Genetic disorders associated with ATP binding cassette cholesterol transporters

Molecular Genetics and Metabolism

Volumn 77, Issue 1-2, 2002, Pages 13-20

  Burris, Thomas P ^a   Eacho, Patrick I ^a   Cao, Guoqing ^a  

^a ELI LILLY AND COMPANY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; DIMER; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; MUTANT PROTEIN; SITOSTEROL; STEROL; ABC TRANSPORTER A1; ABCG5 PROTEIN, HUMAN; ABCG8 PROTEIN, HUMAN; CELL RECEPTOR; CHOLESTEROL; DNA BINDING PROTEIN; HIGH DENSITY LIPOPROTEIN; LIPOPROTEIN; LIVER X RECEPTOR; RETINOIC ACID RECEPTOR; RETINOID X RECEPTOR; SITOSTEROL DERIVATIVE; TRANSCRIPTION FACTOR;

ARTICLE; CELL TRANSPORT; CHOLESTEROL TRANSPORT; CORONARY ARTERY DISEASE; GENETIC DISORDER; HUMAN; LIPID ABSORPTION; LIPOPROTEIN METABOLISM; LIPOPROTEIN SYNTHESIS; METABOLIC BALANCE; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; REGULATORY MECHANISM; RISK FACTOR; TANGIER DISEASE; ANIMAL; BLOOD; CHEMISTRY; DISORDERS OF LIPID AND LIPOPROTEIN METABOLISM; GENETICS; HOMEOSTASIS; METABOLISM; MOUSE; MUTATION; REVIEW;

ANIMALS; ATP-BINDING CASSETTE TRANSPORTERS; CHOLESTEROL; DNA-BINDING PROTEINS; HOMEOSTASIS; HUMANS; LIPID METABOLISM, INBORN ERRORS; LIPOPROTEINS; LIPOPROTEINS, HDL; MICE; MUTATION; RECEPTORS, CYTOPLASMIC AND NUCLEAR; RECEPTORS, RETINOIC ACID; RETINOID X RECEPTORS; SITOSTEROLS; TANGIER DISEASE; TRANSCRIPTION FACTORS;

EID: 0036395179     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1096-7192(02)00144-0     Document Type: Review

References (54)

