (1991).CrossRefGoogle Scholar
  19. 19.
    Houwen, R. H. J., Thomas, G. R., Roberts, E. A., and Cox, D. W. J Hepatol 17, 269–276 (1993).CrossRefGoogle Scholar
  20. 20.
    Bull, P. C. and Cox, D. W. Genomics 16, 593–598 (1993).CrossRefGoogle Scholar
  21. 21.
    Bull, P. C., Thomas, G. R., Rommens, J. M., Forbes, J. R., and Cox, D. W. Nature Genet. 5, 327–337 (1993).CrossRefGoogle Scholar
  22. 22.
    Tanzi, R. E., Petrushkin, K. E., Chernov, I., Pellequer, J. L., Wasco, W., Ross, B., Romano, D. M., Parano, E., Pavone, L., Brzustowicz, L. M., Devoto, M., Peppercorn, J., Bush, A. I., Sternlieb, I., Piratsu, M., Gusella, J. F. Evgrafov, O., Penchaszadeh, G. K., Honig, B., Edelman, I. S., Soares, M. B., Scheinberg, I. H, and Gil-Ham, T. C. Nature Genet 5, 344–350 (1995).CrossRefGoogle Scholar
  23. 23.
    Bull, P. C. and Cox, D. W. Trends Genet 10, 246–252 (1994).CrossRefGoogle Scholar
  24. 24.
    Petrukhin, K. E., Lutsenko, S., Chernov, I., Ross, B. M., Kaplan, J. H., and Gilliam, T. C. Hum Mol Genet 3, 1647–1656(1994).CrossRefGoogle Scholar
  25. 25.
    Thomas, G. R., Jensson, O., Gudmundsson, G., Thorsteinsson, L., and Cox, D. W. Human Genet 56, 1140–1146(1995).Google Scholar
  26. 26.
    Thomas, G. R., Roberts, E. A., Rosales, T. O., Moroz, S. P., Lambert, M. A., Wong, L. T. K., and Cox, D. W. Hum Mol Genet 2, 1401–1405 (1993).CrossRefGoogle Scholar
  27. 27.
    Thomas, G. R., Roberts, E. A., Walshe, J. M., and Cox, D. W. Am J Hum Genet 56, 1315–1319 (1995).Google Scholar
  28. 28.
    Cox, D. W. and Billingsley, G. D. in Genetics of Neuropsychiatrie Diseases. Wenner-Gren International Symposium (Wetterberg, L., ed), Macmillan, London pp. 167–177 (1989).Google Scholar
  29. 29.
    Thomas, G. R., Forbes, J. R., Roberts, E. A., Walshe, J. M., and Cox, D. W. Nature Genet. 9, 210–217 (1994).CrossRefGoogle Scholar
  30. 30.
    Figus, A., Angius, A., Loudianos, G., Bertini, C, Dessi, V., Loi, A., and Deiana, A. et al Am J Hum Genet 57, 1318–1324 (1996).Google Scholar
  31. 31.
    Wu, J., Forbes, J. R., Shiene Chen, H., and Cox, D. W. Nature Genet. 7, 541–545 (1994).CrossRefGoogle Scholar
  32. 32.
    Harris, Z. L., Takahashi, Y., Miyajima, H., Serizawa, M., MacGillivray, R. T., and Gitlin, J. D., Proc Natl Acad Sci (USA) 92, 2539–2543 (1989).CrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 1996

Authors and Affiliations

  • Diane W. Cox
    • 1
    • 2
    • 3
  1. 1.Research InstituteThe Hospital for Sick ChildrenTorontoCanada
  2. 2.Departments of Molecular and Medical Genetics, and PaediatricsUniversity of TorontoTorontoCanada
  3. 3.Department of Medical GeneticsUniversity of AlbertaEdmontonCanada

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