Apolipoprotein E R112; R251G: A carboxy-terminal variant found in patients with hyperlipidemia and coronary heart disease

Mutation Research - Mutation Research Genomics

Volumn 382, Issue 1-2, 1997, Pages 57-65

  Kang, Amrit K ^a   Jenkins, David J A ^a,b   Wolever, Thomas M S ^a,b   Huff, Murray W ^c   Maguire, Graham F ^b   Connelly, Philip W ^a,b   Hegele, Robert A ^a,b  

^a UNIVERSITY OF TORONTO   (Canada)

^b ST MICHAEL'S HOSPITAL   (Canada)

^c ROBARTS RESEARCH INSTITUTE   (Canada)

Author keywords

Atherosclerosis; DNA sequencing; Genetic association; Polygenic disease

Indexed keywords

APOLIPOPROTEIN E3; APOLIPOPROTEIN E4; ARGININE; CYTOSINE; DNA; GLYCINE; GUANINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; DNA SEQUENCE; GENOTYPE; HUMAN; HYPERLIPIDEMIA; ISCHEMIC HEART DISEASE; MALE; POINT MUTATION; PRIORITY JOURNAL; ST SEGMENT DEPRESSION;

ANIMALS; APOLIPOPROTEINS E; CELL LINE; CHOLESTEROL; CHOLESTEROL ESTERS; CORONARY DISEASE; FEMALE; HUMANS; HYPERLIPIDEMIA, FAMILIAL COMBINED; HYPERLIPOPROTEINEMIA TYPE II; ISOELECTRIC FOCUSING; LIPOPROTEINS, VLDL; MACROPHAGES; MALE; MICE; MIDDLE AGED; OLEIC ACID; PEDIGREE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POSTPRANDIAL PERIOD; SEQUENCE ANALYSIS, DNA; TRIGLYCERIDES; VITAMIN A;

EID: 0031224906     PISSN: 13835726     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1383-5726(97)00009-5     Document Type: Article

References (25)

