Alterations in the expression of the Atp7a gene in the early postnatal development of the mosaic mutant mice (Atp7amo-ms) - An animal model for Menkes disease

Gene Expression Patterns

Volumn 11, Issue 1-2, 2011, Pages 41-47

  Lenartowicz, Małgorzata ^a   Starzyński, Rafał ^b   Wieczerzak, Krzysztof ^a   Krzeptowski, Wojciech ^a   Lipiński, Paweł ^b   Styrna, Józefa ^a  

^a JAGIELLONIAN UNIVERSITY   (Poland)

^b INSTITUTE OF GENETICS AND ANIMAL BREEDING   (Poland)

Author keywords

ATP7A; Copper metabolism; Cu transporting ATPase; Menkes disease; Metalloproteins; Mottled mice

Indexed keywords

COPPER; MENKES PROTEIN;

ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BRAIN LEVEL; COPPER METABOLISM; GENE EXPRESSION; KIDNEY; LIVER LEVEL; MALE; MENKES SYNDROME; MOSAICISM; MOUSE; MOUSE MUTANT; NEWBORN; NONHUMAN; POSTNATAL DEVELOPMENT; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; STRAIN DIFFERENCE; WILD TYPE;

ADENOSINE TRIPHOSPHATASES; ANIMALS; ANIMALS, NEWBORN; ANIMALS, SUCKLING; BRAIN; CATION TRANSPORT PROTEINS; COPPER; DISEASE MODELS, ANIMAL; FEMALE; GENE EXPRESSION; HUMANS; KIDNEY; LIVER; MALE; MENKES KINKY HAIR SYNDROME; MICE; MUTATION; ORGAN SPECIFICITY;

ANIMALIA; MAMMALIA; MUS;

EID: 79951681655     PISSN: 1567133X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.gep.2010.09.001     Document Type: Article

References (60)

