The mottled mouse as a model for human Menkes disease: Identification of mutations in the Atp7a gene

Human Molecular Genetics

Volumn 6, Issue 3, 1997, Pages 425-433

  Cecchi, Chiara ^a   Biasotto, Michel ^a   Tosi, Mario ^a   Avner, Philip ^a  

^a INSTITUT PASTEUR   (France)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA;

ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BASE MISPAIRING; GENE MUTATION; GENETIC TRANSCRIPTION; MENKES SYNDROME; MISSENSE MUTATION; MOUSE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; RNA SPLICING; SEQUENCE HOMOLOGY;

ADENOSINE TRIPHOSPHATASES; ANIMALS; CARRIER PROTEINS; CATION TRANSPORT PROTEINS; COPPER; DISEASE MODELS, ANIMAL; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; ELECTROPHORESIS, POLYACRYLAMIDE GEL; EMBRYO; FLUORESCENCE; HETEROZYGOTE; HUMANS; MENKES KINKY HAIR SYNDROME; MICE; MUTATION; PHENOTYPE; POLYMORPHISM, GENETIC; RECOMBINANT FUSION PROTEINS; RNA, MESSENGER; SEQUENCE ANALYSIS; SEQUENCE DELETION; TRANSCRIPTION, GENETIC;

EID: 0031052386     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.3.425     Document Type: Article

References (53)

