Abstract
Copper transporting P-type ATPases, designated ATP7A and ATP7B, play an essential role in mammalian copper balance. Impaired intestinal transport of copper, resulting from mutations in the ATP7A gene, lead to Menkes disease in humans. Defects in a similar gene, the copper transporting ATPase ATP7B, result in Wilson disease. This ATP7B transporter has two functions: transport of copper into the plasma protein ceruloplasmin, and elimination of copper through the bile. Variants of ATP7B can be functionally assayed to identify defects in each of these functions. Tissue expression studies of the copper ATPases and their copper chaperone ATOX1 indicate that there is not complete overlap in expression. Other chaperones may be important for the transport of copper into ATP7A and ATP7B.
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REFERENCES
Bremner, I. (1998). Am. J. Clin. Nutr. 67, 1069S–1073S.
Bull, P. C., Thomas, G. R. Rommens, J. M., Forbes, J. R., and Cox, D. W. (1993). Nat. Genet. 5, 327–337. (Erratum in Nat. Genet. 1994 6:214)
Calvo, P. A., Frank, D.W., Bieler, B. M., Berson, J. F., and Marks, M. S. (1999). J. Biol. Chem. 274, 12780–12789.
Chelly, J., Tumer, Z., Tonnesen, T., Petterson, A., Ishikawa-Brush, Y., Tommerup, N., Horn, N., and Monaco, A. P. (1993). Nat. Genet. 3, 14–19.
Coronado, V., Nanji, M., and Cox, D. W. (2001). Mamm. Genome. 12, 793–795.
Cox, D. W. and Roberts, E. A. (1998). In Sleisenger and Fordtran's Gastrointestinal and Liver Disease. (Feldman, M., Scharschmidt, B.F., and Sleisenger, M. H., eds.) Saunders, Philadelphia, pp. 1104–1111.
Dancis, A., Yuan, D. S., Haile, D., Askwith, C., Eide, D., Moehle, C., Kaplan, J., and Klausner, R. D. (1994). Cell 76, 393–402.
Danks, D. M. (1995). In The Molecular and Metabolic Basis of Inherited Disease. (Scriver, C. R., Beaudet, A. L., Sly, W. S., and Valle, D., eds.), McGraw-Hill, New York, pp. 4125–4158.
Elsenhans, B., Kolb, K., Schumann, K., and Forth, W. (1992). IARC Sci. Publ. 225–230.
Forbes, J. R., and Cox, D.W. (1998). Am. J. Hum. Genet. 63, 1663–1674.
Forbes, J. R., and Cox, D. W. (2000). Hum. Mol. Genet. 9, 1927–1935.
Francis, M. J., Jones, E. E., Levy, E. R., Ponnambalam, S., Chelly, J., and Monaco, A. P. (1998). Hum. Mol. Genet. 7, 1245–1252.
Fu, D., Beeler, T. J., and Dunn, T. M. (1995). Yeast 11, 283–292.
Grimes, A., Hearn, C. J., Lockhart, P., Newgreen, D. F., and Mercer, J. F. (1997). Hum. Mol. Genet. 6, 1037–1042. 338 Cox and Moore
Hamza, I., Faisst, A., Prohaska, J., Chen, J., Gruss, P., and Gitlin, J. D. (2001). Proc. Natl.Acad. Sci. U.S.A. 98, 6848–6852.
Hamza, I., Schaefer, M., Klomp, L. W., and Gitlin, J. D. (1999). Proc. Natl. Acad. Sci. U.S.A. 96, 13363–13338.
Harris, Z. L., Takahashi, Y., Miyajima, H., Serzawa, M., MacGillivray, R. T., and Gitlin, J. D. (1995). Proc. Natl. Acad. Sci. U.S.A. 92, 2539–2543.
Horn, N. (1981). Prenat. Diagn. 1, 107–120.
