Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease

Human Molecular Genetics

Volumn 8, Issue 8, 1999, Pages 1547-1555

  Ambrosini, Loreta ^a   Mercer, Julian F B ^b  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b DEAKIN UNIVERSITY   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; COPPER;

ARTICLE; CONTROLLED STUDY; GOLGI COMPLEX; HUMAN; HUMAN CELL; IMMUNOBLOTTING; MALE; MENKES SYNDROME; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN LOCALIZATION; PROTEIN TRANSPORT;

ADENOSINE TRIPHOSPHATASES; ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; BIOLOGICAL TRANSPORT; BLOTTING, WESTERN; CARRIER PROTEINS; CATION TRANSPORT PROTEINS; CELLS, CULTURED; CHILD; COPPER; DNA; DNA MUTATIONAL ANALYSIS; HUMANS; MALE; MENKES KINKY HAIR SYNDROME; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; POINT MUTATION; RECOMBINANT FUSION PROTEINS; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 0032838080     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.8.1547     Document Type: Article

References (40)

1. Danks, D.M. (1995) Disorders of copper transport. In Scriver, C.R., Beaudet, A. L., Sly, W. M. and Valle, D. (eds), The Metabolic and Molecular Basis of Inherited Disease. McGraw-Hill, New York, NY, pp. 2211-2235.
2. Procopis, P., Camakaris, J. and Danks, D.M. (1981) A mild form of Menkes steely hair syndrome. J. Pediatr., 98, 97-99.
3. Vulpe, C., Levinson, B., Whitney, S., Packman, S. and Gitschier, J. (1993) Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nature Genet., 3, 7-13.
4. Mercer, J.F.B., Livingston, J., Hall, B.K., Paynter, J.A., Begy, C., Chandrasekharappa, S., Lockhart, P., Grimes, A., Bhave, M., Siemenack, D. and Glover, T.W. (1993) Isolation of a partial candidate gene for Menkes disease by positional cloning. Nature Genet., 3, 20-25.
5. Chelly, J., Türner, Z., Tønnesen, T., Petterson, A., Ishikawa-Brush, Y., Tømmerup, N., Horn, N. and Monaco, A.P. (1993) Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein. Nature Genet., 3, 14-19.
6. Pederson, P.L. and Carafoli, E. (1987) Ion motif ATPases. I. Ubiquity, properties and significance to cell function. Trends Biochem. Sci., 12, 146-150.
7. Odermatt, A., Suter, H., Krapf, R. and Solioz, M. (1993) Primary structure of two P-type ATPases involved in copper homeostasis in Enterococcus hirae. J. Biol. Chem., 268, 12775-12779.
8. Camakaris, J., Petris, M.J., Bailey, L., Shen, P., Lockhart, P., Glover, T.G., Barcroft, C.L., Patton, J. and Mercer, J.F.B. (1995) Gene amplification of the Menkes (MNK; ATP7A) P-type ATPase gene of CHO cells is associated with copper resistance and enhanced copper efflux. Hum. Mol. Genet., 4, 2117-2123.
9. Petris, M.J., Mercer, J.F.B., Culvenor, J.G., Lockhart, P., Gleeson, P.A. and Camakaris, J. (1996) Ligand-regulated transport of the Menkes copper P-type ATPase efflux pump from the Golgi apparatus to the plasma membrane: a novel mechanism of regulated trafficking. EMBO J., 15, 6084-6095.
10. La Fontaine, S., Firth, S.D., Lockhart, P.J., Brooks, H., Parton, R.G., Camakaris, J. and Mercer, J.F.B. (1998) Functional analysis and intracellular localization of human Menkes protein (MNK) stably expressed from a cDNA construct in Chinese hamster ovary cells (CHO-K1). Hum Mol. Genet., 7, 1293-1300.
11. Ackland, M.L., Cornish, E.J., Paynter, J.A., Grimes, A., Michalczyk, A. and Mercer, J.F.B. (1997) Expression of Menkes disease gene in mammary carcinoma cells. Biochem. J., 328, 237-243.
12. Goka, T.J., Stevenson, R.E., Hefferan, P.M. and Howell, R.R. (1976) Menkes disease: a biochemical abnormality in cultured human fibroblasts. Proc. Natl Acad. Sci. USA, 73, 604-606.
13. Camakaris, J., Danks, D.M., Ackland, L., Cartwright, E., Borger, P. and Cotton, R.G.H. (1980) Altered copper metabolism in cultured cells from human Menkes' syndrome and mottled mouse mutants. Biochem. Genet., 18, 117-131.
14. Dierick, H., Ambrosini, L., Spencer, J., Glover, T.W. and Mercer, J.F.B. (1995) Molecular structure of the Menkes disease gene (ATP7A). Genomics, 28, 462-469.
15. Turner, Z., Vural, B., Tønnesen, T., Chelly, J., Monaco, A.P. and Horn, N. (1995) Characterization of the exon structure of the Menkes disease gene using vectorette PCR. Genomics, 26, 437-442.
16. Danks, D.M. (1988) The mild form of Menkes disease: progress report on the original case. Am. J. Med. Genet., 30, 859-864.
