Truncation mutations in ABCA1 suppress normal upregulation of full-length ABCA1 by 9-cis-retinoic acid and 22-R-hydroxycholesterol

Journal of Lipid Research

Volumn 43, Issue 11, 2002, Pages 1939-1949

  Wellington, Cheryl L ^a   Yang, Yu Zhou ^b   Zhou, Stephen ^b   Clee, Susanne M ^a   Tan, Bing ^c   Hirano, Kenichi ^d   Zwarts, Karin ^a   Kwok, Anita ^a   Gelfer, Allison ^a   Marcil, Michel ^e   Newman, Scott ^b   Roomp, Kirsten ^b   Singaraja, Roshni ^a   Collins, Jennifer ^b   Zhang, Lin Hua ^a   Groen, Albert K ^f   Hovingh, Kees ^f   Brownlie, Alison ^b   Tafuri, Sherrie ^c   Genest, Jacques ^e   Kastelein, John J P ^f   Hayden, Michael R ^a,b   more..

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b Xenon Genetics Inc ^*  (Canada)

^c PFIZER INC   (United States)

^d OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^e MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^f ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

Cholesterol efflux; High density lipoprotein cholesterol; Pharmacogenomics

Indexed keywords

ABC TRANSPORTER A1; CHOLESTEROL DERIVATIVE; GENE PRODUCT; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; RETINOIC ACID; UNCLASSIFIED DRUG; 22 HYDROXYCHOLESTEROL; 22-HYDROXYCHOLESTEROL; ABC TRANSPORTER; ALITRETINOIN; APOLIPOPROTEIN A1; HIGH DENSITY LIPOPROTEIN;

ALLELISM; ANIMAL CELL; ARTICLE; CHOLESTEROL METABOLISM; CHOLESTEROL TRANSPORT; CONTROLLED STUDY; CORRELATION ANALYSIS; FIBROBLAST; GENE FUNCTION; GENE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; HYPOLIPOPROTEINEMIA; IN VITRO STUDY; MOLECULAR MODEL; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; TANGIER DISEASE; ALLELE; ANIMAL; BIOSYNTHESIS; CHEMISTRY; DOMINANT GENE; DRUG EFFECT; GENETICS; HETEROZYGOTE; MACROPHAGE; METABOLISM; MOUSE; MUTATION; UPREGULATION;

ALLELES; ANIMALS; APOLIPOPROTEIN A-I; ATP-BINDING CASSETTE TRANSPORTERS; FIBROBLASTS; GENES, DOMINANT; HETEROZYGOTE; HUMANS; HYDROXYCHOLESTEROLS; LIPOPROTEINS, HDL; MACROPHAGES; MICE; MUTATION; TRETINOIN; UP-REGULATION;

EID: 0036846003     PISSN: 00222275     EISSN: None     Source Type: Journal    
DOI: 10.1194/jlr.M200277-JLR200     Document Type: Article

References (34)

