Analysis of the human homologue of the canine copper toxicosis gene MURR1 in Wilson disease patients

Journal of Molecular Medicine

Volumn 82, Issue 9, 2004, Pages 629-634

  Stuehler, Bettina ^a   Reichert, Juergen ^a   Stremmel, Wolfgang ^a   Schaefer, Mark ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

ATP7B; Canine copper toxicosis; Murr1; Mutation analysis; Wilson disease

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BASE PAIRING; CANINE COPPER TOXICOSIS; DOG; EXON; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC VARIABILITY; HUMAN; HUMAN CELL; INTOXICATION; MURR1 GENE; OPEN READING FRAME; WILSON DISEASE;

ADENOSINE TRIPHOSPHATASES; AGE OF ONSET; AMINO ACID SUBSTITUTION; ANIMALS; CATION TRANSPORT PROTEINS; CODON; COPPER; DNA MUTATIONAL ANALYSIS; DOG DISEASES; DOGS; EXONS; GENETIC HETEROGENEITY; GENOTYPE; HEPATOLENTICULAR DEGENERATION; HETEROZYGOTE; HUMANS; INTRONS; MUTATION, MISSENSE; POINT MUTATION; POLYMORPHISM, GENETIC; PROTEINS; SPECIES SPECIFICITY;

EID: 4744373669     PISSN: 09462716     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00109-004-0557-9     Document Type: Article

References (26)

1. Scheinberg IH, Sternlieb I (1984) Wilson's disease. Saunders, Philadelphia
2. Gollan JL, Gollan TJ (1998) Wilson disease in 1998: genetic, diagnostic and therapeutic aspects. J Hepatol 28 [Suppl 1]:28-36
3. Schilsky ML (1996) Wilson disease: genetic basis of copper toxicity and natural history. Semin Liver Dis 16:83-95
4. Bowcock AM, Farrer LA, Herbet JM, Agger M, Sternlieb I, Scheinberg IH et al (1988) Eight closely linked loci place the Wilson's disease locus within 13q14-q21. Am J Hum Genet 43:664-674
5. Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW (1993) The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet 5:327-337
6. Petrukhin K, Fischer SG, Piratsu M, Tanzi RE, Chernov I, Devoto M et al (1993) Mapping, cloning and genetic characterization of the region containing the Wilson disease gene. Nat Genet 5:338-343
7. Tanzi RE, Petrukhin K, Chernow I, Pellequer JL, Wasco W, Ross B et al (1993) The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet 5:344-350
8. Schaefer M, Gitlin JD (1999) Genetic disorders of membrane transport. IV. Wilson's disease and Menkes disease. Am J Physiol 276:G311-G314
9. Brewer GJ (1998) Wilson disease and canine copper toxicosis. Am J Clin Nutr 67 [Suppl]:1087-1090
10. Kenney S, Cox DW (curators) (ND) Wilson disease mutation database.http://www.uofa-medical-genetics.org/wilson/index.php
11. Brewer GJ (2000) Recognition, diagnosis, and management of Wilson's disease. Proc Soc Exp Biol Med 223:39-46
12. Gordon RT, Forbes JR, Roberts EA, Walshe JM, Cox DW (1995) The Wilson disease gene: spectrum of mutations and their consequences. Nat Genet 9:210-217
13. Riordan SM, Williams R (2001) The Wilson's disease gene and phenotypic diversity. J Hepatol 34:165-171
14. Schiefermeier M, Kollegger H, Madl C, Polli C, Oder W, Kuehn HJ et al (2000) The impact of apolipoprotein E genotypes on age at onset of symptoms and phenotypic expression in Wilson's disease. Brain 123:585-590
15. Schaefer M, Hopkins RG, Failla ML, Gitlin JD (1999) Hepatocyte-specific localization and copper-dependent trafficking of the Wilson's disease protein in the Liver. Am J Physiol 276:G639-G646
16. Hardy RM, Stevens J, Band-Stowe CM (1975) Chronic progressive hepatitis in Bedlington terriers associated with elevated liver copper concentrations. Minn Vet 15:13-24
17. Johnson GF, Sternlieb I, Twedt DC, Grushoff PS, Scheinberg I (1980) Inheritance of copper toxicosis in Bedlington terriers. Am J Vet Res 41:1865-1866
18. Owen CA Jr, Ludwig J (1982) Inherited copper toxicosis in Bedlington terriers: Wilson' disease (hepatolenticular degeneration). Am J Pathol 106:432-434
19. Twedt DC, Sternlieb I, Gilbertson SR (1979) Clinical, morphological and chemical studies on copper toxicosis of Bedlington terriers. J Am Vet Med Assoc 175:269-275
20. Sluis BJ van de, Breen M, Nanji M, van Wolferen M, de Jong P, Binns MM et al (1999) Genetic mapping of the copper toxicosis locus in Bedlington terriers to dog chromosome 10, in a region syntenic to human chromosome region 2p13-p16. Hum Mol Genet 8:501-507
21. Nabetani A, Hatada I, Morisaki H, Oshimura M, Mukai T (1997) Mouse U2af1-rs1 is a neomorphic imprinted gene. Mol Cell Biol 17:789-798
22. Sluis B van de, Rothuizen J, Pearson PL, van Oost BA, Wijmenga C (2002) Identification of a new copper metabolism gene by positional cloning in a purebred dog population. Hum Mol Genet 11:165-173
23. Klomp AE, van de Sluis B, Klomp LW, Wijmenga C (2003) The ubiquitously expressed MURR1 protein is absent in canine copper toxicosis. J Hepatol 39:703-709
24. Mueller T, van de Sluis B, Zhernakova A, van Binsbergen E, Janecke AR, Bavdekar A et al (2003) The canine copper toxicosis gene MURR1 does not cause non-Wilsonian hepatic copper toxicosis. J Hepatol 38:164-168
25. Tao TY, Liu F, Klomp L, Wijmenga C, Gitlin J (2003) The copper toxicosis gene product Murr1 directly interacts with the Wilson disease protein. J Biol Chem 278:41593-41596
26. Hefter H, Weiss P, Wesch H, Stremmel W, Feist D, Freund HJ (1995) Late diagnosis of Wilson's Disease in a case without onset of symptoms. Acta Neurol Scand 91:302-305