1. C. Cecchi, and P. Avner Genomic organization of the mottled gene, the mouse homologue of the human Menkes disease gene Genomics 37 1996 96 104 (Pubitemid 26341839)
2. C. Cecchi, M. Bissotto, M. Tosi, and P. Avner The mottled mouse as a model for human Menkes disease: identification of mutations in the Atp7a gene Hum. Molec. Genet. 6 1997 425 433 (Pubitemid 27116463)
3. D.J. Czachor, M.G. Cherian, and J. Koropatnick Reduction of copper and metallotionein in toxic milk mice by tetratiomolybdate, but not deferiprone J. Inorg. Biochem. 88 2002 213 222 (Pubitemid 34136083)
4. S. Das, B. Levinson, S. Whitney, Ch. Vulpe, S. Packman, and J. Gitshier Diverse mutations in patients with Menkes disease often lead to exon skipping Am. J. Hum. Genet. 55 1994 883 889 (Pubitemid 24334279)
5. P. De Bie, P. Muller, C. Wijmenga, and L.W.J. Klomp Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes J. Med. Genet. 44 2007 637 688
6. R. El Meskini, K.L. Crabtree, L.B. Cline, R.E. Mains, B.A. Eipper, and G.V. Ronnett ATP7A (Menkes protein) functions in axonal targeting and synaptogenesis Mol. Cell. Neurosci. 34 2007 409 421 (Pubitemid 46330045)
7. A. Gajewska, B. Gajkowska, B. Pajk, J. Styrna, and K. Kochman Impaired growth hormone-releasing hormone neurons ultrastructure and peptide accumulation in the arcuate nucleus of mosaic mice with altered copper metabolism Brain Res. Bull. 80 2009 128 132
8. B. Gajkowska, U. Wojewódzka, A. Gajewska, J. Styrna, J. Jurkiewicz, and K. Kochman Growth hormone cell phagocytosis in adenohypophysis of mosaic mice: morphological and immunocytochemical electron microscopy study Brain Res. Bull. 70 2006 94 98 (Pubitemid 43796307)
9. A. Grimes, C.J. Hearn, P. Lockhart, D.F. Newgreen, and J.F. Mercer Molecular basis of the brindled mouse mutant (Mo(br)): a murine model of Menkes disease Hum. Molec. Genet. 6 1997 1037 1042 (Pubitemid 27308387)
10. A.A. Gybina, and J.R. Prohaska Variable response of selected cuproproteins in rat choroid plexus and cerebellum following perinatal copper deficiency Genes Nutr. 1 2006 51 59
11. B. Hardman, A. Michalczyk, M. Greenough, J. Camakaris, J. Mercer, and L. Ackland Distinct functional roles for the Menkes and Wilson copper translocating P-type ATPases in human placental cells Cell. Physiol. Biochem. 20 2007 1073 1084 (Pubitemid 350059713)
12. K. Heydron, E. Damagaed, N. Horn, T. Tonnesen, H. Mussalo-Rauhama, and I. Kaitila Comparison of trace element distribution in occipital horn syndrome and Menkes disease with normal subject by neutron activation analysis J. Trace Elem. Exp. Med. 8 1995 241 247 (Pubitemid 26149724)
13. G. Hsi, and D.W. Cox A comparison of mutation spectra of Menkes disease and Wilson disease Human Genet. 114 2004 165 172 (Pubitemid 38195343)
14. D. Huster, M.J. Finegold, C.T. Morgan, J.L. Burkhead, R. Nixon, S.M. Vanderwerf, C.T. Gilliam, and S. Lutsenko Consequences of copper accumulation in the livers of the Atp7b -/- (Wilson disease gene) knockout mice Am. J. Pathol. 168 2006 423 434 (Pubitemid 43271141)
15. T. Iwase, M. Nishimura, H. Sigimura, H. Igarashi, F. Ozawa, K. Shinmura, M. Suzuki, M. Tanaka, and I. Kino Localization of Menkes gene expression in the mouse brain; its association with neurological manifestation in Menkes model mice Acta Neuropathol. 91 1996 482 488 (Pubitemid 26133659)
16. T. Kasama, and H. Tanaka Effects of oral copper administration to pregnant heterozygous brindled mice on faetal viability and copper levels J. Nutr. Sci. Vitaminol. 35 1989 627 638 (Pubitemid 20174411)
17. B.X. Ke, R.M. Llanos, M. Wright, Y. Deal, and J.F.B. Mercer Alteration of copper physiology in mice overexpressing the human Menkes protein ATP7A Am. J. Physiol. Regul. Integr. Comp. Physiol. 290 2006 R-1460 R-1467
18. B.E. Kim, and M.J. Petris Phenotypic diversity of Menkes disease in mottled mice is associated with defects in localization and trafficking of the ATP7A protein J. Med. Genet. 44 2007 641 646 (Pubitemid 47584758)