Hung, I. H., Suzuki, M., Yamaguchi, Y., Yuan, D. S., Klausner, R. D., and Gitlin, J. D. (1997). J. Biol. Chem. 272, 21461–21466.
Kaler, S. G., Gallo, L. K., Proud, V. K., Percy, A. K., Mark, Y., Segal, N. A., Goldstein, D. S., Holmes, C. S., and Gahl, W. A. (1994). Nat. Genet. 8, 195–202.
Kodama, H., Okabe, I., Kihara, A., Mori, Y., and Okaniwa, M. (1992). J. Inherit. Metab. Dis. 15, 157–158.
Larin, D., Mekios, C., Das, K., Ross, B., Yang, A. S., and Gilliam, T. C. (1999). J. Biol. Chem. 274, 28497–28504.
Levinson, B., Vulpe, C., Elder, B., Martin, J., Verley, F., Packman, S., and Gitschier, J. (1994). Nat. Genet. 6, 369–373.
Lin, S. J., Pufahl, R. A., Dancis, A., O'Halloran, T. V., and Culotta, V. C. (1997). J. Biol. Chem. 272, 9215–9220.
Linder, M. C., Wooten, L., Cerveza, P., Cotton, S., Shulze, R., and Lomeli, N. (1998). Am. J. Clin. Nutr. 67, 965S–971S.
Masson, W., Hughes, H., Papworth, D., Boyd, Y., and Horn, N. (1997). J. Med. Genet. 34, 729–732.
Mercer, J. F. B., Grimes, A., Ambrosini, L., Lockhart, P., Paynter, J. A., Dierick, H., and Glover, T. (1994). Nat. Genet. 6, 374–378.
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. (1993). Nat. Genet. 3, 20–25.
Moore, S. D., and Cox, D. W. (2002). Nephron. 92, 629–634.
Moore, S. D., Helmle, K. E., Prat, L. M., and Cox, D. W. (in press). Mamm. Genome.
Muramatsu, Y., Yamada, T., Moralejo, D. H., Suzuki, Y., and Matsumoto, K. (1998). Res. Commun. Mol. Pathol. Pharmacol. 101, 225–231.
Murata, Y., Kodama, H., Abe, T., Ishida, N., Nishimura, M., Levinson, B., Gitschier, J., and Packman, S. (1997). Pediatr. Res. 42, 436–442.
Murata, Y., Yamakawa, E., Iizuka, T., Kodama, H., Abe, T., Seki, Y., and Kodama, M. (1995). Biochem. Biophys. Res. Commun. 209, 349–355.
Nomiyama, K., Nomiyama, H., Kameda, N., Tsuji, A., and Sakurai, H. (1999). Toxicology 132, 201–214.
Odermatt, A., Suter, H., Krapf, R., and Solioz, M. (1993). J. Biol. Chem. 268, 12775–12779.
Payne, A. S., Kelly, E. J., and Gitlin, J. D. (1998). Proc. Natl. Acad. Sci. U.S.A. 95, 10854–10859.
Petris, M. J., Camakaris, J., Greenough, M., LaFontaine, S., and Mercer, J. F. B. (1998). Hum. Mol. Genet. 7, 2063-2071.
Petris, M. J., Mercer, J. F., Culvenor, J. G., Lockhart, P., Gleeson, P. A., and Camakaris, J. (1996). EMBO J. 15, 6084–6095.
Pufahl, R. A., Singer, C. P., Peariso, K. L., Lin, S. J., Schmidt, P. J., Fahrni, C. J., Culotta, V. C., Penner-Hahn, J. E., and O'Halloran, T. V. (1997). Science 278, 853–856.
Reed, V., and Boyd, Y. (1997). Hum. Mol. Genet. 6, 417–423.
Roelofsen, H., Wolters, H., Van Luyn, M. J. A., Miura, N., Kuipers, F., and Vonk, R. J. (2000). Gastroenterology 119, 782–793.
