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Correspondence to:
Michael Dean, To whom correspondence should be addressed., dean{at}ncifcrf.gov (E-mail)
The transport of specific molecules across lipid membranes is an essential function of all living organisms and a large number of specific transporters have evolved to carry out this function. The largest transporter gene family is the ATP-binding cassette (ABC) transporter superfamily. These proteins translocate a wide variety of substrates including sugars, amino acids, metal ions, peptides, and proteins, and a large number of hydrophobic compounds and metabolites across extra- and intracellular membranes. ABC genes are essential for many processes in the cell, and mutations in these genes cause or contribute to several human genetic disorders including cystic fibrosis, neurological disease, retinal degeneration, cholesterol and bile transport defects, anemia, and drug response. Characterization of eukaryotic genomes has allowed the complete identification of all the ABC genes in the yeast Saccharomyces cerevisiae, Drosophila, and C. elegans genomes. To date, there are 48 characterized human ABC genes. The genes can be divided into seven distinct subfamilies, based on organization of domains and amino acid homology. Many ABC genes play a role in the maintenance of the lipid bilayer and in the transport of fatty acids and sterols within the body.
Here, we review the current knowledge of the human ABC genes, their role in inherited disease, and understanding of the topology of these genes within the membrane. — Dean, M., Y. Hamon, and G. Chimini. The human ATP-binding cassette (ABC) transporter superfamily. J. Lipid Res. 2001. 42: 1007;–1017.
Supplementary key words:
membrane transporters, evolution, lipid, genetic diseases, cholesterol
Copyright © 2001 by Lipid Research, Inc.
Thematic Review
The human ATP-binding cassette (ABC) transporter superfamily
Michael Deana,
Yannick Hamonb, and
Giovanna Chiminib
a Human Genetics Section, Laboratory of Genomic Diversity, National Cancer Institute-Frederick, Bldg. 560, Rm. 21-18, Frederick, MD 21702
b Centre d'Immunologie INSERM/CNRS de Marseille-Luminy, Marseille, 13288 Cedex 09, France
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L. Chapman, A. Nishimura, J. C. Buckingham, J. F. Morris, and H. C. Christian Externalization of Annexin I from A Folliculo-Stellate-Like Cell Line Endocrinology, November 1, 2002; 143(11): 4330 - 4338. [Abstract] [Full Text] [PDF]
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J. J. Repa, J. M. Dietschy, and S. D. Turley Inhibition of cholesterol absorption by SCH 58053 in the mouse is not mediated via changes in the expression of mRNA for ABCA1, ABCG5, or ABCG8 in the enterocyte J. Lipid Res., November 1, 2002; 43(11): 1864 - 1874. [Abstract] [Full Text] [PDF]
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K. J. Mengerink and V. D. Vacquier An ATP-binding Cassette Transporter Is a Major Glycoprotein of Sea Urchin Sperm Membranes J. Biol. Chem., October 18, 2002; 277(43): 40729 - 40734. [Abstract] [Full Text] [PDF]
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 O. I. Petriv, D. B. Pilgrim, R. A. Rachubinski, and V. I. Titorenko RNA interference of peroxisome-related genes in C. elegans: a new model for human peroxisomal disorders Physiol Genomics, August 14, 2002; 10(2): 79 - 91. [Abstract] [Full Text] [PDF]
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 J. PLAT and R. P. MENSINK Increased intestinal ABCA1 expression contributes to the decrease in cholesterol absorption after plant stanol consumption FASEB J, August 1, 2002; 16(10): 1248 - 1253. [Abstract] [Full Text] [PDF]
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 E. E. Fetsch and A. L. Davidson From the Cover: Vanadate-catalyzed photocleavage of the signature motif of an ATP-binding cassette (ABC) transporter PNAS, July 23, 2002; 99(15): 9685 - 9690. [Abstract] [Full Text] [PDF]
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S. Mulugeta, J. M. Gray, K. L. Notarfrancesco, L. W. Gonzales, M. Koval, S. I. Feinstein, P. L. Ballard, A. B. Fisher, and H. Shuman Identification of LBM180, a Lamellar Body Limiting Membrane Protein of Alveolar Type II Cells, as the ABC Transporter Protein ABCA3 J. Biol. Chem., June 14, 2002; 277(25): 22147 - 22155. [Abstract] [Full Text] [PDF]
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J. E. Moody, L. Millen, D. Binns, J. F. Hunt, and P. J. Thomas Cooperative, ATP-dependent Association of the Nucleotide Binding Cassettes during the Catalytic Cycle of ATP-binding Cassette Transporters J. Biol. Chem., June 7, 2002; 277(24): 21111 - 21114. [Abstract] [Full Text] [PDF]
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K. G. Sharma, D. L. Mason, G. Liu, P. A. Rea, A. K. Bachhawat, and S. Michaelis Localization, Regulation, and Substrate Transport Properties of Bpt1p, a Saccharomyces cerevisiae MRP-Type ABC Transporter Eukaryot. Cell, June 1, 2002; 1(3): 391 - 400. [Abstract] [Full Text] [PDF]
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 Y. Zhang and D. J. Mangelsdorf LuXuRies of Lipid Homeostasis: The Unity of Nuclear Hormone Receptors, Transcription Regulation, and Cholesterol Sensing Mol. Interv., April 1, 2002; 2(2): 78 - 87. [Abstract] [Full Text] [PDF]
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R. J. Aiello, D. Brees, P.-A. Bourassa, L. Royer, S. Lindsey, T. Coskran, M. Haghpassand, and O. L. Francone Increased Atherosclerosis in Hyperlipidemic Mice With Inactivation of ABCA1 in Macrophages Arterioscler Thromb Vasc Biol, April 1, 2002; 22(4): 630 - 637. [Abstract] [Full Text] [PDF]
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A. L. Davidson Mechanism of Coupling of Transport to Hydrolysis in Bacterial ATP-Binding Cassette Transporters J. Bacteriol., March 1, 2002; 184(5): 1225 - 1233. [Full Text] [PDF]
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 H.H. HOBBS, G.A. GRAF, L. YU, K.R. WILUND, and J.C. COHEN Genetic Defenses against Hypercholesterolemia Cold Spring Harb Symp Quant Biol, January 1, 2002; 67(0): 499 - 506. [Abstract] [PDF]
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A. Chawla, J. J. Repa, R. M. Evans, and D. J. Mangelsdorf Nuclear Receptors and Lipid Physiology: Opening the X-Files Science, November 30, 2001; 294(5548): 1866 - 1870. [Abstract] [Full Text] [PDF]
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J. F. Oram and R. M. Lawn ABCA1: the gatekeeper for eliminating excess tissue cholesterol J. Lipid Res., August 1, 2001; 42(8): 1173 - 1179. [Abstract] [Full Text] [PDF]
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R. J. Aiello, D. Brees, P.-A. Bourassa, L. Royer, S. Lindsey, T. Coskran, M. Haghpassand, and O. L. Francone Increased Atherosclerosis in Hyperlipidemic Mice With Inactivation of ABCA1 in Macrophages Arterioscler Thromb Vasc Biol, April 1, 2002; 22(4): 630 - 637. [Abstract] [Full Text] [PDF]
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