Characterization of the COMMD1 (MURR1) mutation causing copper toxicosis in Bedlington terriers

Animal Genetics

Volumn 36, Issue 6, 2005, Pages 497-501

  Forman, O P ^a   Boursnell, M E G ^a   Dunmore, B J ^a,e   Stendall, N ^b   Van De Sluis, B ^c   Fretwell, N ^b   Jones, C ^b   Wijmenga, C ^c   Rothuizen, J ^d   Van Oost, B A ^d   Holmes, N G ^a   Binns, M M ^a,f   Jones, P ^b  

^a ANIMAL HEALTH TRUST   (United Kingdom)

^b WALTHAM CENTRE FOR PET NUTRITION   (United Kingdom)

^c UTRECHT UNIVERSITY   (Netherlands)

^d UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^e UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^f ROYAL VETERINARY COLLEGE   (United Kingdom)

Author keywords

Bedlington terrier; Copper metabolism domain containing 1; Copper toxicosis; MURR1

Indexed keywords

CANIS FAMILIARIS;

COPPER; MICROSATELLITE DNA; PRIMER DNA; PROTEIN;

ANIMAL; ANIMAL DISEASE; ARTICLE; BASE PAIRING; COMPARATIVE STUDY; DNA SEQUENCE; DOG; DOG DISEASE; EXON; GENE DELETION; GENE LINKAGE DISEQUILIBRIUM; GENETICS; INBORN ERROR OF METABOLISM; METABOLISM; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE;

ANIMALS; BASE PAIRING; BASE SEQUENCE; COPPER; DNA PRIMERS; DOG DISEASES; DOGS; EXONS; LINKAGE DISEQUILIBRIUM; METABOLISM, INBORN ERRORS; MICROSATELLITE REPEATS; MOLECULAR SEQUENCE DATA; MUTATION; PROTEINS; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION;

EID: 33745461081     PISSN: 02689146     EISSN: 13652052     Source Type: Journal    
DOI: 10.1111/j.1365-2052.2005.01360.x     Document Type: Article

References (24)

1. Bremner I. (1998) Manifestations of copper excess. American Journal of Clinical Nutrition 67, 1069S 73S.
2. Bull P.C., Thomas G.R., Rommens J.M., Forbes J.R. Cox D.W. (1993) The Wilson's disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nature Genetics 5, 327 37 Erratum in: Nature Genetics (1994) 6, 214.
3. Coronado V.A., Damaraju D., Kohijoki R. Cox D.W. (2003) New haplotypes in the Bedlington terrier indicate complexity in copper toxicosis. Mammalian Genome 144, 83 91.
4. Haywood S., Fuentealba I.C. Kemp S.J. (2000) Copper toxicosis in Bedlington terriers. Veterinary Record 146, 383 4.
5. Haywood S., Fuentealba I.C., Kemp S.J. Trafford J. (2001) Copper toxicosis in the Bedlington terrier: a diagnostic dilemma. Journal of Small Animal Practice 42, 181 5.
6. Holmes N.G., Herrtage M.E., Ryder E.J. Binns M.M. (1998) DNA marker C04107 for copper toxicosis in a population of Bedlington terriers in the United Kingdom. Veterinary Record 142, 351 2.
7. Hyun C. Filippich L.J. (2004) Inherited canine copper toxicosis in Australian Bedlington terriers. Journal of Veterinary Science 5, 19 28.
8. Johnson G.F., Sternlieb I., Twedt D.C., Grushoff P.S. Scheinberg I. (1980) Inheritance of copper toxicosis in Bedlington terriers. American Journal of Veterinary Research 41, 1865 6.
9. Johnson G.F., Gilbertson S.R., Goldfischer S., Grushoff P.S. Sternlieb I. (1984) Cytochemical detection of inherited copper toxicosis of Bedlington terriers. Veterinary Pathology 21, 57 60.
10. Klomp A.E., van de Sluis B., Klomp L.W. Wijmenga C. (2003) The ubiquitously expressed COMMD1 protein is absent in canine copper toxicosis. Journal of Hepatology 39, 703 9.
11. Nabetani A., Hatada I., Morisaki H., Oshimura M. Mukai T. (1997) Mouse U2af1-rs1 is a neomorphic imprinted gene. Molecular and Cellular Biology 17, 789 98.
12. Pena M.M., Lee J. Thiele D.J. (1999) A delicate balance: homeostatic control of copper uptake and distribution. Journal of Nutrition 129, 1251 60.
13. van de Sluis B.J., Breen M., Nanji M. 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. Human Molecular Genetics 8, 501 7.
14. van de Sluis B., Kole S., van Wolferen M., Holmes N.G., Pearson P.L., Rothuizen J., van Oost B.A. Wijmenga C. (2000) Refined genetic and comparative physical mapping of the canine copper toxicosis locus. Mammalian Genome 11, 455 60.
15. van de Sluis B., Rothuizen J., Pearson P.L., van Oost B.A. Wijmenga C. (2002) Identification of a new copper metabolism gene by positional cloning in a purebred dog population. Human Molecular Genetics 11, 165 73.
16. Su L.C., Owen C.A. Jr., Zollman P.E. Hardy R.M. (1982) A defect of biliary excretion in copper-laden Bedlington terriers. American Journal of Physiology 243, 231 6.
17. Tao T.Y., Liu F., Klomp L., Wijmenga C. Gitlin J.D. (2003) The copper toxicosis gene product MURR1 directly interacts with the Wilson's disease protein. Journal of Biological Chemistry 278, 41593 6.
18. Teske E., Brinkhuis B.G., Bode P., van den Ingh T.S. Rothuizen J. (1992) Cytological detection of copper for the diagnosis of inherited copper toxicosis in Bedlington terriers. Veterinary Record 131, 30 2.
19. Thornburg L.P. (2000) A perspective on copper and liver disease in the dog. Journal of Veterinary Diagnostic Investigation 12, 101 10.
20. Thornburg L.P., Beissenherz M., Dolan M. Raisbeck M.F. (1985) Histochemical demonstration of copper and copper-associated protein in the canine liver. Veterinary Pathology 22, 327 32.
21. Twedt D.C., Sternlieb I. Gilbertson S.R. (1979) Clinical, morphologic, and chemical studies on copper toxicosis of Bedlington terriers. Journal of the American Veterinary Medical Association 175, 269 75.
22. Uauy R., Olivares M. Gonzalez M. (1998) Essentiality of copper in humans. American Journal of Clinical Nutrition 67, 952S 9S.
23. Yuzbasiyan-Gurkan V., Wagnitz S., Blanton S.H. Brewer G.J. (1993) Linkage studies of the esterase D and retinoblastoma genes to canine copper toxicosis: a model for Wilson's disease. Genomics 15, 86 90.
24. Yuzbasiyan-Gurkan V., Blanton S.H., Cao Y., Ferguson P., Li J., Venta P.J. Brewer G.J. (1997) Linkage of a microsatellite marker to the canine copper toxicosis locus in Bedlington terriers. American Journal of Veterinary Research 58, 23 7.