Mutation analysis of 218 Chinese patients with Wilson disease revealed no correlation between the canine copper toxicosis gene MURR1 and Wilson disease

Journal of Molecular Medicine

Volumn 84, Issue 5, 2006, Pages 438-442

  Wu, Zhi Ying ^a   Zhao, Gui Xian ^a   Chen, Wan Jin ^a   Wang, Ning ^a   Wan, Bo ^b   Lin, Min Ting ^a   Murong, Shen Xing ^a   Yu, Long ^b  

^a FUJIAN MEDICAL UNIVERSITY   (China)

^b FUDAN UNIVERSITY   (China)

Author keywords

Correlation Chinese; MURR1; Mutation analysis; Wilson disease

Indexed keywords

ARGININE; GLYCINE;

3' UNTRANSLATED REGION; ARTICLE; ATP7B GENE; CHINESE; CHROMOSOME; CLINICAL FEATURE; CONTROLLED STUDY; COPPER METABOLISM; DOG; EXON; GENE; GENE MUTATION; GENETIC POLYMORPHISM; HUMAN; INTRON; LIVER CIRRHOSIS; MAJOR CLINICAL STUDY; MURR1 GENE; NUCLEOTIDE SEQUENCE; WILSON DISEASE;

3' UNTRANSLATED REGIONS; ADENOSINE TRIPHOSPHATASES; ASIAN CONTINENTAL ANCESTRY GROUP; CARRIER PROTEINS; CASE-CONTROL STUDIES; CATION TRANSPORT PROTEINS; CHINA; DNA MUTATIONAL ANALYSIS; EXONS; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HEPATOLENTICULAR DEGENERATION; HUMANS; MUTATION; POLYMORPHISM, GENETIC; PROTEINS;

EID: 33646349507     PISSN: 09462716     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00109-005-0036-y     Document Type: Article

References (23)

1. Danks DM (1995) Disorders of copper transport. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease. McGraw-Hill, New York, pp 2211-2235
2. Brewer GJ (1998) Wilson disease and canine copper toxicosis. Am J Clin Nutr 67(Suppl):1087-1090
3. Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW (1993) The Wilson disease is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet 5:327-335
4. Tanzi RE, Petrukhin K, Chernov 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
5. Kenney S, Cox DW. Wilson disease mutation database. http://www.medgen.med.ualberta.ca/database.html
6. Thomas GR, Forbes JR, Roberts EA, Walshe JM, Cox DW (1995) The Wilson disease gene: spectrum of mutations and their consequences. Nat Genet 9:210-217
7. Figus A, Angius A, Loudianos G, Bertini C, Dessi V, Loi A et al (1995) Molecular pathology and haplotype analysis of Wilson disease in Mediterranean population. Am J Hum Genet 57:1318-1324
8. Shah AB, Chernov I, Zhang HT, Ross BM, Das K, Lutsenko S et al (1997) Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses. Am J Hum Genet 61:317-328
9. Kalinsky H, Funes A, Zeldin A, pel-Or Y, Korostishevsky M, Gershoni-Baruch R et al (1998) Novel ATP7B mutation causing Wilson disease in several Israeli ethnic groups. Hum Mutat 11:145-151
10. Chuang LM, Wu HP, Jang MH, Wang TR, Sue WC, Lin BJ et al (1996) High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease. J Med Genet 33:521-523
11. Nanji MS, Nguyen VT, Kawasoe JH, Inui K, Endo F, Nakajima T et al (1997) Haplotype and mutation analysis in Japanese with Wilson disease. Am J Hum Genet 60:1423-1429
12. Kim EK (1998) Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease. Hum Mutat 11:275-278
13. Wu ZY, Wang N, Lin MT, Fang L, Murong SX, Yu L (2001) Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in Chinese patients with Wilson disease. Arch Neurol 58:971-976
14. Stapelbroek JM, Bollen CW, van Amstel JKP (2004) The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: results of a meta-analysis. J Hepatol 41:758-763
15. van de Sluis B, Breen M, Nanji M, van Wolferen M, de Jong P, Binns MM (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
16. van de Sluis B, 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
17. Tao TY, Liu F, Klomp L, Wijmenga C, Gitlin JD (2003) The copper toxicosis gene product Murr1 directly interacts with the Wilson disease protein. J Biol Chem 278:41593-41596
18. Stuehler B, Reichert J, Stremmel W, Schaefer M (2004) Analysis of the human homologue of the canine copper toxicosis gene MURR1 in Wilson disease patients. J Mol Med 82:629-634
19. Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
20. Ng PC, Henikoff S (2003) SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res 31:3812-3814
21. Coronado VA, Damaraju D, Kohijoki R, Cox DW (2003) New haplotypes in the Bedlington terrier indicate complexity in copper toxicosis. Mamm Genome 14:483-891
22. Hyun C, Lavulo LT, Filippich LJ (2004) Evaluation of haplotypes associated with copper toxicosis in Bedlington terriers in Australia. Am J Vet Res 65:1573-1579
23. Mueller T, van de Sluis B, Zhernakova A, van Binsbergen E, Janecke A, Bavdekar A (2003) The canine copper toxicosis gene MURR1 does not cause non-Wilsonian hepatic copper toxicosis. J Hepatol 38:164-168