1. I.B. Holland, M.A. Blight, ABC-ATPases, adaptablenergy energy generators fuelling transmembrane movement of a variety of molecules in organisms from bacteria to humans, J. Mol. Biol. 293 (1999) 381-399.
2. J.R. Riordan, J.M. Rommens, B. Kerem, N. Alon, R. Rozmahel, Z. Grzelczak, J. Zielenski, S. Lok, N. Plavsic, J.L. Chou, et al., Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA, Science 245 (1989) 1066-1073.
3. R. Allikmets, N. Singh, H. Sun, N.F. Shroyer, A. Hutchinson, A. Chidambaram, B. Gerrard, L. Baird, D. Stauffer, A. Peiffer, A. Rattner, P. Smallwood, Y. Li, K.L. Anderson, R.A. Lewis, J. Nathans, M. Leppert, M. Dean, J.R. Lupski, A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy, Nat. Genet. 15 (1997) 236-246.
4. P.M. Thomas, G.J. Cote, N. Wohllk, B. Haddad, P.M. Mathew, W. Rabl, L. Aguilar-Bryan, R.F. Gagel, J. Bryan, Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy, Science 268 (1995) 426-429.
5. J. Mosser, A.M. Douar, C.O. Sarde, P. Kioschis, R. Feil, H. Moser, A.M. Poustka, J.L. Mandel, P. Aubourg, Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters, Nature 361 (1993) 726-730.
6. S.S. Strautnieks, L.N. Bull, A.S. Knisely, S.A. Kocoshis, N. Dahl, H. Arnell, E. Sokal, K. Dahan, S. Childs, V. Ling, M.S. Tanner, A.F. Kagalwalla, A. Nemeth, J. Pawlowska, A. Baker, G. Mieli-Vergani, N.B. Freimer, R.M. Gardiner, R.J. Thompson, A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis, Nat. Genet. 20 (1998) 233-238.
7. A. Brooks-Wilson, M. Marcil, S.M. Clee, L.H. Zhang, K. Roomp, M. van Dam, L. Yu, C. Brewer, J.A. Collins, H.O. Molhuizen, O. Loubser, B.F. Ouelette, K. Fichter, K.J. Ashbourne-Excoffon, C.W. Sensen, S. Scherer, S. Mott, M. Denis, D. Martindale, J. Frohlich, K. Morgan, B. Koop, S. Pimstone, J.J. Kastelein, M.R. Hayden, et al., Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency, Nat. Genet. 22 (1999) 336-345.
8. M. Bodzioch, E. Orso, J. Klucken, T. Langmann, A. Bottcher, W. Diederich, W. Drobnik, S. Barlage, C. Buchler, M. Porsch-Ozcurumez, W.E. Kaminski, H.W. Hahmann, K. Oette, G. Rothe, C. Aslanidis, K.J. Lackner, G. Schmitz, The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease, Nat. Genet. 22 (1999) 347-351.
9. S. Rust, M. Rosier, H. Funke, J. Real, Z. Amoura, J.C. Piette, J.F. Deleuze, H.B. Brewer, N. Duverger, P. Denefle, G. Assmann, Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1, Nat. Genet. 22 (1999) 352-355.
10. R.M. Lawn, D.P. Wade, M.R. Garvin, X. Wang, K. Schwartz, J.G. Porter, J.J. Seilhamer, A.M. Vaughan, J.F. Oram, The Tangier disease gene product ABC1 controls the cellular apolipoprotein-mediated lipid removal pathway, J. Clin. Invest. 104 (1999) R25-R31.
11. K.E. Berge, H. Tian, G.A. Graf, L. Yu, N.V. Grishin, J. Schultz, P. Kwiterovich, B. Shan, R. Barnes, H.H. Hobbs, Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters, Science 290 (2000) 1771-1775.
12. M.H. Lee, K. Lu, S. Hazard, H. Yu, S. Shulenin, H. Hidaka, H. Kojima, R. Allikmets, N. Sakuma, R. Pegoraro, A.K. Srivastava, G. Salen, M. Dean, S.B. Patel, Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption, Nat. Genet. 27 (2001) 79-83.
