Alteration of copper physiology in mice overexpressing the human Menkes protein ATP7A

American Journal of Physiology - Regulatory Integrative and Comparative Physiology

Volumn 290, Issue 5, 2006, Pages

  Ke, Bi Xia ^a   Llanos, Roxana M ^a   Wright, Magali ^a   Deal, Yolanda ^a   Mercer, Julian F B ^a  

^a DEAKIN UNIVERSITY   (Australia)

Author keywords

Copper homeostasis; Transgenic mice

Indexed keywords

BETA ACTIN; COPPER; MENKES PROTEIN; MESSENGER RNA;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; CEREBELLUM; CHOROID PLEXUS; CONTROLLED STUDY; COPPER BLOOD LEVEL; FEMALE; GENE EXPRESSION; HEART MUSCLE; HIPPOCAMPUS; HOMEOSTASIS; IMMUNOHISTOCHEMISTRY; INTESTINE CELL; KIDNEY TUBULE; LIVER CELL; LUNG; MALE; MOUSE; NONHUMAN; ORGAN DISTRIBUTION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; SMOOTH MUSCLE; TISSUE LEVEL; TRANSGENE; TRANSGENIC MOUSE; WESTERN BLOTTING;

ACTINS; ADENOSINE TRIPHOSPHATASES; ANIMALS; BLOTTING, WESTERN; CATION TRANSPORT PROTEINS; CHICKENS; COPPER; HUMANS; IMMUNOHISTOCHEMISTRY; MICE; MICE, INBRED C57BL; MICE, TRANSGENIC; PROMOTER REGIONS (GENETICS); SPECTROPHOTOMETRY, ATOMIC; TISSUE DISTRIBUTION;

EID: 33646466319     PISSN: 03636119     EISSN: 15221490     Source Type: Journal    
DOI: 10.1152/ajpregu.00806.2005     Document Type: Article

References (39)

