Missense mutations in ABCG5 and ABCG8 disrupt heterodimerization and trafficking

Journal of Biological Chemistry

Volumn 279, Issue 23, 2004, Pages 24881-24888

  Graf, Gregory A ^a   Cohen, Jonathan C ^a,b   Hobbs, Helen H ^a  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^b UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINETRIPHOSPHATE; CELLS; DIMERIZATION; DISEASES; MUTAGENESIS;

ATHEROSCLEROSIS; MUTATIONS;

BIOCHEMISTRY;

ABC TRANSPORTER; ABC TRANSPORTER G5; ABC TRANSPORTER G8; ASPARAGINE; CALNEXIN; CHAPERONE; LECTIN; MUTANT PROTEIN; SITOSTEROL; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; ATHEROSCLEROSIS; AUTOSOMAL RECESSIVE DISORDER; CELL TRANSPORT; CHO CELL; DIMERIZATION; ENDOPLASMIC RETICULUM; GLYCOSYLATION; GOLGI COMPLEX; HYPERLIPIDEMIA; MISSENSE MUTATION; MOUSE; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FOLDING; PROTEIN TRANSPORT; SITE DIRECTED MUTAGENESIS; SITOSTEROLEMIA;

AMINO ACID SEQUENCE; ANIMALS; ASPARAGINE; ATP-BINDING CASSETTE TRANSPORTERS; BIOLOGICAL TRANSPORT; CALNEXIN; CHO CELLS; CRICETINAE; DIMERIZATION; ELECTROPHORESIS, POLYACRYLAMIDE GEL; ENDOPLASMIC RETICULUM; GLYCOSYLATION; GOLGI APPARATUS; HUMANS; LECTINS; LIPOPROTEINS; MICE; MODELS, BIOLOGICAL; MOLECULAR SEQUENCE DATA; MUTAGENESIS, SITE-DIRECTED; MUTATION; MUTATION, MISSENSE; PRECIPITIN TESTS; PROTEIN BINDING; PROTEIN FOLDING; PROTEIN TRANSPORT; SEQUENCE HOMOLOGY, AMINO ACID; TRANSFECTION;

ANIMALIA;

EID: 2642573588     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.M402634200     Document Type: Article

References (43)