13. M.E. Brousseau, E.J. Schaefer, J. Dupuis, B. Eustace, P. Van Eerdewegh, A.L. Goldkamp, L.M. Thurston, M.G. FitzGerald, D. Yasek-McKenna, G. O'Neill, G.P. Eberhart, B. Weiffenbach, J.M. Ordovas, M.W. Freeman, R.H. Brown Jr., J.Z. Gu, Novel mutations in the gene encoding ATP-binding cassette 1 in four tangier disease kindreds, J. Lipid Res. 41 (2000) 433-441.
14. A.T. Remaley, S. Rust, M. Rosier, C. Knapper, L. Naudin, C. Broccardo, K.M. Peterson, C. Koch, I. Arnould, C. Prades, N. Duverger, H. Funke, G. Assman, M. Dinger, M. Dean, G. Chimini, S. Santamarina-Fojo, D.S. Fredrickson, P. Dene.e, H.B. Brewer Jr., Human ATP-binding cassette transporter 1 (ABC1): genomic organization and identification of the genetic defect in the original Tangier disease kindred, Proc. Natl. Acad. Sci. USA 96 (1999) 12685-12690.
15. P.A. Edwards, H.R. Kast, A.M. Anisfeld, BAREing it all. The adoption of lxr and fxr and their roles in lipid homeostasis, J. Lipid Res. 43 (2002) 2-12.
16. M.S. Brown, J.L. Goldstein, A receptor-mediated pathway for cholesterol homeostasis, Science 232 (1986) 34-47.
17. M.S. Brown, J.L. Goldstein, A proteolytic pathway that controls the cholesterol content of membranes, cells, and blood, Proc. Natl. Acad. Sci. USA 96 (1999) 11041-11048.
18. G.H. Rothblat, M. de la Llera-Moya, V. Atger, G. Kellner-Weibel, D.L. Williams, M.C. Phillips, Cell cholesterol efflux: integration of old and new observations provides new insights, J. Lipid Res. 40 (1999) 781-796.
19. A.S. Wierzbicki, D.P. Mikhailidis, Beyond LDL-C-the importance of raising HDL-C, Curr. Med. Res. Opin. 18 (2002) 36-44.
20. A.D. Attie, J.P. Kastelein, M.R. Hayden, Pivotal role of ABCA1 in reverse cholesterol transport influencing HDL levels and susceptibility to atherosclerosis, J. Lipid Res. 42 (2001) 1717-1726.
21. J.A. Glomset, The plasma lecithins:cholesterol acyltransferase reaction, J. Lipid Res. 9 (1968) 155-167.
22. A.v.E.a.H.B.B. GerdAssmann Jr., The Metabolic and Molecular Bases of Inherited Disease C.R. Scriver, McGraw-Hill, Health Professions Division, New York, 1995.
23. G. Rogler, B. Trumbach, B. Klima, K.J. Lackner, G. Schmitz, HDL-mediated efflux of intracellular cholesterol is impaired in fibroblasts from Tangier disease patients, Arterioscler. Thromb. Vasc. Biol. 15 (1995) 683-690.
24. M. Walter, U. Gerdes, U. Seedorf, G. Assmann, The high density lipoprotein- and apolipoprotein A-I-induced mobilization of cellular cholesterol is impaired in fibroblasts from Tangier disease subjects, Biochem. Biophys. Res. Commun. 205 (1994) 850-856.
25. G.A. Francis, R.H. Knopp, J.F. Oram, Defective removal of cellular cholesterol and phospholipids by apolipoprotein A-I in Tangier disease, J. Clin. Invest. 96 (1995) 78-87.
26. A.J. Mendez, Cholesterol efflux mediated by apolipoproteins is an active cellular process distinct from efflux mediated by passive diffusion, J. Lipid Res. 38 (1997) 1807-1821.
27. E. Orso, C. Broccardo, W.E. Kaminski, A. Bottcher, G. Liebisch, W. Drobnik, A. Gotz, O. Chambenoit, W. Diederich, T. Langmann, T. Spruss, M.F. Luciani, G. Rothe, K.J. Lackner, G. Chimini, G. Schmitz, Transport of lipids from golgi to plasma membrane is defective in tangier disease patients and Abc1-deficient mice, Nat. Genet. 24 (2000) 192-196.
