A Golgi localization signal identified in the Menkes recombinant protein

Human Molecular Genetics

Volumn 7, Issue 8, 1998, Pages 1245-1252

  Francis, Michael J ^a   Jones, Emma E ^a   Levy, Elaine R ^a   Ponnambalam, Sreenivasan ^b   Chelly, Jamel ^c   Monaco, Anthony P ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF DUNDEE   (United Kingdom)

^c INSTITUT COCHIN   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; COPPER; RECOMBINANT PROTEIN;

ALTERNATIVE RNA SPLICING; ARTICLE; ENDOPLASMIC RETICULUM; EXON; GOLGI COMPLEX; HUMAN; IMMUNOFLUORESCENCE; MENKES SYNDROME; OPEN READING FRAME; PHENOTYPE; PRIORITY JOURNAL; PROTEIN LOCALIZATION;

MAMMALIA;

EID: 0031877944     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.8.1245     Document Type: Article

References (37)

1. Tonnesen, T., Kleijer, W.J. and Horn, N. (1991) Incidence of Menkes disease. Hum. Genet., 86, 408-410.
2. Danks, D.M., Cartwright, E., Campbell, P.E. and Mayne, V. (1971) Is Menkes' syndrome a heritable disorder of connective tissue? Lancet, 2, 1089.
3. 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.
4. Horn, N., Tonnesen, T. and Turner, Z. (1992) Menkes disease: an X-linked neurological disorder of the copper metabolism. Brain Pathol., 2, 351-362.
5. Haas, R.H., Robinson, A., Evans, K., Lascelles, P.T. and Dubowitz, V. (1981) An X-linked disease of the nervous system with disordered copper metabolism and features differing from Menkes disease. Neurology, 31, 852-859.
6. 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.
7. Danks, D.M., Stevens, B.J., Campkell, P.E., Cartwright, E.C., Gillespie, J.M., Townley, R.R., Blomfield, J., Tumer, B.B., Mayne, V. and Walker Smith, J.A. (1974) Menkes kinky-hair syndrome. An inherited defect in the intestinal absorption of copper with widespread effects. Birth Defects, 10, 132-137.
8. Menkes, J.H. (1988) Kinky hair disease: twenty five years later. Brain Dev., 10, 77-79.
9. Di Mauro, S., Lombes, A., Nakase, H., Mita, S., Fabrizi, G.M., Tritschler, H.J., Bonilla, E., Miranda, A.F., De Vivo, D.C. and Schon, E.A. (1990) Cytochrome c oxidase deficiency. Pediat. Res., 28, 536-541.
10. Hartmann, H.A. and Evenson, M. A. (1992) Deficiency of copper can cause neuronal degeneration. Med. Hypotheses, 38, 75-85.
11. Sparaco, M., Hirano, A., Hirano, M., Di Mauro, S. and Bonilla, E. (1993) Cytochrome C oxidase deficiency and neuronal involvement in Menkes' kinky hair disease: immunohistochemical study. Brain Pathol., 3, 349-354.
12. Chelly, J., Tumer, Z., Tonnesen, T., 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 [see comments]. Nature Genet., 3, 14-19.
13. 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 [see comments] [erratum in Nature Genet., 3, 273, 1993]. Nature Genet., 3, 7-13.
14. Mercer, J.F., Livingston, J., Hall, B., Paynter, J.A., Begy, C., Chandrasekharappa, S., Lockhart, P., Grimes, A., Bhave, M., Siemieniak, D and Glover, T.W. (1993) Isolation of a partial candidate gene for Menkes disease by positional cloning [see comments]. Nature Genet., 3, 20-25.
15. Payne, A.S. and Gitlen, J.D. (1998) Functional expression of the Menkes disease protein reveals common biochemical mechanisms among the copper-transporting P-type ATPases. J. Biol. Chem., 273, 3765-3770.
16. Petris, M.J., Mercer, J.F., 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.
17. 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.
