The Wilson disease gene is a copper transporting ATPase with homology to the menkes disease gene

Nature Genetics

Volumn 5, Issue 4, 1993, Pages 344-350

  Tanzi, R E ^a   Petrukhin, K ^b,c   Chernov, I ^b,c   Pellequer, J L ^b   Wasco, W ^a   Ross, B ^b,c   Romano, D M ^a   Parano, E ^d   Pavone, L ^d   Brzustowicz, L M ^b,c   Devoto, M ^b,c   Peppercorn, J ^a   Bush, A I ^a   Sternlieb, I ^e,f,g   Pirastu, M ^h   Gusella, J F ^a   Evgrafov, O ⁱ   Penchaszadeh, G K ^b,c   Honig, B ^b   Edelman, I S ^b   Soares, M B ^b,c   Scheinberg, I H ^e,f,g   Gilliam, T C ^b,c   more..

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b Department of Psychiatry ^*  (United States)

^c NEW YORK STATE PSYCHIATRIC INSTITUTE   (United States)

^d UNIVERSITY OF CATANIA   (Italy)

^e Och Spine at New York Presbyterian Hospitals   (United States)

^f Natl Ctr Stud of Wilson's Dis   (United States)

^g ST LUKE S ROOSEVELT HOSPITAL CENTER   (United States)

^h CNR   (Italy)

ⁱ RESEARCH CENTRE FOR MEDICAL GENETICS   (Russian Federation)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SEQUENCE; CHROMOSOMAL LOCALIZATION; CHROMOSOME 13Q; COPPER METABOLISM; DNA SEQUENCE; GENE LOCATION; GENE MUTATION; HUMAN; MENKES SYNDROME; PROTEIN DOMAIN; REVIEW; SEQUENCE HOMOLOGY; WILSON DISEASE;

ADENOSINETRIPHOSPHATASE; AMINO ACID SEQUENCE; BASE SEQUENCE; COPPER; GENE EXPRESSION; HAPLOTYPES; HEPATOLENTICULAR DEGENERATION; HUMAN; LINKAGE DISEQUILIBRIUM; MENKES KINKY HAIR SYNDROME; MOLECULAR SEQUENCE DATA; MUTATION; SEQUENCE HOMOLOGY, AMINO ACID; SUPPORT, NON-U.S. GOV'T; SUPPORT, U.S. GOV'T, P.H.S.;

EID: 0027364961     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1293-344     Document Type: Article

References (37)

