The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease

Fredrickson, D.S., Altrocchi, P.H., Avioli, L.V., Goodman, D.S. & Goodman, H.C. Tangier disease—combined clinical staff conference at the National Institutes of Health. Ann. Intern. Med. 55, 1016–1031 (1961).

Assmann, G., Schmitz, G. & Brewer, H.B. Jr Familial high density lipoprotein deficiency: Tangier disease. in The Metabolic Basis of Inherited Disease (eds Scriver, C.R., Beaudet, A.L., Sly, W.S. & Valle, D.) 1267–1282 (McGraw-Hill, New York, 1989).

Schmitz, G., Assmann, G., Robenek, H. & Brennhausen, B. Tangier disease: a disorder of intracellular membrane traffic. Proc. Natl Acad. Sci. USA 82, 6305–6309 ( 1985).

Robenek, H. & Schmitz, G. Abnormal processing of Golgi elements and lysosomes in Tangier disease. Arterioscler. Thromb. 11, 1007–1020 (1991).

Rogler, G., Trümbach, B., Klima, B., Lackner, K.J. & Schmitz, G. HDL-mediated efflux of intracellular cholesterol is impaired in fibroblasts from Tangier disease patients. Arterioscler. Thromb. Vasc. Biol. 15, 683– 690 (1995).

Francis, G.A., Knopp, R.H. & Oram, J.F. Defective removal of cellular cholesterol and phospholipids by apolipoprotein A-I in Tangier disease. J. Clin. Invest. 96, 78–87 (1995).

Schmitz, G., Fischer, H., Beuck, M., Hoecker, K.P. & Robenek, H. Dysregulation of lipid metabolism in Tangier monocyte-derived macrophages. Arteriosclerosis 10, 1010– 1019 (1990).

Drobnik, W. et al. Growth and cell cycle abnormalities of fibroblasts from Tangier disease patients. Arterioscler. Thromb. Vasc. Biol. 19, 28–38 (1999).

Rust, S. et al. Assignment of Tangier disease to chromosome 9q31 by a graphical linkage exclusion strategy. Nature Genet. 20, 96–98 (1998).

Luciani, M.F., Denizot, F., Savary, S., Mattei, M.G. & Chimini, G. Cloning of two novel ABC transporters mapping on human chromosome 9. Genomics 21, 150– 159 (1994).

Langmann, T. et al. Molecular cloning of the human ATP-binding cassette transporter 1 (hABC1): evidence for sterol-dependent regulation in macrophages. Biochem. Biophys. Res. Comm. 257, 29– 33 (1999).

Higgins, C.F. ABC-transporters: from microorganisms to man. Annu. Rev. Cell Biol. 8, 67–113 (1992).

Higgins, C.F. Flip-flop: the transmembrane translocation of lipids. Cell 79, 393–395 (1994).

Van Helvoort, A. et al. MDR1 P-glycoprotein is a lipid translocase of broad specificity, while MDR3 P-glycoprotein specifically translocates phosphatidylcholine. Cell 87, 507–517 (1996).

Dekkers, D.W., Comfurius, P., Schroit, A.J., Bevers, E.M. & Zwaal, R.F. Transbilayer movement of NBD-labeled phospholipids in red blood cell membranes: outward-directed transport by the multidrug resistance protein 1 (MRP1). Biochemistry 37, 14833–14837 (1998).

Mosser, J. et al. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature 361, 726–730 (1993).

Allikmets, R., Gerrard, B., Hutchinson, A. & Dean, M. Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the expressed sequence tags database. Hum. Mol. Genet. 5, 1649–1655 (1996).

Allikmets, R. et al. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nature Genet. 15, 236–246 (1997).

Assmann, G., Smootz, E., Adler, K., Capurso, A. & Oette, K. The lipoprotein abnormality in Tangier disease: quantitation of A apoproteins. J. Clin. Invest. 59, 565 –575 (1977).

Gibbels, E. et al. Severe polyneuropathy in Tangier disease mimicking syringomyelia or leprosy. Clinical, biochemical, electrophysiological, and morphological evaluation, including electron microscopy of nerve, muscle, and skin biopsies. J. Neurol. 232, 283–294 (1985).

von Eckardstein, A. et al. Plasma and fibroblasts of Tangier disease patients are disturbed in transferring phospholipids onto apolipoprotein A-I. J. Lipid Res. 39, 987–998 (1998).

Schneider, E. & Hunke, S. ATP-binding cassette (ABC) transport systems: functional and structural aspects of the ATP-hydrolyzing subunits/domains. FEMS Microbiol. Rev. 22, 1– 20 (1998).

Ramjeesingh, M. et al. Walker mutations reveal loose relationship between catalytic and channel-gating activities of purified CFTR (cystic fibrosis transmembrane conductance regulator). Biochemistry 38, 1463–1468 (1999).

Lewis, R.A. et al. Genotype/phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. Am. J. Hum. Genet. 64, 422–434 (1999).

Luciani, M.F. & Chimini, G. The ATP binding cassette transporter ABC1 is required for the engulfment of corpses generated by apoptotic cell death. EMBO J. 15, 226– 235 (1996).

Hamon, Y. et al. Interleukin-1β secretion is impaired by inhibitors of the ATP binding cassette transporter, ABC1. Blood 90, 2911–2915 (1997).

Fielding, C.J. & Fielding, P.E. Molecular physiology of reverse cholesterol transport. J. Lipid Res. 36, 211–228 (1995).

Acton, S. et al. Identification of scavenger receptor SR-BI as a high density lipoprotein receptor. Science 271, 518– 520 (1996).

Jian, B. et al. Scavenger receptor class B type I as a mediator of cellular cholesterol efflux to lipoproteins and phospholipid acceptors. J. Biol. Chem. 273, 5599–5606 (1998).