19. J.B. Kirby, D.M. Danks, G.J.F. Legge, and J.F.B. Mercer Analysis of the distribution of Cu, Fe and Zn and other elements in brindled mouse kidney using a scanning proton microprobe J. Inorg. Biochem. 71 1998 189 197 (Pubitemid 28531539)
20. D. Klein, P. Scholz, G.A. Drasch, J. Müller-Höcker, and K.H. Summer Metallothionein, copper and zinc in fetal and neonatal human liver: changes during development Toxicol. Lett. 56 1991 61 67
21. H. Kodama, Y. Murata, and M. Kobayashi Clinical manifestation and treatment of Menkes disease and its variants Pediatr. Int. 41 1999 423 429 (Pubitemid 29376990)
22. Y.M. Kuo, J. Gitshier, and S. Packman Developmental expression of the mouse mottled and toxic milk genes suggest distinct functions for the Menkes and Wilson disease copper transporters Hum. Molec. Genet. 6 1998 1043 1049 (Pubitemid 27308388)
23. S. La Fontaine, M.B. Theophilios, S.D. Firth, R. Gould, R.G. Porton, and J.F.B. Mercer Effect of the toxic milk mutation (tx) on the function and intracellular localization of the Wnd, the murine homologue of the Wilson copper ATPase Hum. Molec. Genet. 10 2001 361 370 (Pubitemid 32166547)
24. S. La Fontaine, and J.F.B. Mercer Trafficking of the copper-ATPases, ATP7A and ATP7B: Role in copper homeostasis Arch. Biochem. Biophys. 463 2007 149 167 (Pubitemid 47030343)
25. S. La Fontaine, S.D. Firth, P.J. Lockhart, H. Brooks, J. Camacaris, and J.F. Mercer Intracellular localization and loss of copper responsiveness of Mnk, the murine homology of the Menkes protein, in cells from blotchy (Moblo) and brindled (Mobr) mouse mutants Hum. Molec. Genet. 8 1999 1069 1075 (Pubitemid 29250895)
26. M. Lenartowicz, and K. Sasula Altered copper metabolism in the Mosaic mutant mice Nutr. Res. 10 2000 1519 1529
27. M. Lenartowicz, K. Sasuła, and B. Zawadowska Alterations in kidney morphology and histology of mice with mosaic mutation Folia Histochem. Cytobiol. 39 2001 275 281 (Pubitemid 32700501)
28. M. Lenartowicz, M. Kowal, D. Buda-Lewandowska, and J. Styrna Pathological structure of the kidney from the adult mice with mosaic mutation J. Inher. Metabol. Dis. 26 2003 1 13
29. M. Lenartowicz, P. Grzmil, M. Rusin, and J. Styrna Alternative splicing in the Atp7a gene in Cu deficient mosaic mutation in mice Folia Biol. (Krakow) 52 2004 219 223 (Pubitemid 40063763)
30. M. Lenartowicz, R. Windak, G. Tylko, M. Kowal, and J. Styrna Effects of copper supplementation on the structure and content of elements in kidneys of mosaic mutant mice Biol. Trace Elem. Res. 136 2010 204 220
31. M. Lenartowicz, K. Wieczerzak, W. Krzeptowski, P. Dobosz, P. Grzmil, R. Starzynski, and P. Lipinski Developmental changes in the expression of Atp7a gene in the liver of mice during the postnatal period J. Exp. Zool. 313 2010 209 217
32. B. Levinson, C. Vulpe, B. Elder, C. Martin, F. Verley, S. Packman, and J. Gitschier The mottled gene is the mouse homologue of the Menkes disease gene Nat. Genet. 6 1994 369 373 (Pubitemid 24190020)
33. R. Linz, N.L. Barnes, A.M. Zimnicka, J.H. Kaplan, B. Eipper, and S. Lutsenko Intracellular targeting of copper-transporting ATPase ATP7A in a normal and Atp7b -/- kidney Am. J. Physiol. Renal Physiol. 294 2008 F53 F61
34. R.M. Llanos, B.X. Ke, M. Wright, Y. Deal, F. Monty, D.R. Kremer, and J.F. Mercer Correction of a mouse model of human Menkes disease by human Menkes gene Biochim. Biophys. Acta 1762 2006 485 493 (Pubitemid 43344311)
35. S. Lutsenko, N.L. Barnes, M.Y. Bartee, and O.Y. Dymitriev Function and regulation of human copper-transporting ATPases Physiol. Rev. 87 2007 1011 1046 (Pubitemid 47084675)
36. E.C. Madsen, P.A. Morcos, B.A. Mendelsohn, and J.D. Gitlin In vivo correction of a Menkes disease model using antisense oligonucleotides PNAS 105 2008 3909 3914 (Pubitemid 351723498)
37. J.F.B. Mercer, A. Grimes, L. Ambrosini, P. Lockhart, J.A. Paynter, H. Dierick, and T.W. Glover Mutations in the murine homologue of the Menkes disease gene in dappled and blotchy mice Nat. Genet. 6 1994 374 378 (Pubitemid 24190021)