18. Dierick, H.A., Adam, A.N., Escara-Wilke, J.F. and Glover, T.W. (1997) Immunocytochemical localization of the Menkes copper transport protein (ATP7A) to the trans-Golgi network. Hum. Mol. Genet., 6, 409-416.
19. Ladinsky, M.S. and Howell, K.E. (1992) The trans-Golgi network can be dissected structurally and functionally from the cistemae of the Golgi complex by brefeldin A. Eur. J. Cell. Biol., 59, 92-105.
20. Reaves, B., Horn, M. and Banting, G. (1993) TGN38/41 recycles between the cell surface and the TGN: brefeldin A affects its rate of return to the TGN. Mol. Biol. Cell, 4, 93-105.
21. Nilsson, T. and Warren, G. (1994) Retention and retrieval in the endoplasmic reticulum and the Golgi apparatus. Curr. Opin. Cell. Biol., 6, 517-521.
22. Ponnambalam, S., Girotti, M., Yaspo, M.L., Owen, C.E., Perry, A.C., Suganuma, T. Nilsson, T., Fried, M., Banting, G. and Warren, G. (1996) Primate homologues of rat TGN38: primary structure, expression and functional implications. J. Cell Sci., 109, 675-685.
23. Prescott, A.R., Lucocq, J.M., James, J., Lister, J.M. and Ponnambalam, S. (1997) Distinct compartmentalization of TGN46 and beta-1,4-galactosyltransferase in HeLa cells. Eur. J. Cell Biol., 72, 238-246.
24. Ponnambalam, S., Rabouille, C., Luzio, J.P., Nilsson, T. and Warren, G. (1994) The TGN38 glycoprotein contains non-overlapping signals that mediate localisation to the trans-Golgi network. J. Cell Biol., 125, 253-268.
25. Nilsson, T., Lucocq, J.M., Mackay, D. and Warren, G. (1991) The membrane spanning domain of β-1,4-galactosyltransferase specifies trans Golgi localisation. EMBO J., 10, 3567-3575.
26. Munro, S. (1991) Sequences within and adjacent to the transmembrane segment of α-2,6-sialyltransferase specify Golgi retention. EMBO J., 10, 3577-3588.
27. Rommens, J.M., Dho, S., Bear, C.E., Kartner, N., Kennedy, D., Riordan, J.R., Tsui, L.C. and Foskett, J.K. (1991) cAMP-inducible chloride conductance in mouse fibroblast lines stably expressing the human cystic fibrosis transmembrane conductance regulator. Proc. Natl Acad. Sci. USA, 88, 7500-7504.
28. Tumer, 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.
29. Dierick, H.A., Ambrosini, L., Spencer, J., Glover, T.W. and Mercer, J.F. (1995) Molecular structure of the Menkes disease gene (ATP7A). Genomics, 28, 462-169.
30. Nilsson, T., Slusarewicz, P., Hoe, M.H. and Warren, G. (1993) Kin recognition. A model for the retention of Golgi enzymes. FEBS Lett., 330, 1-4.
31. Colley, K.J. (1997) Golgi localization of glycosyltransferases: more questions than answers. Glycobiology, 7, 1-13.
32. Munro, S. (1995) Investigation of the role of transmembrane domains in Golgi protein retention. EMBO J., 19, 4695-4704.
33. Sittler, A., Devys, D., Weber, C. and Mandel, J.L. (1996) Alternative splicing of exon 14 determines nuclear or cytoplasmic localisation of fmrl protein isoforms. Hum. Mol. Genet., 5, 95-102.
34. Bull, A., Zhao, F., Dirkx, R. Jr, Sharma, E., Lukacsi, E., Solimena, M., Naegele, J.R. and Lombroso, P.J. (1996) STEP61: a member of a family of brain-enriched PTPs is localized to the endoplasmic reticulum. J. Neurosci., 16, 7821-7831.
35. Inazu, A., Quinet, E.M., Wang, S., Brown, M.L., Stevenson, S., Barr, M.L., Moulin, P. and Tall, A.R. (1992) Alternative splicing of the mRNA encoding the human cholesteryl ester transfer protein. Biochemistry, 31, 2352-2358.
36. 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.
37. Qi, M. and Byers, P.H. (1998) Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the Menkes protein and produces the Occipital Horn Syndrome. Hum. Mol. Genet., 7, 465-169.