Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper−transporting ATPase

1. Danks, D.M. in The Metabolic Basis of Inherited Disease (eds Scrives, C., Beaudet, A., Sly, W. & Valle, D.) 1411−1432 (McGraw-Hill, New York, 1989).
2. van den Berg, G.J., et al. Muscle cell cultures in Menkes' disease: Copper accumulation in myotubes. J. Inher. metab. Dis. 13, 207−211 (1990).
3. Packman, S. Regulation of copper metabolism in the Mottled mouse. Arch. Dermatol. 123, 1545−1547a (1987).
4. Darwish, H.M., Hoke, J.E. & Ettinger, M.J. Kinetics of Cu(ll) transport and accumulation by hepatocytes from copper-deficient mice and the brindled mouse model of Menkes disease. J. biol. Chem. 258, 13621−13626 (1983).
5. Tonneson, T. & Horn, N. Prenatal and postnatal diagnosis of Menkes' disease, an inherited disorder of copper metabolism. J. Inher. metab. Dis. 12, 207−214 (1989).
6. Kapur, S., Higgin, J.V., Delp, K. & Rogers, B. Menkes syndrome in a girl with X-autosome translocation. Am. J. med. Genet. 26, 503−510 (1987).
7. Tonnesen, T. et al. Multi-point linkage analysis in Menkes disease. Am. J. hum. Genet. 50, 1012−1017 (1992).
8. Tumer, Z., et al. Mapping of the Menkes locus to Xq13.3 distal to the X-inactivation center by an intrachromosomal insertion of the segment Xq13.3-q21.2. Hum. Genet. 88, 668−672 (1992).
9. Davisson, M.T., Roderick, T.H. & Doolittle, D.P. in Genetic variants and strains of the laboratory mouse (eds Lyon, M.F. & Searle, A.G.) 432−505 (Oxford University Press, 1990).
10. Brockdorff, N. High density molecular map of the central space of the mouse X chromosome. Genomics 10, 17−22 (1991).
11. Verga, V., et al. Localization of the translocation breakpoint in a female with Menkes syndrome to Xq13.2. Am. J. hum. Genet. 48, 1133−1138 (1991).
12. Riley, J., et al. A novel, rapid method for the isolation of terminal sequences from yeast artificial chromosome (YAC) clones. Nucl. Acids Res. 18, 2887−2890 (1990).
13. Nelson, D.L., et al. Alu polymerase chain reaction: A method for rapid isolation of human-specific sequences from complex DNA sources. Proc. natn. Acad. Sci. U.S.A. 86, 6686−6690 (1989).
14. Tumer, Z., et al. Characterization of a 1.0 Mb YAC contig spanning two chromosome breakpoints related to Menkes disease. Hum. molec. Genet. 1, 483−489 (1992).
15. Buckler, A.J., et al. Exon amplification: A strategy to isolate mammalian genes based on RNA splicing. Proc. natn. Acad. Sci. U.S.A. 88, 4005−4009 (1991).
16. Richards, R.I. & Sutherland, G.R. Heritable unstable DNA sequences. Nature Genet. 1, 7−9 (1992).
17. Oedermatt, A., Suter, H., Kraps, R. & Solioz, M. An ATPase operon involved in copper resistance by Enterococcus hirae. Ann. N.Y. Acad. Sci. (in the press).
18. Solioz, M., Mathews, S. & Furst, P. Cloning of the K⁺-ATPase of Streptococcus faecalis. J. biol. Chem. 262, 7358−7362 (1987).
19. Nucifora, G., Chu, L., Misra, T.K. & Silver, S. Cadmium resistance from Staphylococcus aureus plasmid pl258 cadA gene results from a cadmium-efflux ATPase. Proc. natn. Acad. Sci. U.S.A. 86, 3544−3548 (1989).
20. Ivey, D.M., et al. The cadC gene product of alkaliphilic Bacillus firmus OF4 partially restores Na⁺ resistance to an escherichia coli strain lacking an Na⁺/H⁺ antiporter (NhaA). J. Bacteriol. 174, 4878−4884 (1992).
21. Hesse, J.E., et al. Sequence homology between two membrane transport ATPases, the Kdp-ATPase of Escherichia coli and the Ca²⁺-ATPase of sarcoplasmic reticulum. Proc. natn Acad. Sci. U.S.A. 81, 4746−4750 (1984).
22. Kahn, D., et al. Rhizobium meliloti fixGHI sequence predicts involvement of a specific cation pump in symbiotic nitrogen fixation. J. Bacteriol. 171, 929−939 (1989).
23. Shull, G.E., Schwartz, A. & Lingrel, J.B. Amino-acid sequence of the catalytic subunit of the (Na⁺ +K⁺) ATPase deduced from a complementary DNA. Nature 316, 691−695 (1985).
24. Brandl, C.J., Green, N.M., Korczak, B. & MacLennan, D.H. Two Ca2⁺ ATPase genes: Homologies and mechanistic implications of deduced amino acid sequences. Cell 44, 597−607 (1986).
25. Serrano, R. Structure and function of proton translocating ATPase in plasma membranes of plants and fungi. Biochim. Biophys. Acta 947, 1−28 (1988).
26. Inesi, G. & Kirtley, M.R. Structural features of cation transport ATPases. J. Bioenerg. Biomem. 24, 271−283 (1992).
27. MacLennan, D.H. Molecular tools to elucidate problems in excitation-contraction coupling. Biophys. J. 58, 1355−1365 (1990).