1. Brooks-Wilson, A., M. Marcil, S. M. Clee, L. Zhang, K. Roomp, M. van Dam, L. Yu, C. Brewer, J. A. Collins, H. O. F. Molhuizen, O. Loubser, B. F. F. Ouellette, K. Fichter, K. J. D. Ashbourne Excoffon, C. W. Sensen, S. Scherer, S. Mott, M. Denis, D. Martindale, J. Frohlich, K. Morgan, B. Koop, S. N. Pimstone, J. J. P. Kastelein, J. Genest, Jr., and M. R. Hayden. 1999. Mutations in ABCA1 in Tangier disease and familial high-density lipoprotein deficiency. Nat. Genet. 22: 336-345.
2. Bodzioch, M., E. Orsó, J. Klucken, T. Langmann, A. Böttcher, W. Diederich, W. Drobnik, S. Barlage, C. Büchler, M. Porsch-Özcürümez, W. E. Kaminski, H. W. Hahmann, K. Oette, G. Rothe, C. Aslanidis, K. J. Lackner, and G. Schmitz. 1999. The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier Disease. Nat. Genet. 22: 347-351.
3. Rust, S., M. Rosier, H. Funke, Z. Amoura, J-C. Piette, J-F. Deleuze, H. B. Brewer, Jr., N. Duverger, P. Denèfle, and G. Assmann. 1999. Tangier Disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1. Nat. Genet. 22: 352-355.
4. Marcil, M., A. Brooks-Wilson, S. M. Clee, K. Roomp, L. Zhang, L. Yu, J. A. Collins, M. van Dam, H. O. F. Molhuizen, O. Loubser, B. F. F. Ouellette, C. W. Sensen, K. Fichter, S. Mott, M. Denis, B. Boucher, S. Pimstone, J. Genest, Jr., J. J. P. Kastelein, and M. R. Hayden. 1999. Mutations in the ABCA1 gene in familial HDL deficiency with defective cholesterol efflux. Lancet. 354: 1341-1346.
5. Fredrickson, D. S., P. H. Altrocchi, L. V. Avioli, D. W. S. Goodman, and H. C. Goodman. 1961. Tangier disease. Ann. Intern. Med. 55: 1016-1031.
6. Clee, S. M., J. J. P. Kastelein, M. van Dam, M. Marcil, K. Roomp, K. Y. Zwarts, J. A. Collins, R. Roelants, N. Tamasawa, T. Stulc, T. Suda, R. Ceska, B. Boucher, C. Rondeau, C. DeSouich, A. Brooks-Wilson, H. O. F. Molhuizen, J. Frohlich, J. Genest, Jr., and M. R. Hayden. 2000. HDL cholesterol levels and coronary artery disease in heterozygotes for ABCA1 mutations are predicted by cholesterol efflux levels and influenced by age. J. Clin. Invest. 106: 1263-1270.
7. Brousseau, M. E., G. P. Eberhart, J. Dupuis, B. F. Asztalos, A. L. Goldkamp, E. J. Schaefer, and M. W. Freeman. 2000. Cellular cholesterol efflux in heterozygotes for Tangier disease is markedly reduced and correlates with high density lipoprotein cholesterol concentration and particle size. J. Lipid Res. 41: 1125-1135.
8. Repa, J. J., S. D. Turley, J. A. Lobaccaro, J. Medina, L. Li, K. Lustig, B. Shan, R. A. Heyman, J. M. Dietschy, and D. J. Mangelsdorf. 2000. Regulation of absorption and ABCA1-mediated efflux of cholesterol by RXR heterodimers. Science. 289: 1524-1529.
9. Schwartz, K., R. M. Lawn, and D. P. Wade. 2000. ABCA1 gene expression and ApoA-I-mediated cholesterol efflux are regulated by LXR. Biochem. Biophys. Res. Commun. 274: 794-802.
10. Costet, P., Y. Luo, N. Wang, and A. R. Tall. 2000. Sterol-dependent transactivation of the ABCA1 promoter by the liver X receptor/retinoid X receptor. J. Biol. Chem. 275: 28240-28245.
11. Wang, N., D. L. Silver, P. Costet, and A. R. Tall. 2000. Specific binding of ApoA-I, enhanced cholesterol efflux, and altered plasma membrane morphology in cells expressing ABCA1. J. Biol. Chem. 275: 33053-33058.
12. Pullinger, C. R., H. Hakamata, P. N. Duchateau, C. Eng, B. E. Aouizerat, M. H. Cho, C. J. Fielding, and J. P. Kane. 2000. Analysis of hABCA1 gene 5′ end: Additional peptide sequence, promoter region, and four polymorphisms. Biochem. Biophys. Res. Commun. 271: 451-455.
13. Nishida, Y., K. Hirano, K. Tsukamoto, M. Nagano, C. Ikegami, K. Roomp, M. Ishihara, N. Sakane, Z. Zhang, K. Tsujii, A. Matsuyama, T. Ohama, F. Matsuura, M. Ishigami, N. Sakai, H. Hiraoka, H. Hattori, G. Wellington, Y. Yoshida, S. Misugi, M. R. Hayden, T. Egashira, S. Yamashita, and Y. Matsuzawa. 2002. Expression and functional analyses of novel mutations of ATP-binding cassette transporter-1 in Japanse patients with high-density lipoprotein deficiency. Biochem. Biophys. Res. Commun. 290: 713-721.
14. Wellington, C. L., E. K. Walker, A. Suarez, A. Kwok, N. Bissada, R. Singaraja, Y-Z. Yang, L. H. Zhang, E. James, J. E. Wilson, O. Francone, B. M. McManus, and M. R. Hayden. 2002. ABCA1 mRNA and protein distribution patterns predict multiple different roles and levels of regulation. Lab. Invest. 82: 273-283.