1. Berge, K. E., Tian, H., Graf, G. A., Yu, L., Grishin, N. V., Schultz, J., Kwiterovich, P., Shan, B., Barnes, R., and Hobbs, H. H. (2000) Science 290, 1771-1775
2. Lee, M. H., Lu, K., Hazard, S., Yu, H., Shulenin, S., Hidaka, H., Kojima, H., Allikmets, R., Sakuma, N., Pegoraro, R., Srivastava, A. K., Salen, G., Dean, M., and Patel, S. B. (2001) Nat. Genet. 27, 79-83
3. Salen, G., Shefer, S., Nguyen, L., Ness, G. C., Tint, G. S., and Shore, V. (1992) J. Lipid Res. 33, 945-955
4. Yu, L., Li-Hawkins, J., Hammer, R. E., Berge, K. E., Horton, J. D., Cohen, J. C., and Hobbs, H. H. (2002) J. Clin. Invest. 110, 671-680
5. Yu, L., Hammer, R. E., Li-Hawkins, J., von Bergmann, K., Lutjohann, D., Cohen, J. C., and Hobbs, H. H. (2002) Proc. Natl. Acad. Sci. U. S. A. 99, 16237-16242
6. Yu, L., York, J., von Bergmann, K., Lutjohann, D., Cohen, J. C., and Hobbs, H. H. (2003) J. Biol. Chem. 278, 15565-15570
7. Plosch, T., Kok, T., Bloks, V. W., Smit, M. J., Havinga, R., Chimini, G., Groen, A. K., and Kuipers, F. (2002) J. Biol. Chem. 277, 33870-33877
8. Miettinen, T. A. (1980) Eur. J. Clin. Invest. 10, 27-35
9. Salen, G., Shore, V., Tint, G. S., Forte, T., Shefer, S., Horak, I., Horak, E., Dayal, B., Nguyen, L., and Batta, A. K. (1989) J. Lipid Res. 30, 1319-1330
10. Lutjohann, D., Bjorkhem, I., Beil, U. F., and von Bergmann, K. (1995) J. Lipid Res. 36, 1763-1773
11. Graf, G. A., Li, W.-P., Gerard, R. D., Gelissen, I., White, A., Cohen, J. C., and Hobbs, H. H. (2002) J. Clin. Invest. 110, 659-669
12. Kok, T., Wolters, H., Bloks, V. W., Havinga, R., Jansen, P. L., Staels, B., and Kuipers, F. (2003) Gastroenterology 124, 160-171
13. Kamisako, T., and Ogawa, H. (2003) Hepatol. Res. 26, 348-352
14. Kaneko, E., Matsuda, M., Yamada, Y., Tachibana, Y., Shimomura, I., and Makishima, M. (2003) J. Biol. Chem. 278, 36091-36098
15. Khovidhunkit, W., Moser, A. H., Shigenaga, J. K., Grunfeld, C., and Feingold, K. R. (2003) J. Lipid Res. 44, 1728-1736
16. Repa, J. J., Berge, K. E., Pomajzl, C., Richardson, J. A., Hobbs, H., and Mangelsdorf, D. J. (2002) J. Biol. Chem. 277, 18793-18800
17. Pollner, R., Schmidt, C., Fischer, G., Kuhn, K., and Poschl, E. (1997) FEBS Lett. 405, 31-36
18. Trappe, R., Doenecke, D., and Albig, W. (1999) Biochim. Biophys. Acta 1446, 341-351
19. Ikeda, S., Mochizuki, A., Sarker, A. H., and Seki, S. (2000) Biochem. Biophys. Res. Commun. 273, 1063-1068
20. Graf, G. A., Yu, L., Li, W. P., Gerard, R., Tuma, P. L., Cohen, J. C., and Hobbs, H. H. (2003) J. Biol. Chem. 278, 48275-48282
21. Aridor, M., and Hannan, L. A. (2000) Traffic 1, 836-851
22. Aridor, M., and Hannan, L. A. (2002) Traffic 3, 781-790
23. Johnston, J. A., Ward, C. L., and Kopito, R. R. (1998) J. Cell Biol. 143, 1883-1898
24. Skach, W. R. (2000) Kidney Int. 57, 825-831
25. Gelman, M. S., Kannegaard, E. S., and Kopito, R. R. (2002) J. Biol. Chem. 277, 11709-11714
26. Cheng, S. H., Gregory, R. J., Marshall, J., Paul, S., Souza, D. W., White, G. A., O'Riordan, C. R., and Smith, A. E. (1990) Cell 63, 827-834
27. Puchelle, E., Gaillard, D., Ploton, D., Hinnrasky, J., Fuchey, C., Boutterin, M. C., Jacquot, J., Dreyer, D., Pavirani, A., and Dalemans, W. (1992) Am. J. Respir. Cell Mol. Biol. 7, 485-491
28. Schagger, H., and von Jagow, G. (1991) Anal. Biochem. 199, 223-231
29. Lee, M.-H., Lu, K., and Patel, S. B. (2001) Curr. Opin. Lipidol. 12, 141-149
30. Cannon, K. S., Hebert, D. N., and Helenius, A. (1996) J. Biol. Chem. 271, 14280-14284
31. Swanton, E., High, S., and Woodman, P. (2003) EMBO J. 22, 2948-2958
32. Danilczyk, U. G., and Williams, D. B. (2001) J. Biol. Chem. 276, 25532-25540
33. Leach, M. R., Cohen-Doyle, M. F., Thomas, D. Y., and Williams, D. B. (2002) J. Biol. Chem. 277, 29686-29697
34. Leach, M. R., and Williams, D. B. (2004) J. Biol. Chem. 279, 9072-9079
35. Stronge, V. S., Saito, Y., Ihara, Y., and Williams, D. B. (2001) J. Biol. Chem. 276, 39779-39787
36. Helenius, A., and Aebi, M. (2001) Science 291, 2364-2369
37. Trombetta, E. S. (2003) Glycobiology 13, 77R-91R
38. Meacham, G. C., Lu, Z., King, S., Sorscher, E., Tousson, A., and Cyr, D. M. (1999) EMBO J. 18, 1492-1505
39. Loo, M. A., Jensen, T. J., Cui, L., Hou, Y., Chang, X. B., and Riordan, J. R. (1998) EMBO J. 17, 6879-6887
40. Strickland, E., Qu, B. H., Millen, L., and Thomas, P. J. (1997) J. Biol. Chem. 272, 25421-25424
41. Loo, T. W., and Clarke, D. M. (1995) J. Biol. Chem. 270, 21839-21844
42. Keitel, V., Nies, A. T., Brom, M., Hummel-Eisenbeiss, J., Spring, H., and Keppler, D. (2003) Am. J. Physiol. 284, G165-G174
43. Partridge, C. J., Beech, D. J., and Sivaprasadarao, A. (2001) J. Biol. Chem. 276, 35947-35952