Rosenzweig, A. C. (2001). Acc. Chem. Res. 34, 119–128.
Sarkar, B., Lingertat-Walsh, K., and Clarke, J. T. R. (1993). J. Pediatr. 123, 828–830.
Schaefer, M., Hopkins, R. G., Failla, M. L., and Gitlin, J. D. (1999a). Am. J. Physiol. 276, G639–G646.
Schaefer, M., Roelofsen, H., Wolters, H., Hofmann, W. J., Muller, M., Kuipers, F., Stremmel, W., and Vonk, R. J. (1999b). Gastroenterology 117, 1380–1385.
Shiraishi, N., Taguchi, T., and Kinebuchi, H. (1991). Biol. Neonate 60, 52–61.
Solioz, M., Odermatt, A., and Krapf, R. (1994). FEBS Lett. 346, 44–47.
Stearman, R., Yuan, D. S., Yamaguchi-Iwai, Y., Klausner, R. D., and Dancis, A. (1996). Science 271, 1552–1557.
Tanzi, R. E., Petrukhin, 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., Pirastu, M., Gusella, J. F., Evgrafov, O., Penchaszdeh, G. K., Honig, B., Edelman, I. S., Soares, M. B., Scheinberg, I. H., and Gilliam, T. C. (1993). Nat. Genet. 5, 344–350.
Theophilos, M. B., Cox, D. W., and Mercer, J. F. (1996). Hum. Mol. Genet. 5, 1619–1624.
Tumer, Z., and Horn, N. (1998). J. Inherit. Metab. Dis. 21, 604–612.
Tumer, Z., Moller, L. B., and Horn, N. (1999). Acta Neurol. Scand. 448, 83–95.
Twedt, D. C., Sternlieb, I., and Gibertson, S. R. (1979). J. Am. Vet. Med. Assoc. 175, 269–273.
van de Sluis, B.J., Breen, M., Nanji, M., van Wolferen, M., De Jong, P., Binns, M.M., Pearson, P.L., Kuipers, J., Rothuizen, J., Cox, D.W., Wijmenga, C., and Van Oost, B.A. (1999). Hum. Mol. Genet. 8, 501–557.
van de Sluis, B., Kole, S., van Wolferen, M., Holmes, N. G., Pearson, P. L., Rothuizen, J., Van Oost, B. A., and Wijmenga, C. (2000). Mamm. Genome. 11, 455–460.
van de Sluis, B., Rothuizen, J., Pearson, P.L., Van Oost, B.A., and Wijmenga, C. (2002). Hum. Mol. Genet. 11, 165–173.
Vulpe, C., Levinson, B., Whitney, S., Packman, S., and Gitschier, J. (1993). Nat. Genet. 3, 7–13.
Walker, J. M., Tsivkovskii, R., and Lutsenko, S. (2002). J. Biol. Chem. 277, 27953–27999.
Wareing, M., Ferguson, C. J., Green, R., Riccardi, D., and Smith, C. P. (2000). J. Physiol. 524(Part 2), 581–556.
Wu J., Forbes, J. R., Chen, H. S., and Cox D. W. (1994). Nat. Genet. 7, 541–545.
Yoshida, K., Furihata, K., Takeda, S., Nakamura, A., Yamamoto, K., Morita, H., Ikeda, S., Shimizu, N., and Yanagisawa, N. (1995). Nat. Genet. 9, 267–272.
Yuan, D. S., Stearman, R., Dancis, A., Dunn, T., Beeler, T., and Klausner, R. D. (1995). Proc. Natl. Acad. Sci. U.S.A. 92, 2632–2636.
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Cox, D.W., Moore, S.D.P. Copper Transporting P-Type ATPases and Human Disease. J Bioenerg Biomembr 34, 333–338 (2002). https://doi.org/10.1023/A:1021293818125
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DOI: https://doi.org/10.1023/A:1021293818125