1. Petris, M.J., Mercer, J.F.B., Culvenor, J.G., Lockhart, P., Gleeson, P.A. and Camakaris, J. (1996) 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.
2. Yamaguchi, Y., Heiny, M.E., Suzuki, M. and Gitlin, J.D. (1996) Biochemical characterization and intracellular localization of the Menkes disease protein. Proc. Natl Acad. Sci. USA, 93, 14030-14035.
3. Bull, P.C.,Thomas, G.R., Rommens, J.M., Forbes, J.R. and Cox, D.W. (1993) The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nature Genet., 5, 327-337.
4. Petrukhin, K., Fischer, S.G., Pirastu, M., Tanzi, R.E., Chernov, I., Devoto, M., Brzutowicz, L.M., Cayanis, E., Vitale, E., Russo, J.J., Matseoane, D., Boukhgalter, B., Wasco, W., Figus, A.L., Loudianos, J., Cao, A., Sternlieb, I., Evgrafov, O., Parano, E., Pavone, L., Warburton, D., Ott, J., Penchaszadeh, G.K., Scheinberg, I.H. and Gilliam, T.C. (1993) Mapping, cloning and genetic characterization of the region containing the Wilson disease gene. Nature Genet., 5, 338-343.
5. Chelly, J., Tümer, Z., Tonnesen, R., Petterson, A., Ishikawa-Brush, Y., Tommerup, N., Horn, N. and Monaco, A.P. (1993) Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein. Nature Genet., 3, 14-19.
6. Mercer, J.F.B., Livingston, J., Hall, B., Paynter, J.A., Begy, C., Chandrasekharappa, S., Lockjart, P., Grimes, A., Bhave, M., Siemieniak, C. and Glover, T. (1993) Isolation of a partial candidate gene for Menkes disease by positional cloning. Nature Genet., 3, 20-25.
7. Vulpe, C., Levinson, B., Whitney, S., Packman, S. and Gitschier, J. (1993) Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nature Genet., 3, 7-13.
8. Menkes, J.H., Alter, M., Steigleder, G.K., Weakley, D.R. and Sung, J.H. (1962) A sex-linked recessive disorder with retardation of growth, peculiar hair and focal cerebral and cerebellar degeneration. Pediatrics, 29, 764-779.
9. Lazoff, S.G., Rybak, J.J., Parker, B.R. and Luzzatti, L. (1975) Skeletal dysplasia, occipital horns, diarrhoea and obstructive uropathy - a new hereditary syndrome. Birth Defects, 11, 71-74.
10. Turner, Z., Vural, B., Tonnesen, T., Chelly, J., Monaco, A.P. and Horn, N. (1995) Characterization of the exon structure of the Menkes disease gene using vectorette PCR. Genomics, 26, 437-442.
11. Dierick, H.A., Ambrosini, L., Spencer, J., Glover, T.W. and Mercer, J.F.B. (1995) Molecular structure of the Menkes disease gene (ATP7A). Genomics, 28, 462-469.
12. Camakaris, J., Petris, M.J., Bailey, L., Shen, P., Lockhart, P., Glover, T.W., Barcroft, C.L., Patton, J. and Mercer, J.F.B. (1995) 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.
13. Silver, S., Nucifora, G. and Phung, L. T. (1993) Human Menkes X-chromosome disease and the staphylococcal cadmium-resistance ATPase: a remarkable similarity in protein sequences. Mol. Biol., 10, 7-12.
14. Dancis, A., Yuan, D.S., Haile, D., Askwith, C., Eide, D., Moehle, C., Kaplan, J. and Klausner, R.D. (1994) Molecular characterisation of a copper transport protein in S.cerevisiae: an unexpected role for copper in iron transport. Cell, 76, 393-402.
15. Tanzi, R.E., Petrikhin, K., Chemov, I., Pellequer, J.L., Wasco, W., Ross, B., Romano, D.M., Parano, L., Pavone, L., Brzustowicz, L.M., Devoto, M., Peppercorn, J., Bush, A.I., Sternlieb, I., Pirastu, M.G.J.F., Evgrafov, O., Penchaszadeh,G. K., Honig, B.,Edelman, I.S., Soares, M.B., Scheinberg, I.H. and Gilliam, T.C. (1993) The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Genetics, 5, 344-350.
16. Levinson, B., Vulpe, C., Elder, B., Martin, C., Verley, F., Packman, S. and Gitschier, J. (1994) The mottled gene is the mouse homologue of the Menkes disease gene. Nature Genet., 6, 369-373.
17. Mercer, J.F.B., Grimes, A., Ambrosini, L., Lockhart, P., Paynter, J.A., Dierick, H. and Glover, T.W. (1994) Mutations in the murine homologue of the Menkes gene in dappled and blotchy mice. Nature Genet., 6, 374-378.
18. Cecchi, C. and Avner, P. (1996) Genomic organization of the mottled gene, the mouse homologue of the human Menkes disease gene. Genomics, 37, 96-104.
19. Fraser, A.S., Sobey S. and Spicer, C.C. (1953) Mottled, a sex-modified lethal in the house mouse. J. Genet. 51, 217-221.
20. Hunt, D.M. (1974) Primary defect in copper transport underlies mottled mutants in the mouse. Nature, 249, 852-853.
21. Darwish, H.M., Hoke, J.E. and Ettinger, M.J. (1983) Kinetics of Cu(II) transport and accumulation by hepatocytes from copper-deficient mice and the brindled mouse model of Menkes disease. J. Biol. Chem., 258, 13621-13626.
22. Brown, R.M., Camakaris, J. and Danks, D.M. (1984) Observations of the Menkes' and Brindled mouse phenotypes in cell hybrids. Somat. Cell Mol. Genet., 10, 321-330.
23. Dickie, M.M. (1954) The tortoise shell house mouse. J. Hered., 45, 158-159.
