Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency
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Gordon, T., Castelli, W.P., Hjortland, M.C., Kannel, W.B. & Dawber, T.R. High density lipoprotein as a protective factor against coronary heart disease. The Framingham Study. Am. J. Med. 62, 707–714 (1977).
Castelli, W.P. et al. Incidence of coronary heart disease and lipoprotein cholesterol levels: The Framingham Study. JAMA 256, 2835–2838 (1986).
Kannel, W.B. High density lipoproteins: epidemiologic profile and risks of coronary artery disease. Am. J. Cardiol. 52, 98– 128 (1983).
Bass, K.M., Newschaffer, C.J., Klag, M.J. & Bush, T.L. Plasma lipoprotein levels as predictors of cardiovascular death in women. Arch. Intern. Med. 153, 2209– 2216 (1993).
Genest, J. Jr Marcil, M., Denis, M. & Yu, L. High density lipoproteins in health and in disease. J. Invest. Med. 47, 31–42 (1999).
Genest, J. Jr et al. Familial lipoprotein disorders in patients with premature coronary artery disease. Circulation 85, 2025–2033 (1992).
Genest, J. Jr, Bard, J.-M., Fruchart, J.-C., Ordovas, J.M. & Schaefer, E.J. Familial hypoalphalipoproteinemia in premature coronary artery disease. Arterioscler. Thromb. 13, 1728–1737 (1993).
Talmud, P., Ye, S. & Humphries, S. A polymorphism in the promoter of the apolipoprotein AI gene associated with differences in apo AI levels: the European Atherosclerosis Research Study. Genet. Epidemiol. 45, 161 –179 (1982).
Reymer, P.W.A. et al. A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis. Nature Genet. 10, 28–33 (1995).
Kuivenhoven, J.A. et al. The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes. J. Lipid Res. 38, 191–205 (1997).
Breckenridge, W.C. et al. Lipoprotein abnormalities associated with a familial deficiency of hepatic lipase. Atherosclerosis 45, 161 –179 (1982).
Kuivenhoven, J.A. et al. Heterogeneity at the CETP gene locus. Influence on plasma CETP concentrations and HDL cholesterol levels. Arterioscler. Thromb. Vasc. Biol. 17, 560–568 (1997).
Assmann, G., von Eckardstein, A. & Brewer, H.B. Jr Familial high density lipoprotein deficiency: Tangier disease. in The Metabolic and Molecular Basis of Inherited Disease (eds Scriver, C.R. et al. ) 2053– 2072 (McGraw-Hill, New York, 1995).
Rogler, G., Trumbach, 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).
Remaley, A.T. et al. Decreased reverse cholesterol transport from Tangier disease fibroblasts. Arterioscler. Thromb. Vasc. Biol. 17, 1813–1821 (1997).
Marcil, M. et al. Cellular cholesterol transport and efflux in fibroblasts is abnormal in subjects with familial HDL deficiency. Arterioscler. Thromb. Vasc. Biol. 19, 159–169 (1999).
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).
Rust, S. et al. Assignment of Tangier disease to chromosome 9q31 by a graphical linkage exclusion strategy. Nature Genet. 20, 96–98 (1998).
Frohlich, J. et al. Interaction of high density lipoprotein with adipocytes in a new patient with Tangier disease. Clin. Invest. Med. 10, 377–382 (1987).
Schaefer, E.J., Zech, L.A., Schwartz, D.E. & Brewer, H.B. Jr Coronary heart disease prevalence and other clinical features in familial high-density lipoprotein deficiency (Tangier disease). Ann. Int. Med. 93, 261–266 (1980).
Marcil, M. et al. Severe familial HDL deficiency in French Canadian kindred: biochemical and molecular characterization. Arterioscler. Thromb. Vasc. Biol. 15, 1015–1024 (1995).
Walter, M. et al. Defective regulation of phosophatidylcholine-specific phospholipases C and D in a kindred with Tangier disease. Evidence for the involvement of phosphatidylcholine breakdown in HDL-mediated cholesterol efflux mechanisms. J. Clin. Invest. 98, 2315– 2323 (1996).
