Abstract
Epidemiological studies have shown1–3 that the plasma concentration of LDL cholesterol and apolipoprotein B-100 are positively correlated with the incidence of coronary artery disease. ApoB-100 is believed to have an important role in the alteration of lipid metabolism that may lead to premature atherosclerosis2,4. Apolipoprotein B-100 is the molecular determinant of some apoB-containing lipoproteins, serving as a recognition signal for LDL receptor-mediated endocytosis in a variety of cells5. More information on the nature of the protein is being obtained through the techniques of molecular biology. In recent years (1985–1986)6–10 the amino acid sequence of apoB-100 was deduced from the nucleotidic sequences of a number of cDNAs and genomic DNAs, which were isolated from human liver, intestine, and hepatoma libraries.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
I. Stamler, Population Studies, in: “Nutrition, Lipids and Coronary Heart Disease,” R. Levy, B. Rifkind, B. Dennis, and N. Ernse, ed., Raven Press, New York (1979).
T. F. Whayne, P. Alaupovic, M. D. Curry, E. T. Lee, P. S. Anderson, and E. Schechter, Plasma apolipoprotein B and VLDL, LDL, HDL- Cholesterol as risk factors in the development of coronary artery disease in male patients examined by angiography, Atherosclerosis 39: 411 (1981).
Lowering blood cholesterol to prevent heart disease, Consensus Conference, JAMA 253: 2080 (1985).
P. Avogaro, G. B. Bon, G. Cazzolato, G. B. Quinci, and F. Belussi, Plasma levels of apolipoprotein A-I and apolipoprotein B in human atherosclerosis, Artery 4: 385 (1978).
M. S. Brown and J. L. Goldstein, A receptor-mediated pathway for cholesterol homeostasis, Science 232: 34 (1986).
S. H. Chen, C. Y. Yang, P. F. Chen, D. Setzer, M. Tanimura, W. H. Li, A.M. Gotto, and L. Chan, The complete cDNA and amino acid sequence of human apolipoprotein B-100, J. Biol. Chem. 261: 12918 (1986).
T. J. Knott, R. J. Pease, L. M. Powell, S. C. Wallis, S. C. Roll, T. L. Innerarity, B. Blackhart, W. H. Taylor, Y. Marcel, R. Milne, D. Johnson, M. Fuller, A. J. Lusis, B. J. McCarthy, R. W. Mahley, B. Levy-Wilson, and J. Scott, Complete protein sequence and identification of structural domains of human apolipoprotein B, Nature 323: 734 (1986).
C.Y. Yang, S.H. Chen, S.H. Gianturco, W.A. Bradley, J.T. Sparrow, M. Tanimura, W. H. Li, D. A. Sparrow, H. DeLoof, M. Rosseneu, F. S. Lee, Z. W. Gu, A. M. Gotto, and L. Chan, Sequence, structure, receptor binding domains and internal repeats of human apolipoprotein B-100, Nature 323: 738 (1986).
S. W. Law, S. M. Grant, K. Higuchi, H. Hospattankar, K. Lackner, N. Lee, and H. B. Brewer, Jr., Human liver apolipoprotein B-100 cDNA: Complete nucleic acid and derived amino acid sequence, Proc. Natl. Acad. Sci. USA 83: 8142 (1986).
C. Cladaras, M. Hadzopoulos-Cladaras, R. T. Notte, D. Atkinson, and V. I. Zannis, The complete and structural analysis of human apolipoprotein B-100: Relationship between apoB-100 and apoB-48, EMBO J 5: 3495 (1986).
L. Priestley, T. Knott, S. Wallis, L. Powell, R. Pease, A. Simon, and J. Scott, RFLP for the human apolipoprotein B gene: I; Bam HI, Nucl. Acids. Res. 13: 6789 (1985).
L. Priestley, T. Knott, S. Wallis, L. Powell, R. Pease, and J. Scott, RFLP for the human apolipoprotein B gene: II; EcoRI, Nucl. Acids Res. 13: 6790 (1985).
L. Priestley, T. Knott, S. Wallis, L. Powell, R. Pease, and J. Scott, RFLP for the human apolipoprotein B gene: III, EcoRV, Nucl. Acids Res. 13: 6791 (1985).
L. Priestley, T. Knott, S. Wallis, L. Powell, R. Pease, and J. Scott, RFLP for the human apolipoprotein B gene: IV, Msp I, Nucl. Acids Res. 13: 6972 (1985).
L. Priestley, T. Knott, S. Wallis, L. Powell, R. Pease, H. Brunt, and J. Scott, RFLP for human apolipoprotein B gene: V, Xba I, Nucl. Acids Res. 13:6973 (1985).
P. M. Frossard, P. A. Gonzalez, A. A. Protter, R. T. Coleman, H. Funke, and G. Assman, Pvu II RFLP in the 5′ of the human apolipoprotein B gene, Nucl. Acids Res. 14: 4373 (1986).
C. Darnfors, J. Nilsson, A. A. Protter, P. Carlsson, P. J. Talmud, S. E. Humphries, J. Whalstrom, O. Wiklund, and G. Bjursell, RFLPs for the human apolipoprotein B gene: Hind II and Pvu II, Nucl. Acids Res. 14: 7135 (1986).
T. J. Knott, S. C. Wallis, R. J. Pease, L. M. Powell, and J. Scott, A hypervariable region 3′ to the human apolipoprotein B gene, Nucl. Acids Res. 14: 9215 (1986).
L. S. Huang and J. L. Breslow, A unique AT-rich hypervariable minisatellite 3′ to the apoB gene defines a high information restriction fragment length polymorphism, J. Biol. Chem. 262: 8952 (1987).