15. Bortnick, A. E., G. H. Rothblat, G. Stoudt, K. L. Hoppe, L. J. Royer, J. McNeish, and O. L. Francone. 2000. The correlation of ATP-binding cassette 1 mRNA levels with cholesterol efflux from various cell lines. J. Biol. Chem. 275: 28634-28640.
16. Singaraja, R. R., V. Bocher, E. R. James, S. M. Clee, L-H. Zhang, B. R. Leavitt, B. Tan, A. Brooks-Wilson, A. Kwok, N. Bissada, Y-Z. Yang, G. Liu, S. R. Tafuri, C. Fievet, C. L. Wellington, B. Staels, and M. R. Hayden. 2001. Human ABCA1 BAC transgenic mice show increased HDL-C and ApoA-I-dependent efflux stimulated by an internal promoter containing LXREs in intron 1. J. Biol. Chem. 276: 33969-33979.
17. Vaisman, B. L., G. Lambert, M. Amar, C. Joyce, T. Ito, R. D. Shamburek, W. J. Cain, J. Fruchart-Najib, E. D. Neufeld, A. T. Remaley, H. B. Brewer, Jr., and S. Santamarinao-Fojo. 2001. ABCA1 overexpression leads to hyperalphalipoproteinemia and increased biliary cholesterol excretion in transgenic mice. J. Clin. Invest. 108: 303-309.
18. Cavelier, L. B., Y. Qiu, J. K. Bielicki, V. Afzal, J-F. Cheng, and E. M. Rubin. 2001. Regulation and activity of the human ABCA1 gene in transgenic mice. J. Biol. Chem. 276: 18046-18051.
19. Singaraja, R., C. Fievet, G. Castro, E. R. Jamers, N. Hennuyer, S. M. Clee, N. Bissada, J. C. Choy, J-C. Fruchart, B. M. McManus, and M. R. Hayden. 2002. Increased ABCA1 activity protects against atherosclerosis. J. Clin. Invest. 110: 35-42.
20. Zhu, K., B. Debreceni, R. Li, and Y. Zheng. 2000. Identification of Rho GTPase-dependent sites in the Db1 homology domain of oncogenic Db1 that are required for transformation. J. Biol. Chem. 275: 25993-26001.
21. Mukherjee, S., J. E. Casanova, and M. Hunzicker-Dunn. 2001. Desensitization of the luteinizing hormone/choriogonadotropin receptor in ovarian follicular membranes is inhibited by catalytically inactive ARNO. J. Biol. Chem. 276: 6524-6528.
22. Pitson, S. M., P. A. B. Moretti, J. R. Zebol, P. Xia, J. R. Gamble, M. A. Vadas, R. J. D'Andrea, and B. W. Wattenberg. 2000. Expression of a catalytically inactive sphingosine kinase mutant blocks agonist-induced sphingosine kinase activation. A dominant-negative sphingosine kinase. J. Biol. Chem. 275: 33945-33950.
23. Love, J. D., J. T. Gooch, L. Nagy, V. K. Chatterjee, and J. W. Schwabe. 2000. Transcriptional repression by nuclear receptors: Mechanisms and roles in disease. Biochem. Soc. Trans. 28: 390-396.
24. Williams, D. A., W. Tao, F. Yang, C. Kim, Y. Gu, P. Mansfield, J. E. Levine, B. Petryniak, C. W. Derrow, C. Harris, B. Jia, Y. Zheng, D. R. Ambruso, J. B. Lowe, S. J. Atkinson, M. C. Dinauer, and L. Boxer. 2000. Dominant negative mutation of the hematopoietic-specific Rho GTPase, Rac2, is associated with a human phagocyte immunodeficiency. Blood. 96: 1646-1654.
25. Gosslar, U., R. Shmid, and B. Holzmann. 1999. Regulation of EGR-1-dependent gene expression by the C-terminal activation domain. Biochem. Biophys. Res. Commun. 255: 208-215.
26. Singh, S., H. Tang, J-Y. Lee, and G. Saunders. 1998. Truncation mutations in the transactivation region of PAX6 result in dominant-negative mutants. J. Biol. Chem. 273: 21531-21541.
27. Robinson, P. N., and M. Godfrey. 2000. The molecular genetics of Marfan syndrome and related microfibrillopathies. J. Med. Genet. 37: 9-25.
28. Lux, A., C. Gallione, and D. Marchuck. 2000. Expression analysis of endoglin missense and truncation mutations: Insights into protein structure and disease mechanisms. Hum. Mol. Genet. 9: 745-755.
29. Zhu, X., and J. Wess. 1998. Truncated V2 vasopressin receptors as negative regulators of wild-type V2 receptor function. Biochemistry. 37: 15773-15784.
30. Klein, I., B. Sarkadi, and A. Váradi. 1999. An inventory of the human ABC proteins. Biochim. Biophys. Acta. 1461: 237-262.
31. van Veen, H. W., and W. N. Konings. 1998. The ABC family of multidrug transporters in microorganisms. Biochim. Biophys. Acta. 1365: 31-36.
32. Braibant, M., P. Gilot, and J. Content. 2000. The ATP binding cassette (ABC) transport systems of mycobacterium tuberculosis. FEMS Microbiol. Rev. 24: 449-467.
33. Saier, M. H., Jr. 2000. Families of transmembrane transporters selective for amino acids and their derivatives. Microbiology. 146: 1775-1795.
34. Jetté, L., M. Potier, and R. Béliveau. 1997. P-Glycoprotein is a dimer in the kidney and brain capillary membranes: Effect of cyclosporin A and SDZ-PSC 833. Biochemistry. 36: 13929-13937.