28. Wach, A., Schlesser, A. & Goffeau, A. An alignment of 17 deduced protein sequences from plant, fungi, and ciliate H⁺-ATPase genes. J. Bioenerg. Biomem. 24, 309−317 (1992).
29. Portillo, F. & Serrano, R. Dissection of functional domains of the yeast proton-pumping ATPase by directed mutagenesis. EMBO J. 7, 1793−1798 (1988).
30. Portillo, F. & Serrano, R. Growth control strength and active site of yeast plasma membrane ATPase studied by site-directed mutagenesis. Eur. J. Biochem. 186, 501−507 (1989).
31. Vilsen, B., Andersen, J.P., Clarke, D.M. & MacLennan, D.H. Functional consequences of proline mutations in the cytoplasmic and transmembrane sectors of Ca⁺⁺-ATPase of sarcoplasmic reticulum. J. biol. Chem. 264, 21024−21030 (1989).
32. Clarke, D.M., Loo, T.W. & MacLennan, D.H. Functional consequences of alterations to polar amino acids located in the transmembrane domain of the Ca⁺⁺-ATPase of sarcoplasmic reticulum. J. biol. Chem. 265, 6262−6267 (1990).
33. Silver, S. & Walderhaug, M. Gene regulation of plasmid- and chromosome-determined inorganic ion transport in bacteria. Microbiol. Rev. 56, 195−228 (1992).
34. Waldrop, G.L., Palida, F.A., Hadi, M., Lonergan, P.A. & Ettinger, M.J. Effect of albumin on net copper accumulation by fibroblasts and hepatocytes. Am. Physiol. Soc. 259, G219−G224 (1990).
35. Packman, S., O'Toole, C., Price, D. & Thaler, M. Cadmium zinc and copper metabolism in the Mottle mouse, an animal model for Menkes' kinky hair syndrome. J. Inorg. Biochem. 19, 203−211 (1983).
36. Packman, S. & O'Toole, C. Trace metal metabolism in cultured skin fibroblasts of the Mottled mouse: response to metallothionein inducers. Ped. Res. 18, 1282−1286 (1984).
37. Herd, S.M., Camakaris, J., Christofferson, R., Wookey, P. & Danks, D.M. Uptake and efflux of copper-64 in Menkes'-disease and normal continuous lymphoid cell lines. Biochem. J. 247, 341−347 (1987).
38. Packman, S., Sample, S. & Whitney, S. Defective intracellular copper translocation in Menkes' kinky hair syndrome. Ped. Res. 21, 293 (1987).
39. Kuivaniemi, H., Peltonen, L., Palotie, A., Kaitila, I. & Kavirikko, K. Abnormal copper metabolism and deficient lysyl oxidase activity in a heritable connective tissue disorder. J. clin. Invest. 69, 730−733 (1981).
40. Packman, S., Palmiter, R.D., Karin, M. & O'Toole, C. Metallothionein messenger RNA regulation in the Mottled mouse and Menkes kinky hair syndrome. J. clin. Invest. 79, 1338−1342 (1987).
41. Waldrop, G.L. & Ettinger, M.J. The relationship of excess copper accumulation by fibroblasts from the brindled mouse model of Menkes disease to the primary defect. Biochem. J. 267, 417−422 (1990).
42. Cha, J.-S. & Cooksey, D.A. Copper resistance in Pseudomonas syringae mediated by periplasmic and outer membrane proteins. Proc. natn. Acad. Sci. U.S.A. 88, 8915−8919 (1991).
43. Rogers, S.D., Bhave, M.R., Mercer, J.F.B., Camakaris, J. & Lee, B.T.O. Cloning and characterization of cutE, a gene involved in copper transport in Escherichia coli. J. Bacteriol. 173, 6742−6748 (1991).
44. Brown, N.L., Rouch, D.A. & Lee, T.O. Copper resistance determinants in bacteria. Plasmid 27, 41−51 (1992).
45. Kagi, J.H.R. & Schaffer, A. Biochemistry of metallothionein. Biochemistry 27, 8509−8515 (1988).
46. Chelly, J., et al. Isolation of a candidate gene for Menkes disease which encodes for a potential heavy metal binding protein. Nature Genet. 14−19 (1993).
47. Mercer, J.F.B., et al. Isolation of a partial candidate gene for Menkes disease by positional cloning. Nature Genet. 20−25 (1993).
48. Murnane, J.P., Fuller, L.F. & Painter, R.B. Establishment and characterization of a permanent pSV ori-transformed ataxia-telangiectasia cell line. Exp. Cell Res. 158, 119−126 (1985).
49. Levinson, B., et al. A transcribed gene in an intron of the human factor VIII gene. Genomics 7, 1−11 (1990).
50. Marchuk, D.A. & Collins, F.S. in YAC libraries: A user's guide (eds. Nelson, D. & Brownstein, B.) (W.H. Freeman, New York) (in the press).
51. Kovalic, D., Kwak, J. & Weisblum, B. General method for direct cloning of DNA fragments generated by primed enzymatic amplification. Nucl. Acids Res. 19, 4560−4563 (1991).
52. Kyte, J. & Doolittle, R.F. A simple method for displaying the hydropathic character of a protein. J. molec. Biol. 157, 105−132 (1982).
53. Devereux, J., Haeberli, P. & Smithies, O. A comprehensive set of sequence analysis programs for the VAX. Nucl. Acids Res. 12, 387−395 (1984).

	Top

	Top