Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the Menkes protein and produces the occipital horn syndrome

Human Molecular Genetics

Volumn 7, Issue 3, 1998, Pages 465-469

  Qi, Ming ^a   Byers, Peter H ^a  

^a UNIVERSITY OF WASHINGTON   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; COPPER;

ADULT; ALTERNATIVE RNA SPLICING; ARTICLE; CASE REPORT; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; EXON; GENE MUTATION; GOLGI COMPLEX; HUMAN; HUMAN CELL; INTRON; MALE; MENKES SYNDROME; OCCIPITAL CORTEX; PRIORITY JOURNAL; PROTEIN LOCALIZATION;

ADENOSINE TRIPHOSPHATASES; ADULT; ALTERNATIVE SPLICING; BASE SEQUENCE; CARRIER PROTEINS; CATION TRANSPORT PROTEINS; COPPER; DNA PRIMERS; EHLERS-DANLOS SYNDROME; EXONS; FEMALE; GOLGI APPARATUS; HUMANS; MALE; MENKES KINKY HAIR SYNDROME; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; RECOMBINANT FUSION PROTEINS; VARIATION (GENETICS);

EID: 0031934417     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.3.465     Document Type: Article

References (31)

1. Lazoff, S.G., Rybak, J.J., Parker, B.R. and Luzzatti, L. (1975) Skeletal dysplasia, occipital horns, diarrhea and obstructive uropathy - a new hereditary syndrome. Birth Defects, 11, 71-74.
2. Byers, P.H., Siegel, R.C., Holbrook, K.A., Narayanan, A.S., Bornstein, P. and Hall, J.G. (1980) X-linked cutis laxa: defective cross-link formation in collagen due to decreased lysyl oxidase activity. N. Engl. J. Med., 303, 61-65.
3. Kuivaniemi, H., Peltonen, L., Palotie, A., Kaitila, I. and Kivirikko, K.I. (1982) Abnormal copper metabolism and deficient lysyl oxidase activity in a heritable connective tissue disorder. J. Clin. Invest., 69, 730-733.
4. Sartoris, D.J., Luzzatti, L., Weaver, D.D., Macfarlane, J.D., Hollister, D.W. and Parker, B.R. (1984) Type IX Ehlers-Danlos syndrome. A new variant with pathognomonic radiographic features. Radiology, 152, 665-670.
5. 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.
6. Chelly, J., Tumer, Z., Tonnesen, T., Petterson, A., Ishikawa, B.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.
7. Mercer, J.F., Livingston, J., Hall, B., Paynter, J.A., Begy, C., Chandrasekharappa, S., Lockhart, P., Grimes, A., Bhave, M., Siemieniak, D. et al. (1993) Isolation of a partial candidate gene for Menkes disease by positional cloning. Nature Genet., 3, 20-25.
8. Levinson, B., Gitschier, J., Vulpe, C., Whitney, S., Yang, S. and Packman, S. (1993) Are X-linked cutis laxa and Menkes disease allelic? Nature Genet., 3, 6.
9. Tumer, Z., Tommerup, N., Tonnesen, T., Kreuder, J., Craig, I.W. and Horn, N. (1992) Mapping of the Menkes locus to Xq13.3 distal to the X-inactivation center by an intrachromosomal insertion of the segment Xq13.3-q21.2. Hum. Genet., 88, 668-672.
10. 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.
11. Tumer, Z., Lund, C., Tolshave, J., Vural, B., Tonnesen, T. and Horn, N. (1997) Identification of point mutations in 41 unrelated patients affected with Menkes disease. Am. J. Hum. Genet., 60, 63-71.
12. 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.
13. 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.
14. Levinson, B., Conant, R., Schnur, R., Das, S., Packman, S. and Gitschier, J. (1996) A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome. Hum. Mol. Genet., 5, 1737-1742.
15. 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.
16. 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.
17. 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.
18. Rothman, J.E. and Wieland, F.T. (1996) Protein sorting by transport vesicles. Science, 272, 227-234.
19. Colley, K.J. (1997) Golgi localization of glycosyltransferases: more questions than answers. Glycobiology, 7, 1-13.
20. Teasdale, R.D., D'Agostaro, G. and Gleeson, P.A. (1992) The signal for Golgi retention of bovine beta 1,4-galactosyltransferase is in the transmembrane domain. J. Biol. Chem., 267, 4084-4096.
21. Dancis, A., Haile, D., Yuan, D.S. and Klausner, R. D. (1994) The Saccharomyces cerevisiae copper transport protein (Ctrlp). Biochemical characterization, regulation by copper, and physiologic role in copper uptake. J. Biol. Chem., 269, 25660-25667.
22. Jungmann, J., Reins, H.A., Lee, J., Romeo, A., Hassett, R., Kosman, D. and Jentsch, S. (1993) MAC1, a nuclear regulatory protein related to Cu-dependent transcription factors is involved in Cu/Fe utilization and stress resistance in yeast. EMBO J., 12, 5051-5056.
23. Zhou, B. and Gitschier, J.G. (1997) hCTR1: a human gene for copper uptake identified by complementation in yeast. Proc. Natl Acad. Sci. USA, 94, 7481-7486.
24. Amaravadi, R., Glerum, D.M. and Tzagoloff, A. (1997) Isolation of a cDNA encoding the human homolog of COX17, a yeast gene essential for mitochondrial copper recruitment. Hum. Genet., 99, 329-333.
25. Vulpe, C.D. and Packman, S. (1995) Cellular copper transport. Annu. Rev. Nutr., 15, 293-322.
26. Danks, D.M. (1995) Disorders of copper transport. In Scriver, C.R., Beaudet, A.L., Sly, W.S. and Valle, D. (eds), The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill, Inc., Vol. 2, pp. 2211-2236.
27. Kodama, H., Okabe, I., Yanagisawa, M. and Kodama, Y. (1989) Copper deficiency in the mitochondria of cultured skin fibroblasts from patients with Menkes syndrome. J. Inherited Metab. Dis., 12, 386-389.
28. Crapo, J.D., Oury, T., Rabouille, C., Slot, J.W. and Chang, L.Y. (1992) Copper,zinc Superoxide dismutase is primarily a cytosolic protein in human cells. Proc. Natl Acad. Sci. USA, 89, 10405-10409.
29. Janssens, A.R., Bosman, F.T., Ruiter, D.J. and Van den Hamer, C.J. (1984) Immunohistochemical demonstration of the cytoplasmic copper-associated protein in the liver in primary biliary cirrhosis: its identification as metallothionein. Liver, 4, 139-147.
30. Janssens, A.R., Van Noord, M.J., Van Hoock, C.J., Ruiter, D.J., Mauw, B.J. and Van den Hamer, C.J. (1984) The lysosomal copper concentration in the liver in primary biliary cirrhosis. Liver. 4, 396-401.
31. Qi, M., Hamilton, B.J. and DeFranco, D. (1989) v-mos oncoproteins affect the nuclear retention and reutilization of glucocorticoid receptors. Mol. Endocrinol., 3, 1279-1288.