Mendez, A.J., Oram, J.F. & Bierman, E.L. Role of the protein kinase C signaling pathway in high-density lipoprotein receptor-mediated efflux of intracellular cholesterol. Trans. Assoc. Am. Physicians 104, 48– 53 (1991).
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).
Dean, M. & Allikmets, R. Evolution of ATP-binding cassette transporter genes. Curr. Opin. Genet. Dev. 5, 779–785 (1995).
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. Int. Med. 55, 1016 (1961 ).
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).
Allikmets, R. et al. Organization of the ABCR gene: analysis of promoter and splice junction sequences. Gene 215, 111–122 (1998).
Zielenski, J. & Tsui, L.C. Cystic fibrosis: genotypic and phenotypic variations. Annu. Rev. Genet. 29, 777– 807 (1995).
Mosser, J. et al. Putative X-linked adrenoleukodystrophy gene shared unexpected homology with ABC transporters. Nature 361, 726–730 (1993).
Gärtner, J., Moser, H. & Valle, D. Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome. Nature Genet. 1, 23 (1992).
Bull, L.N. et al. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. Nature Genet. 18, 219– 224 (1998).
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).
Allikmets, R. et al. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science 277, 1805– 1807 (1997).
Cremers, F.P. et al. Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. Hum. Mol. Genet. 7, 355–362 (1998).
Becq, F. et al. ABC1, an ATP binding cassette transporter required for phagocytosis of apoptotic cells, generates a regulated anion flux after expression in Xenopus laevis oocytes. J. Biol. Chem. 272, 2695 –2699 (1997).
Drobnick, W., Mollers, C., Resink, T. & Schmitz, G. Activation of phosphatidylinositol-specific phospholipase C in response to HDL3 and LDL is markedly reduced in cultured fibroblasts from Tangier patients. Arterioscler. Thromb. Vasc. Biol. 15, 1369 –1377 (1995).
Serfaty-Lacrosniere, C. et al. Homozygous Tangier disease and cardiovascular disease. Atherosclerosis 107, 85– 98 (1994).
Cottingham, R.W. Jr Idury, R.M. & Shäffer, A.A. Faster sequential genetic linkage computations. Am. J. Hum. Genet. 53, 252–263 (1993).
Schäffer, A.A., Gupta, S.K., Shriram, K. & Cottingham, R.W. Jr Avoiding recomputation in linkage analysis. Hum. Hered. 44, 225–237 (1994).
Schäffer, A.A. Faster linkage analysis computations for pedigrees with loops or unused alleles. Hum. Hered. 46, 226–235 (1996).
Lathrop, G.M., Lalouel, J.M., Julier, C. & Ott, J. Strategies for multilocus linkage analysis in humans. Proc. Natl Acad. Sci. USA 81, 3443–3446 (1984).
Lathrop, G.M., Lalouel, J.M. & White, R.L. Construction of human linkage maps: likelihood calculations for multilocus linkage analysis. Genet. Epidemiol. 3, 39–52 (1986).
Baxevanis, A.D. Information retrieval from biological databases. in Bioinformatics: A Practical Guide to the Analysis of Genes and Proteins (eds Baxevanis, A.D. & Ouellette, B.F.F.) 98–120 (Wiley and Sons, New York, 1998).
Thompson, J.D., Higgins, D.G. & Gibson, T.J. CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, positions-specific gap penalties and weight matrix choice. Nucleic Acids Res. 22, 4673–4680 (1994).
Smith, R.F., Wiese, B.A., Wojzynski, M.K., Davison, D.B. & Worley, K.C. BCM search launcher—an integrated interface to molecular biology data base search and analysis services available on the World Wide Web. Genome Res. 6, 454 –462 (1996).
Altschul, S.F. et al. Gapped BLAST and PSI-BLAST: a new generation of protein database search programs. Nucleic Acids Res. 25, 3389–3402 (1997).
Rowen, L. & Koop, B.F. Automated DNA Sequencing and Analysis (eds Adams, M.D., Fields, C. & Venter, J.C.) (Academic Press, San Diego, 1994).