17. Danks, D.M., Campbell, P.E., Stevens, B.J., Mayne, V. and Cartwright, E. (1972) Menkes's kinky hair syndrome: an inherited defect in copper absorption with widespread effects. Pediatrics, 50, 188-201.
18. Christodoulou, J., Danks, D.M., Sarkar, B., Baerlocher, K.E., Casey, R., Horn, N., Türner, Z. and Clarke, J.T.R. (1998) Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients. Am. J. Med. Genet., 76, 154-164.
19. Shapiro, M.B. and Senapathy, P. (1987) RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res., 15, 7155-7175.
20. Yamaguchi, Y., Heiny, M.E., Suzuki, M. and Gitlin, J.D. (1996) Biochemical characterization and intracellular localization of the Menkes disease protein. Proc. Natl Acad. Sci. USA, 93, 14030-14035.
21. Lutsenko, S. and Cooper, M.J. (1998) Localization of the Wilson's disease protein product to mitochondria. Proc. Natl Acad. Sci. USA, 95, 6004-6009.
22. Ladinsky, M.S. and Howell, K.E. (1992) The trans-Golgi network can be dissected structurally and functionally from the cisternae of the Golgi complex by brefeldin A. Eur. J. Cell. Biol., 59, 92-105.
23. Molloy, S.S., Thomas, L., VanSlyke, J.K., Stenberg, P.E. and Thomas, G. (1994) Intracellular trafficking and activation of the furin proprotein convertase: localisation to the TGN and recycling from the cell surface. EMBO J., 13, 18-33.
24. 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) Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. Nature Genet., 8, 195-202.
25. Strausak, D., La Fontaine, S., Hill, J., Firth, S.D., Lockhart, P.J. and Mercer, J.F.B. (1999) The role of GMXCXXC metal binding sites in the copper-induced redistribution of the Menkes protein. J. Biol. Chem., 274, 11170-11177.
26. Payne, A.S., Kelly, E.J. and Gitlin, J.D. (1998) Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation. Proc. Natl Acad. Sci. USA, 95, 10854-10859.
27. Qi, M. and Byers, P.H. (1998) Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the Menkes protein and produces the occipital horn syndrome. Hum. Mol. Genet., 7, 465-469.
28. Petris, M.J., Camakaris, J., Greenough, M., La Fontaine, S. and Mercer, J.F.B. (1998) A C-terminal di-leucine is required for localization of the Menkes protein in the trans-Golgi network. Hum, Mol. Genet., 7, 2063-2071.
29. Kaler, S.G. (1996) Menkes disease mutations and response to early copper histidine treatment. Nature Genet., 13, 21-22.
30. Das, S., Levinson, B., Whitney, S., Vulpe, C., Packman, S. and Gitschier, J. (1994) Diverse mutations in patients with Menkes disease often lead to exon skipping. Am. J. Hum Genet., 55, 883-889.
31. Türner, Z., Lund, C., Tolshave. J., Vural, B., Tønnesen, T. and Horn, N. (1997) Identification of point mutations in 41 unrelated patients affected with Menkes disease. Am. J. Hum. Genet., 60, 63-71.
32. Paynter, J.A., Grimes, A., Lockhart, P. and Mercer, J.F.B. (1994) Expression of the Menkes gene homologue in mouse tissues; lack of effect of copper on mRNA levels. FEBS Lett., 351, 186-190.
33. Sambrook, J., Fritsch, E.F. and Maniatis, T. (1989). Molecular Cloning: A Laboratory Manual. 2nd edn. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, New York, NY.
34. Miller, S.A., Dykes, D.D. and Polesky, H.F. (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res., 16, 1215.
35. Mercer, J.F.B., Grimes, A., Ambrosini, L., Lockhart, P., Paynter, J.A., Dierick, H. and Glover, T.W. (1994) Mutations in the murine homologue of the Menkes gene in dappled and blotchy mice. Nature Genet., 6, 374-378.
36. Bull, P.C., Thomas, G.R., Rommens, J.M., Forbes, J.R. and Cox, D.W. (1993) The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nature Genet., 5, 327-337.
37. Theophilos, M.B., Cox, D.W. and Mercer, J.F.B. (1996) The toxic milk mouse is a murine model of Wilson disease. Hum. Mol Genet., 5, 1619-1624.
38. Wu, J., Forbes, J.R., Chen, H.S. and Cox, D.W. (1994) The LEC rat has a deletion in the copper transporting ATPase gene homologous to the Wilson disease gene. Nature Genet., 7, 541-545.
39. Sambongi, Y., Wakabayashi, T., Yoshimizu, T., Omote, H., Oka, T. and Futai, M. (1997) Caenorhabditis elegans cDNA for a Menkes/Wilson disease gene homologue and its function in a yeast CCC2 gene deletion mutant. J. Biochem., 121, 1169-1175.
40. 2+ ATPase subfamily. Yeast, 11, 283-292.