Influence of polymorphism Q3405E and mutation A3371V in the apolipoprotein B gene on LDL receptor binding

Atherosclerosis

Volumn 137, Issue 1, 1998, Pages 167-174

  Gaffney, Dairena ^a   Hoffs, Michael S ^a   Cameron, Isobel M ^a   Stewart, Grace ^a   O'Reilly, Denis St J ^a   Packard, Christopher J ^a  

^a NHS GREATER GLASGOW AND CLYDE   (United Kingdom)

Author keywords

Binding assay; Denaturing gradient gel electrophoresis; Familial defective apolipoprotein B; U937 cells

Indexed keywords

APOLIPOPROTEIN B; LOW DENSITY LIPOPROTEIN RECEPTOR;

ADULT; AGED; ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; FEMALE; GENE MUTATION; HETEROZYGOTE; HUMAN; HUMAN CELL; HYPERLIPIDEMIA; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; PROTEIN LIPID INTERACTION;

ADULT; AGED; ALANINE; AMINO ACID SUBSTITUTION; APOLIPOPROTEINS B; DNA; DNA MUTATIONAL ANALYSIS; FAMILY; FAMILY HEALTH; FEMALE; GENE FREQUENCY; GLUTAMIC ACID; GLUTAMINE; HAPLOTYPES; HUMANS; HYPERLIPIDEMIAS; LEUCINE; LIPOPROTEINS, LDL; MALE; MIDDLE AGED; POINT MUTATION; POLYMORPHISM, GENETIC; PROTEIN BINDING; RECEPTORS, LDL; VALINE;

EID: 0032478145     PISSN: 00219150     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0021-9150(97)00242-6     Document Type: Article

References (18)

1. Milne R., Theolis R. Jr., Maurice R., Pease R.J., Weech P.K., Rassart E., Fruchart J.-C., Scott J., Marcel Y.L. The use of monoclonal antibodies to localize the low density lipoprotein receptor-binding domain of apolipoprotein B. J Biol Chem. 33:1989;19754-19760.
2. Soria L.F., Ludwig E.H., Clarke H.R.G., Vega G.L., Grundy S.M., McCarthy B.J. Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100. Proc Natl Acad Sci USA. 86:1989;587-591.
3. Gaffney D., Reid J.M., Cameron I.M., Vass K., Caslake M.J., Shepherd J., Packard C.J. Independent mutations at codon 3500 of the Apolipoprotein B gene are associated with hyperlipidaemia. Arterioscler Thromb Vasc Biol. 15:1995;1025-1029.
4. Pullinger C.R., Hennessy L.K., Chatterton J.E., Liu W., Love J.A., Mendel C.M., Frost P.H., Malloy M.J., Schumaker V.N., Kane J.P. Familial ligand-defective apolipoprotein B: Identification of a new mutation that decreases LDL receptor binding affinity. J Clin Invest. 95:1995;1223-1234.
5. Knott T.J., Wallis S.C., Powell L.M., Pease R.M., Lusis A.J., Blackhart B., McCarthy B.J., Mahley R.W., Levy-Wilson B., Scott J. Complete cDNA and derived protein sequence of human apolipoprotein B-100. Nucleic Acids Res. 14:1986;7501-7503.
6. Betteridge D.J., Bhatnager B., Bing R.F., Durrington P.N., Evans G.R., Flax H., Jay R.H., Lewis-Barned N., Mann J., Matthews D.R., Miller J.P., Reckless J.P.D., Sturley R., Taylor K.G., Winder A.F. Treatment of familial hypercholesterolaemia. United Kingdom lipid clinics study of pravastatin and cholestyramine. Br Med J. 304:1992;1335-1338.
7. Mann J.I., Lewis B., Shepherd J., Winder A.F., Fenster S., Rose L., Morgan B. Blood lipid concentrations and other cardiovascular risk factors: distribution, prevalence, and detection in Britain. Br Med J. 296:1988;1702-1706.
8. Myers R.M., Maniatis T., Lerman L.S. Detection and localization of single base pair changes by denaturing gradient gel electrophoresis. Methods Enzymol. 155:1987;501-527.
9. Series J.J., Gaffney D., Packard C.J., Shepherd J. Frequency of the XbaI, EcoRI PvuII and MspI polymorphisms of the apolipoprotein-B gene in relation to hypercholesterolaemia in the general population. Chin Chim Acta. 215:1993;89-98.
10. Ludwig E.H., McCarthy B.J. Haplotype analysis of the human apolipoprotein B mutation associated with familial defective apolipoprotein B100. Am J Hum Genet. 47:1990;712-720.
11. Lipid Research Clinics Program. Lipid and Lipoprotein Analysis. Manual of Laboratory Operations, vol. 1. Department of Health, Education and Welfare Publication No. 75-628. Bethesda, MD: National Institutes of Health, 1974.
12. Schewe C.K., Schuster H., Hailer S., Wolfram G., Keller C., Zollner N. Identification of defective binding of low density lipoprotein by the U937 proliferation assay in German patients with familial defective apolipoprotein B-100. Eur J Clin Invest. 24:1994;36-41.
13. Minitab Reference Manual, Release 10 for Windows. USA Minitab© Inc. 1994.
14. Galeano N.F., Milne R., Marcel Y.L., Walsh M.T., Levy E., Nguyeu T.D., Gleeson A., Arad Y., Witte L., Altladeri M., Rumsey S.C., Deckelbaum R.J. Apoprotein B structure and receptor recognition of triglyceride-rich low density lipoprotein (LDL) is modified in small LDL but not in triglyceride-rich LDL of normal size. J Biol Chem. 269:1994;511-519.
15. Ma Y., Schumaker V.N., Butler R., Sparkes R.S. Two DNA restriction fragment length polymorphisms associated with Ag(t/z) and Ag(g/c) antigenic sites of human apolipoprotein B. Arteriosclerosis. 7:1987;301-305.
16. Talmud P.J., Barni N., Kessling A.M., Carlsson P., Darnfors C., Bjursell G., Galton D., Wynn V.B., Kirk H., Hayden M.R., Humphries S.E. Apolipoprotein B gene variants are involved in the determination of serum cholesterol levels: a study in normo and hyperlipidaemic individuals. Atherosclerosis. 67:1987;81-89.
17. Poirier O., Richard S., Behague I., Souriau C., Evans A.E., Arveiler D., Marques-Vidal P., Luc G., Roizes G., Cambien F. Detection of new variants in the apolipoprotein B (Apo B) gene by PCR-SSCP. Hum Mutat. 8:1996;282-285.
18. Pullinger C.R., Love J.A., Liu W., Hennessy L.K., Ghassemzedeh M., Newcomb K.C., Illingworth D.R., Kane J.P. The apolipoprotein B Q3405E polymorphism has no effect on its low-density-lipoprotein receptor binding affinity. Hum Genet. 98:1996;678-680.