1. Ackland ML, Anikijenko P, Michalczyk A, and Mercer JFB. Expression of Menkes copper-transporting ATPase, MNK, in the lactating human breast: possible role in copper transport into milk. J Histochem Cytochem 47: 1553-1562, 1999.
2. Bull PC and Cox DW. Wilson disease and Menkes disease: new handles on heavy-metal transport. Trends Genet 10: 246-252, 1994.
3. Bull PC, Thomas GR, Rommens JM, Forbes JR, and Wilson Cox D. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet 5: 327-337, 1993.
4. Camakaris J, Petris MJ, Bailey L, Shen P, Lockhart P, Glover TW, Barcroft CL, Patton J, and Mercer JFB. Gene amplification of the Menkes (MNK; ATP7A) P-type ATPase gene of CHO cells is associated with copper resistance and enhanced copper efflux. Hum Mol Genet 4: 2117-2123, 1995.
5. Chelly J, Tümer Z, Tønnesen T, Petterson A, Ishikawa-Brush Y, Tommerup N, Horn N, and Monaco AP. Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein. Nat Genet 3: 14-19, 1993.
6. Cox DW. Genes of the copper pathway. Am J Hum Genet 56: 828-834, 1995.
7. Critchley HOD, Wang H, Kelly RW, Gebbie AE, and Glasier AF. Progestin receptor isoforms and prostaglandin dehydrogenase in the endometrium of women using a levonorgestrel-releasing intrauterine system. Hum Reprod 13: 1210-1217, 1998.
8. Danks DM. Disorders of copper transport. In: Metabolic and Molecular Basis of Inherited Disease (7th ed.), edited by Scriver CR, Beaudet AL, Sly WS, and Valle D. New York: McGraw-Hill, 1995, vol. I, pt. 10, p. 2211-2235.
9. Elsherif L, Wang L, Saari JT, and Kang YJ. Regression of dietary copper restriction-induced cardiomyopathy by copper repletion in mice. J Nutr 134: 855-860, 2004.
10. Greenough M, Pase L, Voskoboinik I, Petris MJ, Wilson O'Brien A, and Camakaris J. Signals regulating trafficking of the Menkes (MNK; ATP7A) copper-translocating P-type ATPase in polarized MDCK cells. Am J Physiol Cell Physiol 287: C1463-C1471, 2004.
11. br): a murine model of Menkes disease. Hum Mol Genet 6: 1032-1042, 1997.
12. Hardman B, Manuelpillai U, Wallace EM, van de Waasenburg S, Cater M, Mercer JFB, and Ackland ML. Expression and localization of Menkes and Wilson copper transporting ATPases in human placenta. Placenta 25: 512-517, 2004.
13. Horn N. Copper incorporation studies on cultured cells for prenatal diagnosis of Menkes' disease. Lancet 1: 1156-1158, 1976.
14. Iwase T, Nishimura M, Sugimura H, Igarashi H, Ozawa F, Shinmura K, Suzuki M, Tanaka M, and Kino I. Localization of Menkes gene expression in the mouse brain: its association with neurological manifestations in Menkes and model mice. Acta Neuropathol (Berl) 91: 482-488, 1996.
15. Kosonen T, Uriu-Hare JY, Clegg MS, Keen CL, and Rucker RB. Incorporation of copper into lysyl oxidase. Biochem J 327: 283-289, 1997.
16. La Fontaine S, Firth SD, Lockhart PJ, Brooks H, Parton RG, Camakaris J, and Mercer JFB. Functional analysis and intracellular localization of the human Menkes protein (MNK) stably expressed from a cDNA construct in Chinese hamster ovary cells (CHO-K1). Hum Mol Genet 7: 1293-1300, 1998.
17. Linder MC. Biochemistry of Copper. New York: Plenum, 1991.
18. Linder MC, Wooten L, Cerveza P, Cotton S, Shulze R, and Lomeli N. Copper transport. Am J Clin Nutr 67, Suppl 5: 965S-971S, 1998.
19. Llanos RM and Mercer JFB. The molecular basis of copper homeostasis copper-related disorders. DNA Cell Biol 21: 259-270, 2002.
20. Mercer JFB, Kramer D, and Camakaris J. Molecular basis of diseases of copper homeostasis. In: Handbook of Copper Pharmacology and Toxicology, edited by Massaro EJ. Totowa, NJ: Humana, 2002, p. 249-276.
21. Mercer JFB, Livingston J, Hall B, Paynter JA, Begy C, Chandrasekharappa S, Lockhart P, Grimes A, Bhave M, Siemieniak D, and Glover TW. Isolation of a partial candidate gene for Menkes disease by positional cloning. Nat Genet 3: 20-25, 1993.
22. Monty F, Llanos RM, Mercer JFB, and Kramer DR. Copper exposure induces trafficking of the Menkes protein in intestinal epithelium of ATP7A transgenic mice. J Nutr 135: 2762-2766, 2005.
23. Moore SDP and Cox DW. Expression in mouse kidney of membrane copper transporters Atp7a and Atp7b. Nephron 92: 629-634, 2002.
24. Murata Y, Kodama H, Abe T, Ishida N, Nishimura M, Levinson B, Gitschier J, and Packman S. Mutation analysis and expression of the mottled gene in the macular mouse model of Menkes disease. Pediatr Res 42: 436-442, 1997.
25. Niwa H, Yamamura K, and Miyazaki J. Efficient selection for high-expression transfectants with a novel eukaryotic vector. Gene 108: 193-199, 1991.
26. Paynter JA, Grimes A, Lockhart P, and Mercer JFB. Expression of the Menkes gene homologue in mouse tissues lack of effect of copper on the mRNA levels. FEBS Lett 351: 186-190, 1994.
27. Petris MJ and Mercer JFB. The Menkes protein (ATP7A, MNK) cycles via the plasma membrane in basal and elevated extracellular copper using a C-terminal di-leucine endocytic signal. Hum Mol Genet 8: 2107-2115, 1999.
28. Petris MJ, Mercer JFB, Culvenor JG, Lockhart P, Gleeson PA, and Camakaris J. Ligand-regulated transport of the Menkes copper P-type ATPase efflux pump from the Golgi apparatus to the plasma membrane: a novel mechanism of regulated trafficking. EMBO J 15: 6084-6095, 1996.
29. Petris MJ, Strausak D, and Mercer JFB. The Menkes copper transporter is required for the activation of tyrosinase. Hum Mol Genet 9: 2845-2851, 2000.
30. Roelofsen H, Wolters H, Van Luyn MJA, Miura N, Kuipers F, and Vonk RJ. Copper-induced apical trafficking of ATP7B in polarized hepatoma cells provides a mechanism for biliary copper excretion. Gastroenterology 119: 782-793, 2000.
31. Schaefer M, Hopkins RG, Failla ML, and Gitlin JD. Hepatocyte-specific localization and copper-dependent trafficking of the Wilson's disease protein in the liver. Am J Physiol Gastrointest Liver Physiol 276: G639-G646, 1999.
32. Schaefer M, Roelofsen H, Wolters H, Hofmann WJ, Müller M, Kuipers F, Stremmel W, and Vonk RJ. Localization of the Wilson's disease protein in human liver. Gastroenterology 117: 1380-1385, 1999.
33. Tanzi RE, Petrukhin K, Chernov I, Pellequer JL, Wasco W, Ross B, Romano DM, Parano E, Pavone L, Brzustowicz LM, Devoto M, Peppercorn J, Bush AI, Sternlieb I, Pirastu M, Gusella JF, Evgrafov O, Penchaszadeh GK, Honig B, Edelman IS, Soares MB, Scheinberg IH, and Gilliam TC. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet 5: 344-350, 1993.
34. Terada K, Nakako T, Yang XL, Iida M, Aiba N, Minamiya Y, Nakai M, Sakaki T, Miura N, and Sugiyama T. Restoration of holoceruloplasmin synthesis in LEC rat after infusion of recombinant adenovirus bearing WND cDNA. J Biol Chem 273: 1815-1820, 1998.
35. Thomas GR, Forbes JR, Roberts EA, Walshe JM, and Cox DW. The Wilson disease gene: spectrum of mutations and their consequences. Nat Genet 9: 210-217, 1995.
36. Tümer Z, Møller LB, and Horn N. Mutational spectrum of ATP7A, the gene defective in Menkes disease. Adv Exp Med Biol 448: 83-95, 1999.
37. Vulpe C, Levinson B, Whitney S, Packman S, and Gitschier J. Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nat Genet 3: 7-13, 1993.
38. Wang RF and Kushner SR. Construction of versatile low-copy-number vectors for cloning, sequencing and gene expression in Escherichia coli. Gene 100: 195-199, 1991.
39. Yamaguchi Y, Heiny ME, and Gitlin JD. Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease. Biochem Biophys Res Commun 197: 271-277, 1993.