1. Gerard S., Pillot T., Regis-Bailly A., Leininger-Muller B., Steinmetz J., Galteau M., Visvikis S. Apolipoprotein E: an important gene and protein to follow in laboratory medicine. Clin. Chem. 41:1995;1068-1086.
2. Walden C.C., Hegele R.A. Apolipoprotein E in hyperlipidemia. Ann. Intern. Med. 120:1994;1026-1036.
3. Davignon J., Gregg R.E., Sing C.F. Apolipoprotein E polymorphism and atherosclerosis. Arteriosclerosis. 8:1988;1-21.
4. Gregg R.E., Brewer H.B. Jr. The role of apolipoprotein E and lipoprotein receptors in modulating the in vivo metabolism of apolipoprotein B-containing lipoproteins in humans. Clin. Chem. 34:1988;B28-B32.
5. Brown B.G., Zhao X.-Q., Sacco D.E., Albers J.J. Lipid lowering and plaque regression: new insights into prevention of plaque disruption and clinical events in coronary disease. Circulation. 87:1993;1781-1791.
6. R.W. Mahley, S.C. Rall, Apolipoprotein E, in: C.R. Scriver (Ed.), The metabolic basis of inherited disease, McGraw Hill, New York, 1989, pp. 1195-1213.
7. Rall S.C. Jr., Mahley R.W. The role of apolipoprotein E genetic variants in lipoprotein disorders. J. Intern. Med. 231:1991;653-659.
8. Innerarity T.L., Weisgraber K.H., Arnold K.S., Rall S.C. Jr., Mahley R.W. Normalization of receptor binding of E2. Evidence for modulation of the binding site conformation. J. Biol. Chem. 259:1984;7261-7267.
9. Lalazar A., Mahley R.W. Human apolipoprotein E. Receptor binding activity of truncated variants with carboxyl-terminal deletions. J. Biol. Chem. 264:1989;8447-8450.
10. Van den Maagdenberg A.M.J.M., Weng W., De Bruijn I.H., De Knijff P., Funke H., Smelt A.H.M.et al. Characterization of five new mutants in the carboxyl-terminal domain of human apolipoprotein E: no cosegregation with severe hyperlipidemia. Am. J. Hum. Genet. 52:1993;937-946.
11. Lipid Research Clinic Program, Lipid and lipoprotein analysis, Manual of lab. operations, version 1, DHEW publication (NIH) US Government Printing Office, Washington DC, 1982, pp. 75-628.
12. Maguire G.F., Little J.A., Kakis G., Breckenridge W.C. Apolipoprotein C-II deficiency associated with nonfunctional mutant forms of apolipoprotein C-II. Can. J. Biochem. Cell. Biol. 62:1984;847-852.
13. Creighton T.E. Counting integral numbers of amino acid residues per polypeptide chain. Nature. 284:1980;487-489.
14. Hixson J.E., Vernier D.T. Restriction isotyping of human apolipoprotein by gene amplification and cleavage with HhaI. J. Lipid Res. 31:1990;545-548.
15. Emi M., Wu L.L., Robertson M.A., Myers R.L., Hegele R.A., Williams R.R.et al. Genotyping and sequence analysis of apolipoprotein E isoforms. Genomics. 3:1988;373-379.
16. Ng D.S., Leiter L.A., Vezina C., Connelly P.W., Hegele R.A. Apolipoprotein A-I Q[-2] X causing isolated apolipoprotein A-I deficiency in a family with analphalipoproteinemia. J. Clin. Invest. 93:1994;223-229.
17. Huff M.W., Sawyez C.G., Connelly P.W., F Maguire G., Little J.A., Hegele R.A. B-VLDL in hepatic lipase deficiency induced Apo E-mediated cholesterol ester accumulation in macrophages. Arterioscler. Thromb. 13:1993;1282-1290.
18. Weintraub M.S., Eisenberg S., Breslow J.L. Dietary fat clearance in normal subjects is regulated by genetic variation in apolipoprotein E. J. Clin. Invest. 80:1987;1571-1577.
19. Jenkins D.J.A., Wolever T.M.S., Rao A.V., Hegele R.A., Mitchell S.J., Ransom T.P.P.et al. Effect on blood lipids of very high intakes of fibre in diets low in saturated fat and cholesterol. N. Engl. J. Med. 329:1993;21-26.
20. Wardell M.R., Rall S.C. Jr., Brennan S.O., Nye E.R., George P.M., Janus E.D., Weisgraber K.H. Apolipoprotein E2-Dunedin (228Arg-Cys): an apolipoprotein E2 variant with normal receptor binding activity. J. Lipid Res. 32:1990;535-543.
21. Tajima S., Yamamura T., Menju M., Yamamoto A. Analysis of Apolipoprotein E7 (Apolipoprotein E-Suita) gene from a patient with hyperlipoproteinemia. J. Biochem. 105:1989;249-253.
22. Gianturco S.H., Gotto A.M. Jr., Hwang C., Karlin J.B., Lin Y., Prasad S.C., Bradley W.A. Apolipoprotein E mediates uptake of Sf 100-400 hypertriglyceridemic very low density lipoproteins by the low density lipoprotein pathway in normal human fibroblasts. J. Biol. Chem. 258:1983;4526-4533.
23. Westerlund J.A., Weisgraber K.H. Discrete carboxyl-terminal segments of apolipoprotein E mediate lipoprotein association and protein oligomerization. J. Biol. Chem. 268:1993;15745-15750.
24. Weisgraber K.H. Apolipoprotein E distribution among human plasma lipoproteins: role of the cysteine-arginine interchange at residue 112. J. Lipid Res. 31:1990;1503-1511.
25. Evans A.J., Sawyez C.J., Wolfe B.M., Connelly P.W., Maguire G.F., Huff M.W. Evidence that cholesteryl ester and triglyceride accumulation in J774 macrophages induced by very low density lipoproteins occurs by different mechanisms. J. Lipid Res. 34:1993;703-717.