38. J.F. Mercer, A. Grimes, and H. Rauch Hepatic metallothionein gene expression in toxic milk mice J. Nutr. 122 1992 1254 1259
39. J.F. Mercer, and R.M. Llanos Molecular and cellular aspects of copper transport in developing mammals J. Nutr. Suppl. 2003 1481S 1484S (Pubitemid 36548731)
40. L.B. Moller, Z. Tumer, C. Lund, C. Petersen, T. Cole, R. Hanunsch, J. Seindel, L.R. Jensen, and N. Horn Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome Am. J. Hum. Genet. 66 2000 1211 1220 (Pubitemid 30468778)
41. A. Morita, M. Kimura, and Y. Itokawa The effect of aging on the mineral status of female mice Biol. Trace Elem. Res. 42 1994 165 177 (Pubitemid 24266342)
42. K.T. Nelson, and J.R. Prohaska Copper deficiency in rodents alters dopamine beta-mono-oxygenase activity, mRNA and protein level Br. J. Nutr. 102 2009 18 28
43. M.J. Niciu, X.M. Ma, R.E. Meskini, G.V. Ronnett, R.E. Mains, and B.A. Eipper Developmental changes in the expression of the Atp7a during a critical period in postnatal neurodevelopment Neuroscience 139 2006 947 964 (Pubitemid 44308090)
44. M.J. Niciu, X.M. Ma, R.E. Meskini, J.S. Pachter, R.E. Mains, and B.A. Eipper Altered ATP7A expression and other compensatory responses in a murine model of Menkes disease Neurobiol. Dis. 27 2007 278 291 (Pubitemid 47334957)
45. T. Oshio, M. Hino, A. Krino, C. Matsumara, and K. Fukuda Urologic abnormalities in Menkes Kinky Hair disease: report of three cases J. Pediatr. Sur. 32 1997 782 784 (Pubitemid 27220391)
46. M.W. Pfaffl A new mathematical model for relative quantification in real-time RT-PCR Nucleic Acids Res. 29 2001 2002 2007
47. M. Philips, J. Camakaris, and D.M. Danks A comparison of phenotype and copper distribution in blotchy and brindled mutant mice and in nutritionally copper deficient controls Biol. Trace Elem. Res. 29 1991 11 29
48. J.R. Prohaska Neurological roles of copper as antioxidant or prooxidant Connor Metals and Oxidative Damage in Neurological Disorders 1997 Plenum Press New York 57 74
49. J.R. Prohaska, and W.R. Bailey Persistent neurochemical changes following perinatal copper deficiency in rats Nutr. Biochem. 6 1995 275 280
50. J.R. Prohaska, and K. Broderius Plasma peptidylglycine alpha-amidating monooxygenase (PAM) and ceruloplasmin are affected by age and copper status in rats and mice Comp. Biochem. Physiol. B Biochem. Mol. Biol. 143 2006 360 366 (Pubitemid 43288151)
51. M.C.M. Reddy, and E.D. Harris Multiple transcript coding for the Menkes gene: evidence for alternative splicing of Menkes mRNA Biochem. J. 334 1998 71 77 (Pubitemid 28420973)
52. V. Reed, and Y. Boyd Mutation analysis provides additional proof that mottled is the mouse homologue of Menkes disease Hum. Molec. Genet. 6 1997 417 423 (Pubitemid 27116462)
53. N. Shiraishi, K. Aono, and T. Tagauchi Copper metabolism in the macular mutant mouse: an animal model of Menkes Kinky-Hair disease Bio. Neonate 54 1988 173 180
54. D.A.C. Simpson, S. Feeney, C. Boyle, and A.W. Sitt Retinal VEGF mRNA measured by SYBR green I fluorescence. A versatile approach to quantitative PCR Mol. Vis. 6 2000 178 183
55. J. Styrna Analysis of causes of lethality in mice with the Ms (Mosaic) gene Genet. Polon. 18 1977 61 79 (Pubitemid 8085159)
56. M. Suzuki-Kurasaki, M. Okabe, and M. Kurasaki Copper-metallotionein in the kidney of macular mice: a model for Menkes disease J. Histochem. Cytochem. 45 1997 1493 1501 (Pubitemid 27465470)
57. M. Suzuki, and J.D. Gitlin Intracellular localization of Menkes and Wilson disease proteins and their intracellular copper transport Pediatr. Int. 41 1999 430 435
58. C. Wijmenga, and L.W.J. Klomp Molecular regulation of copper extraction in the liver Proc. Nutr. Soc. 63 2004 31 39 (Pubitemid 38543871)
59. A.S. Woolf The kidney Embryos, Genes and Birth Defect 1997 John Wiley & Sons Ltd. 303 326
60. M. Zaffanello, C. Maffeis, V. Fanos, M. Franchini, and G. Zamboni Urological complication and copper replacement in childhood Menkes syndrome Acta Pediatr. 95 2006 785 790 (Pubitemid 44261735)