1. Scheinberg, I. H. & Sternlieb, I. Wilon’s Disease. Volume XXIII in Major Problems in Internal Medicine. Vol, XXII (ed. Lloyd H. Smith Jr.) (Saunders, Philadelphia, 1984).
2. Wilson, S. A. K. Progressive lenticular degeneration: A familial nervous disease associated with cirrhosis of the liver. Brain 34, 295-509 (1912).
3. Frydman, M. et al. Assignment of the gene for Wilson disease to chromosome 13: Linkage to the esterase D locus. Proc. natn. Acad. Sci. U. S. A. 82, 1819-1821 (1985).
4. Bonne'-Tamir, B., Farrer, L. A., Frydman, M. & Kannaane, L. H. Evidence for linkage between Wilsons disease and esterase D in three kindreds: detection of linkage for an autosomal recessive disorder in the family study method. Genet. Epidemiol. 3, 201-209 (1986).
5. Bowcock, A. M. et al. Mapping the Wilson’s disease locus to a cluster of linked polymorphic markers on chromosome 13. Am. J. hum. Genet. 41, 27-35 (1987).
6. Farrer, L. A. et al. Predictive testing for Wilsons disease using tightly linked and flanking DNA markers. Neurology 41, 992-999 (1991).
7. Bowcock, A. M., Farrer, L. A., Herber, J. M., Bale, A. E. & Cavalli-Sforza, L. L. A contiguous linkage map of chromosome 13q with 39 distinct loci separated on average by 5. 1 centimorgans. Genomics 11, 517-529 (1991).
8. Thomas, G. R. et al. Allelic association and linkage studies in Wilson disease. Hum. molec. Genet. 2, 1401-1405 (1993).
9. Stewart, E. A. et al. Polymorphic microsatellites and Wilson Disease (WD). Am. J. hum. Genet. 53, 864-873 (1993).
10. Petrukhin, K. et al. Mapping, cloning and genetic characterization of the regions containing the Wilson disease locus. Nature Genet. 5, 338-343 (1993).
11. Bush, A. I., Pettingell, W., Wasco, W., & Tanzi, R. E. Zinc-induced precipitation of βA4 is prevented by copper. Soc. Neurosci. Abs. 19, 19 (1993).
12. Glenner, G. G. & Wong, C. W. Alzheimer’s disease: Initial report of the purification and characterization of a novel cerebral vascular amyloid protein. Biochem. biophy. Res. Commun. 120, 885-890 (1984).
13. Vulpe, C., Levinson, B., Whitney, S., Packman, S. & Gitschier, J. Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nature Genet. 3, 7-13 (1993).
14. Chelly, J. et al. Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein. Nature Genet. 3, 14-19 (1993).
15. Mercer, J. F. B. et al. Isolation of a partial candidate gene for Menkes disease by positional cloning. Nature Genet. 3, 20-25 (1993).
16. Adams, M. D. et al. Rapid cDNA sequencing (expressed sequence tags) from a directionally cloned human infant brain cDNA library. Nature Genet. 4, 373-380 (1993).
17. Soares, M. B. Construction of directionally cloned cDNA libraries in phagemid vectors. in Automated DNA sequencing and analysis techniques. (ed. J. C. Ventor) (Academic Press, London, in the press).
18. Oedermatt, A., Suter, H., Kraps, R. & Solioz, M. Primary structure of two P-type ATPases involved in copper homeostasis in Enterococcus hirae. J. biol. Chem. 268, 12775-12779 (1993).
19. Ivy, D. M. et al. The cad C gene product of Alkalophilic Bacillus firmus OF4 partially restores Na+ resistance to an Escherichia coli strain lacking an Na+/H+ antiporter (NhaA). J. Bacteriol. 174, 4878-4884 (1992).
20. Silver, S. & Walderhaug, M. Gene regulation of plasmid and chromosomal determined inorganic ion transport in bacteria. Microbiol. Rev. 56, 195-222 (1992).
21. Silver, S., Nucifora, G., Chu, L. & Misra, T. K. Bacterial resistance ATPases: primary pumps for exporting toxic cations and anions. Trends biochem. Sci. 14, 76-80 (1989).
22. Devereau, J., Haeberli, P. & Smithies, O. A comprehensive set of sequence analysis programs for the VAX. Nucl. Acid Res. 12, 387-395 (1984).
23. 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).
24. 2+-ATPase of sarcoplasmic reticulum. J. biol. Chem. 264, 21024-21030 (1989).
25. Eisenberg, D., Weiss, R. M. & Terwilliger, T. C. The hydrophobic moment detects periodicity in protein hydrophobicity. Proc. natn. Acad. Sci. U. S. A. 81, 140-144 (1984).
26. Branden, C. & Tooze, J. Introduction to protein structure (Garland Publishing, New York 1991).
27. Menkes, J. H., Alter, M., Steigleder, G. K., Weakley, D. R. & Sung, J. H. A sex-linked recessive disorder with retardation of growth, peculiar hair and focal cerebral and cerebellar degeneration. Pediatrics 29, 764-779 (1962).
28. Gibbs, K. & Walshe, J. M. A study of the caeruloplasmin concentrations found in 75 patients with Wilson’s disease, their kinships and various control groups. Quart. J. Med. 48, 447 (1979).
29. Sass-Kortsak, A. & Bearn, A. G. in The Metabolic Basis of Inherited Disease 4th ed (ed. Stanbury J. B. et al.) 1098-1126 (McGraw-Hill, New York, 1978).
30. Chomczunsky, P. & Sacchi, N. Single-step method of RNA isolation by acid guanidinum thiocyanate-phenol-chloroform extraction. Anal. Biochem. 162, 156-159 (1987).
31. Maniatis, T., Fritsch, E. F. & Sambrook, J. Molecular Cloning. A Laboratory Manual. (Cold Spring Harbor Laboratories, New York, 1989).
32. Altschul, S. F., Gish, W., Miller, W., Myers, E. W. & Lipman, D. J. Basic Local Alignment Search Tool. J. molec. Biol. 215, 403-410 (1990).
33. Kyte, J. & Doolittle, R. F. A simple method for displaying the hydropathic character of a protein. J. molec. Biol. 157, 105-132 (1982).
34. Pellequer, J-L., Westhof, L. & Van Regenmortel, M. H. V. Correlation between the location of antigenic sites and the prediction of turns in proteins. Immunol. Lett. 36, 83-100 (1993).
35. Cornette, J. L. et al. Hydrophobicity scales and computational techniques for detecting amphipathic structures in proteins. J. molec. Biol. 195, 659-685 (1987).
36. Chou, P. Y. & Fasman, G. D. Prediction of protein conformation. Biochem. 13, 222-245 (1974).
37. Garnier, J., Osguthorpe, D. J. & Robson, B. Analysis of the accuracy and implications of simple methods for predicting the secondary structure of globular proteins. J. molec. Biol. 120, 97-120 (1978).