F. Turturro, J. Heibig, L. Chan, A. M. Gotto, and G. C. Ghiselli, A complex Hind III polymorphism in the human apolipoprotein B gene (ApoB), Nucl. Acids Res. 15: 9618 (1987).
L. S. Huang, J. deGraaf, and J. L. Breslow, ApoB gene Msp I RFLP in exon 26 changes amino acid 36 II from Arg to Gin, J. Lipid Res. 29: 63 (1988).
T. L. Innerarity, K. H. Weisgraber, S. C. Rail, Jr., and R. W. Mahley, Functional domains of apolipoprotein E and apolipoprotein B, Acta Med. Scand. Suppl. 715: 51 (1987).
B. D. Blackhart, E. M. Ludwig, V. R. Pierotti, L. Caiati, M. A. Onasch, S. C. Wallis, L. Powell, R. Pease, T. J. Knott, M. L. Chu, R. W. Mahley, J. Scott, B. J. McCarthy, and B. L. Wilson, Structure of the human apolipoprotein B gene, J. Biol. Chem. 261: 15364 (1986).
L. Chan, P. Van Tuinen, D. H. Ledbetter, S. P. Daiger, A. M. Gotto, and S. H. Chen, The human apolipoprotein B-100 gene: A highly polymorphic gene that maps to the short arm of chromosome 2, Biochem. Biophys. Res. Commun. 133: 248 (1985).
S. W. Law, K. J. Lackner, A. V. Hospattankar, J. M. Anchors, A. Y. Sakaguchi, S. L. Naylor, and H. B. Brewer, Jr., Human apolipoprotein B-100: Cloning, analysis of liver mRNA and assignment of the gene to chromosome 2, Proc. Natl. Acad. Sci. USA 82: 8340 (1985).
S. S. Deeb, C. Disteche, A. G. Motulsky, R. V. Lebo, and Y. W. Kan, Chromosomal localization of the human apolipoprotein B gene and detection of homologous RNA in monkey intestine, Proc. Natl. Acad. Sci. USA 83: 419 (1986).
L. S. Huang, D. A. Miller, G. A. P. Bruns, and J. L. Breslow, Mapping of the human apoB gene to chromosome 2p and demonstration of a two-allele restriction fragment length polymorphism, Proc., Natl. Acad. Sci. USA 83: 644 (1986).
N. Barni, P. J. Talmud, P. Carlsson, M. Azoulay, C. Darnfors, D. Harding, O. Weil, K. H. Grzeschik, G. Bjursell, C. Junien, R. Williamson, and S. E. Humphries, The isolation of genomic recombinants for the human apolipoprotein B gene and the mapping of three common DNA polymorphisms of the gene — a useful marker for human chromosome 2, Hum. Gen. 73: 313 (1986).
A. Law, L. M. Powell, H. Brunt, T. J. Knott, D. G. Altman, J. Rajput,S. C. Wallis, R. J. Pease, L. M. Priestley, J. Scott, G. J. Miller, and N. E. Miller, Common DNA polymorphism within coding sequence of apolipoprotein B gene associated with altered lipid levels, Lancet 1: 1301 (1986).
R. A. Hegele, L. S. Huang, P. N. Herbert, C. B. Blum, J. E. Buring, C. H. Hennekens, and J. L. Breslow, Apolipoprotein B gene DNA polymorphisms associated with myocardial infarction, N. Engl. J. Med. 315: 1509 (1986).
K. Berg, L. M. Powell, S. C. Wallis, R. Pease, T. J. Knott, and J. Scott, Genetic linkage between the antigenic group (Ag) variation and the apolipoprotein B gene: Assignment of the Ag locus, Proc. Natl. Acad. Sci. USA 83: 7367 (1986).
Y. Ma, V. N. Schumaker, R. Butler, and R. S. Sparkes, Two DNA restriction fragment length polymorphisms associated with Ag (t/z) and Ag (g/c) antigenic sites of human apolipoprotein B, Arteriosclerosis 7: 301 (1987).
P. J. Talmud, N. Barmi, A. M. Kessling, P. Carlsson, C. Darnfors, G. Bjursell, D. Galton, V. Wynn, H. Kirk, M. R. Hayden, and S. E. Humphries, Apolipoprotein B gene variants are involved in the determination of serum cholesterol levels: A study in normo- and hyperlipidemic individuals, Atherosclerosis 67: 81 (1987).
K. Jenner, A. Sidoli, M. Ball, J. R. Rodriguez, F. Pagani, G. Giudici, C. Vergani, J. Mann, F. E. Baralle, and C. C. Shoulders, Characterization of genetic markers in the 3′ end of the apoB gene and their use in family and population studies, Atherosclerosis 69: 39 (1988).
M. V. Monsalve, R. Young, J. Jobsis, S. A. Wiseman, S. Dhamu, J. T. Powell, R. M. Greenhalf, and S. E. Humphries, DNA polymorphisms of the gene for apolipoprotein B in patients with peripheral arterial disease, Atherosclerosis 70: 123 (1988).
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1989 Plenum Press, New York
About this chapter
Cite this chapter
Turturro, F., Heibig, J., Ghiselli, G.C., Gotto, A.M. (1989). RFLPS of ApoB Gene. 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_12
Download citation
DOI: https://doi.org/10.1007/978-1-4615-9549-6_12
Publisher Name: Springer, Boston, MA
Print ISBN: 978-1-4615-9551-9
Online ISBN: 978-1-4615-9549-6
eBook Packages: Springer Book Archive