28. J. McNeish, R.J. Aiello, D. Guyot, T. Turi, C. Gabel, C. Aldinger, K.L. Hoppe, M.L. Roach, L.J. Royer, J. de Wet, C. Broccardo, G. Chimini, O.L. Francone, High density lipoprotein deficiency and foam cell accumulation in mice with targeted disruption of ATP-binding cassette transporter-1, Proc. Natl. Acad. Sci. USA 97 (2000) 4245-4250.
29. L.B. Cavelier, Y. Qiu, J.K. Bielicki, V. Afzal, J.F. Cheng, E.M. Rubin, Regulation and activity of the human ABCA1 gene in transgenic mice, J. Biol. Chem. 276 (2001) 18046-18051.
30. R.R. Singaraja, 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, M.R. Hayden, Human ABCA1 BAC transgenic mice show increased high density lipoprotein cholesterol and ApoAI-dependent efflux stimulated by an internal promoter containing liver X receptor response elements in intron 1, J. Biol. Chem. 276 (2001) 33969-33979.
31. B.L. Vaisman, 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., S. Santamarina-Fojo, ABCA1 overexpression leads to hyperalphalipoproteinemia and increased biliary cholesterol excretion in transgenic mice, J. Clin. Invest. 108 (2001) 303-309.
32. S.M. Clee, J.J. 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. Molhuizen, J. Frohlich, J. Genest Jr., M.R. Hayden, Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes, J. Clin. Invest. 106 (2000) 1263-1270.
33. S.M. Clee, A.H. Zwinderman, J.C. Engert, K.Y. Zwarts, H.O. Molhuizen, K. Roomp, J.W. Jukema, M. van Wijland, M. van Dam, T.J. Hudson, A. Brooks-Wilson, J. Genest Jr., J.J. Kastelein, M.R. Hayden, Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease, Circulation 103 (2001) 1198-1205.
34. M. van Eck, I.S. Bos, W.E. Kaminski, E. Orso, G. Rothe, J. Twisk, A. Bottcher, E.S. Van Amersfoort, T.A. Christiansen-Weber, W.P. Fung-Leung, T.J. Van Berkel, G. Schmitz, Leukocyte ABCA1 controls susceptibility to atherosclerosis and macrophage recruitment into tissues, Proc. Natl. Acad. Sci. USA 99 (2002) 6298-6303.
35. R.J. Aiello, D. Brees, P.A. Bourassa, L. Royer, S. Lindsey, T. Coskran, M. Haghpassand, O.L. Francone, Increased atherosclerosis in hyperlipidemic mice with inactivation of ABCA1 in macrophages, Arterioscler. Thromb. Vasc. Biol. 22 (2002) 630-637.
36. C.W. Joyce, M.J. Amar, G. Lambert, B.L. Vaisman, B. Paigen, J. Najib-Fruchart, R.F. Hoyt Jr., E.D. Neufeld, A.T. Remaley, D.S. Fredrickson, H.B. Brewer Jr., S. Santamarina-Fojo, The ATP binding cassette transporter A1 (ABCA1) modulates the development of aortic atherosclerosis in C57BL/6 and apoE-knockout mice, Proc. Natl. Acad. Sci. USA 99 (2002) 407-412.
37. C. Gagne, D. Gaudet, E. Bruckert, Efficacy and safety of ezetimibe coadministered with atorvastatin or simvastatin in patients with homozygous familial hypercholesterolemia, Circulation 105 (2002) 2469-2475.
38. J.J. Repa, K.E. Berge, C. Pomajzl, J.A. Richardson, H.H. Hobbs, D.J. Mangelsdorf, Regulation of ATP-binding cassette sterol transporters, ABCG5 and ABCG8, by the oxysterol receptors, LXRα and β, J. Biol. Chem. 18 (2002) 18.
39. P.G. Yancey, J.K. Bielicki, W.J. Johnson, S. Lund-Katz, M.N. Palgunachari, G.M. Anantharamaiah, J.P. Segrest, M.C. Phillips, G.H. Rothblat, Efflux of cellular cholesterol and phospholipid to lipid-free apolipoproteins and class A amphipathic peptides, Biochemistry 34 (1995) 7955-7965.
40. N. Wang, D.L. Silver, P. Costet, A.R. Tall, Specific binding of ApoA-I, enhanced cholesterol efflux, and altered plasma membrane morphology in cells expressing ABC1, J. Biol. Chem. 275 (2000) 33053-33058.