24. Phillips, R.J.S. (1956) Research news: mutants. Mouse News Lett., 15, 28.
25. Russell, L.B. (1960) Research news: mutants. Mouse News Lett., 23, 58.
26. Lyon, M.F. (1960) A further mutation of the mottled type. J. Hered., 51, 116-121.
27. Krzanowska, H. (1966) New mutant. Mouse News Lett., 35, 34.
28. Cattanach, B.M. (1968) New mutants. Mouse News Lett., 38, 17.
29. Lane, P.W. et al. (1978) New mutant. Mouse News Lett., 58, 47.
30. Rasberry, C. and Cattanach, B.M. (1993) Research news: three new mottled mutations. Mouse Genome, 91, 851-853.
31. Sweet (1993) Mouse Genome, 91, 862.
32. George, A.M., Reed V., Glenister, P., Chelly, J.,Tumer, Z., Horn, N., Monaco, A. P. and Boyd, Y. (1994) Analysis of MNK, the murine homologue of the locus for Menkes disease, in normal and mottled (Mo) mice. Genomics, 22, 27-35.
33. Das, S., Levinson, B., Vulpe, C., Whitney, S., Gitschier, J. and Packman, S. (1995) Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse. Am. J. Hum. Genet., 56, 570-576.
34. Cattanach, B.M. and Williams, C.E. (1972) Evidence of non-random X-chromosome activity in the mouse. Genet. Res. Camb., 19, 229-240.
35. Bedell, M.A., Jenkins, N.A. and Copeland, N.G. (1996) Good genes in bad neighbourhoods. Nature Genet., 12, 229-232.
36. Verpy, E., Biasotto, M., Meo, T. and Tosi, M. (1994) Efficient detection of point mutations on color-coded strands of target DNA. Proc. Natl Acad. Sci. USA, 91, 1873-1877.
37. Das, S., Levinson, B., Whitney, S., Vulpe, C., Packman, S. and Gitschier, J. (1994) Diverse mutations in patients with Menkes disease often lead to exon skipping. Am. J. Hum. Genet., 55, 883-889.
38. Silver, S., Nucifora, G., Chu, L. and Misra, T.K. (1989) Bacterial resistance ATPases: primary pumps for exporting toxic cations and onions. Trends Biochem Sci., 14, 76-80.
39. Phung, L.T., Ajlani, G. and Haselkorn, R. (1994) P-type ATPase from the cyanobacterium Synechoccus 7942 related to the human Menkes and Wilson disease gene products. Proc. Natl Acad. Sci. USA, 91, 9651-9654.
40. Kaler, S.G., Gallo, L.K., Proud, V.K., Percy, A.K., Mark, Y., Segal, N.A., Goldstein, D.S., Holmes, C.S. and Gahl, W.A. (1994) Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. Nature Genet., 8, 195-202.
41. Petrukhin, K., Lutsenko, S., Chernov, I., Ross, B.M., Kaplan, J.H. and Gilliam, T.C. (1994) Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing and structure/function predictions. Hum. Mol. Genet., 3, 1647-1656.
42. Cattanach, B.M., Burtenshaw, M.D., Rasberry, C. and Evans, E.P. (1993) Large deletions and other gross forms of chromosome imbalance compatible with viability and fertility in the mouse. Nature Genet., 3, 56-61.
43. Cattanach, B.M., Rasberry, C., Evans, E.P., Dandolo, L., Simmler, M.C. and Avner, P. (1991) Genetic and molecular evidence of an X-chromosome deletion spanning the tabby (Ta) and testicular feminization (Tfm) loci in the mouse. Cytogenet. Cell. Genet., 56, 137-143.
44. Lichtenauer-Kaligis, E.G., Thijssen, J.C., den Dulk, H., van de Putte, P., Giphart-Gassler, M. and Tasseron-de Jong, J.G. (1995) Spontaneous mutation spectrum in the hprt gene in human lymphoblastoid TK6 cells. Mutagenesis, 10, 137-143.
45. Tuchman, M. and Plante, R.J. (1995) Mutations and polymorphisms in the human ornithine transcarbamylase gene: mutation update addendum. Hum Mutat., 5, 293-295.
46. Thomas, G.R., Forbes J.R., Roberts E.A., Walshe, J.M. and Cox, D.W. (1995) The Wilson disease gene: spectrum of mutations and their consequences. Nature Genet., 9, 210-217.
47. Waldenström, E., Lagerkvist, A., Dahlman, T., Westermark, K. and Landegren, U. (1996) Efficient detection of mutations in Wilson disease by manifold sequencing. Genomics, 37, 303-309.
48. Youil, R., Kemper, B.W. and Cotton, R.G. (1995) Screening for mutations by enzyme mismatch cleavage with T4 endonuclease VII. Proc. Natl Acad. Sci. USA, 92, 87-91.
49. Auffray, C. and Rougeon, F. (1980) Purification of mouse immunoglobulin heavy-chain messenger RNAs from total myeloma tumor RNA. Eur. J. Biochem., 107, 303-314.
50. Verpy, E., Biasotto, M., Brai, M., Misiano, G., Meo, T. and Tosi, M. (1996) Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angioedema. Am. J. Hum. Genet., 59, 308-319.
51. Biasotto, M., Meo, T., Tosi, M. and Verpy, E. (1996) FAMA: fluorescence-assisted mismatch analysis by chemical cleavage. In Landegren U. (ed.), Laboratory Protocols for Mutation Detection. Oxford University Press, Oxford, pp. 54-60.
52. Sanger, F., Nicklen, S. and Coulson, A.R. (1977) DNA sequencing with chain terminating inhibitors. Proc. Natl Acad. Sci. USA, 77, 5463-5467.
53. Reed, V. and Boyd, Y. (1997) Mutation analysis provides additional proof that mottled is the mouse homologue of Menkes disease. Hum. Mol. Genet. 6, 417-423.