Abstract
The apolipoprotein E (Apo E) present on chylomicron and very low density lipoprotein (VLDL) remnants plays a central role in the hepatic metabolism of these particles as this apolipoprotein is recognized with high affinity by hepatic lipoprotein receptors (Sherrill et al., 1980; Weisgraber et al., 1982). Human Apo E can be separated by isoelectric focusing into three major isoforms, i.e. E2, E3 and E4 which differ in pi by a single charge unit, Apo E4 being the most basic and E2 the most acidic form. This heterogeneity of Apo E is the result of three different alleles, E*4, E*3 and E*2 at a single APOE locus in the long arm of chromosome 19 (Zannis and Breslow, 1981; Utermann et al., 1982).
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References
Fredrickson, D.S., Goldstein, J.L., and Brown, M.S., The familial hyper-lipoproteinemias, in: “The metabolic basis of inherited disease,” Stanbury, Wyngaarden, and Fredrickson, eds., McGraw-Hill, New York (1980).
Ghiselli, G., Gregg, R.E., and Brewer, H.B., 1984, Apolipoprotein E-Bethesda. Isolation and partial characterization of a variant of human apolipoprotein E isolated from very low density lipoproteins, Biochim. Biophys. Acta, 794: 333.
Havekes, L., de Wit, E., Gevers Leuven, J., Klasen, E., Utermann, G., Weber, W., and Beisiegel, U., 1986, Apolipoprotein E3-Leiden. A new variant of human apolipoprotein E associated with familial type III hyperlipoproteinemia, Hum. Genet., 73: 157.
Havekes, L.M., de Knijff, P., Beisiegel, U., Havinga, J., Smit, M., and Klasen, E., 1987, A rapid micromethod for apolipoprotein E phenotyping directly in serum, J, Lipid Res., 28: 455.
Havel, R.J., Kotite, L., Kane, J.P., Tun, P., and Bersot, T., 1983, A typical dysbetalipoproteinemia associated with apolipoprotein phenotype E3/3, J. Clin. Invest., 72: 379.
Innerarity, T.L., Weisgraber, K.H., Arnold, K.S., Rall, S.C., and Mahley, R.W., 1984, Normalization of receptor binding of apolipoprotein E2. Evidence for modulation of the binding site confirmation, J. Biol. Chem., 259: 7261.
Klasen, E.C., Smit, M., de Knijff, P., Gevers Leuven, J., Kempen-Voogd, R., and Havekes, L., 1987, Apolipoprotein E phenotype and gene distribution in The Netherlands, Hum. Hered., 37: 340.
Menzel, H.J., and Utermann, G., 1986, Apolipoprotein E phenotyping from serum by Western blotting, Electrophoresis, 7: 492.
Rail, S.C., Weisgraber, K.H., and Mahley, R.W., 1982, Human apolipoprotein E. The complete amino acid sequence, J. Biol. Chem., 257: 4171.
Rail, S.C., Weisgraber, K.H., Innerarity, T.L., Bersot, T.P., and Mahley, R.W., 1983, Identification of a new structural variant of human apolipoprotein E, E2(Lys 146 Gin), in a type III hyperlipoproteinemic subject with the E3/E2 phenotype, J. Clin. Invest., 72: 1288.
Schneider, W.J., Kovanen, P.T., Brown, M.S., Goldstein, J.L., Utermann, G., Weber, W., Havel, R.J., Kotite, L., Kane, J.P., Innerarity, T.L., and Mahley, R.W., 1981, Familial dysbetalipoproteinemia. Abnormal binding of mutant apoprotein E to low density lipoprotein receptors of human fibroblasts and membranes from liver and adrenal of rats, rabbits, and cows, J. Clin. Invest., 68: 1075.
Sherrill, B.C., Innerarity, T.L., and Mahley, R.W., 1980, Rapid hepatic clearance of the canine lipoproteins containing only the E apoprotein by a high affinity receptor, J. Biol. Chem., 255: 1804.
Utermann, G., Steinmetz, A., and Weber, W., 1982, Genetic control of human apolipoprotein E polymorphism: comparison of one- and two-dimensional techniques of isoprotein analysis, Hum. Genet., 60: 344.
Weisgraber, K.H., Innerarity, T.L., and Mahley, R.W., 1982, Abnormal lipoprotein receptor binding activity of the human E apoprotein due to cysteine-arginine interchange at a single site, J. Biol. Chem., 257: 2518.
Yamamura, T., Yamamoto, A., Hiramori, K., and Nambu, S., 1984, A new isoform of apolipoprotein E - apo E5 — associated with hyperlipidemia and atherosclerosis, Atherosclerosis, 50: 159.
Zannis, V.I., and Breslow, J.L., 1981, Human very low density lipoprotein apolipoprotein E isoprotein polymorphism is explained by genetic variation and posttranslational modification, Biochemistry, 20: 1033.
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© 1989 Plenum Press, New York
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Havekes, L.M., de Knijff, P., Leuven, J.G., Frants, R.R. (1989). Apo E Polymorphism in Relation to the Expression of Familial Dysbetalipoproteinemia. In: Sirtori, C.R., Franceschini, G., Brewer, H.B., Assmann, G. (eds) Human Apolipoprotein Mutants 2. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-9549-6_22
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DOI: https://doi.org/10.1007/978-1-4615-9549-6_22
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