41. N. Wang, D.L. Silver, C. Thiele, A.R. Tall, ATP-binding cassette transporter A1 (ABCA1) functions as a cholesterol efflux regulatory protein, J. Biol. Chem. 276 (2001) 23742-23747.
42. J.F. Oram, R.M. Lawn, M.R. Garvin, D.P. Wade, ABCA1 is the cAMP-inducible apolipoprotein receptor that mediates cholesterol secretion from macrophages, J. Biol. Chem. 275 (2000) 34508-34511.
43. W. Chen, Y. Sun, C. Welch, A. Gorelik, A.R. Leventhal, I. Tabas, A.R. Tall, Preferential ATP-binding cassette transporter A1-mediated cholesterol efflux from late endosomes/lysosomes, J. Biol. Chem. 276 (2001) 43564-43569.
44. B.A. Janowski, P.J. Willy, T.R. Devi, J.R. Falck, D.J. Mangelsdorf, An oxysterol signalling pathway mediated by the nuclear receptor LXR α, Nature 383 (1996) 728-731.
45. B.A. Janowski, M.J. Grogan, S.A. Jones, G.B. Wisely, S.A. Kliewer, E.J. Corey, D.J. Mangelsdorf, Structural requirements of ligands for the oxysterol liver X receptors LXRα and LXRβ, Proc. Natl. Acad. Sci. USA 96 (1999) 266-271.
46. T. Langmann, J. Klucken, M. Reil, G. Liebisch, M.F. Luciani, G. Chimini, W.E. Kaminski, G. Schmitz, Molecular cloning of the human ATP-binding cassette transporter 1 (hABC1): evidence for sterol-dependent regulation in macrophages, Biochem. Biophys. Res. Commun. 257 (1999) 29-33.
47. A. Venkateswaran, J.J. Repa, J.M. Lobaccaro, A. Bronson, D.J. Mangelsdorf, P.A. Edwards, Human white/murine ABC8 mRNA levels are highly induced in lipid-loaded macrophages. A transcriptional role for specific oxysterols, J. Biol. Chem. 275 (2000) 14700-14707.
48. J.J. Repa, S.D. Turley, J.A. Lobaccaro, J. Medina, L. Li, K. Lustig, B. Shan, R.A. Heyman, J.M. Dietschy, D.J. Mangelsdorf, Regulation of absorption and ABC1-mediated efflux of cholesterol by RXR heterodimers, Science 289 (2000) 1524-1529.
49. B.A. Laffitte, J.J. Repa, S.B. Joseph, D.C. Wilpitz, H.R. Kast, D.J. Mangelsdorf, P. Tontonoz, LXRs control lipid-inducible expression of the apolipoprotein E gene in macrophages and adipocytes, Proc. Natl. Acad. Sci. USA 98 (2001) 507-512.
50. J.J. Repa, G. Liang, J. Ou, Y. Bashmakov, J.M. Lobaccaro, I. Shimomura, B. Shan, M.S. Brown, J.L. Goldstein, D.J. Mangelsdorf, Regulation of mouse sterol regulatory element-binding protein-1c gene (SREBP-1c) by oxysterol receptors, LXRα and LXRβ, Genes Dev. 14 (2000) 2819-2830.
51. J.R. Schultz, H. Tu, A. Luk, J.J. Repa, J.C. Medina, L. Li, S. Schwendner, S. Wang, M. Thoolen, D.J. Mangelsdorf, K.D. Lustig, B. Shan, Role of LXRs in control of lipogenesis, Genes Dev. 14 (2000) 2831-2838.
52. Y. Luo, A.R. Tall, Sterol upregulation of human CETP expression in vitro and in transgenic mice by an LXR element, J. Clin. Invest. 105 (2000) 513-520.
53. J.M. Lehmann, S.A. Kliewer, L.B. Moore, T.A. Smith-Oliver, B.B. Oliver, J.L. Su, S.S. Sundseth, D.A. Winegar, D.E. Blanchard, T.A. Spencer, T.M. Willson, Activation of the nuclear receptor LXR by oxysterols de.nes a new hormone response pathway, J. Biol. Chem. 272 (1997) 3137-3140.
54. M. Haghpassand, P.A. Bourassa, O.L. Francone, R.J. Aiello, Monocyte/macrophage expression of ABCA1 has minimal contribution to plasma HDL levels, J. Clin. Invest. 108 (2001) 1315-1320.