The Genetics and Molecular Biology of Apolipoprotein CII

  • M. R. Hayden
  • C. Vergani
  • S. E. Humphries
  • L. Kirby
  • R. Shukin
  • R. McLeod
Part of the Advances in Experimetal Medicine and Biology book series (AEMB, volume 201)


Medium and long chain fatty acids which are released during digestion of dietary fat, circulate in the form of chylomicrons. Triglycerides are also transported as very low density lipoproteins (VLDL) which are produced in the liver. Lipoprotein lipase (LPL) catalyses the hydrolysis of triglycerides within the vascular space and this process is pivotal in the removal of triglycerides from the circulation.


Lipoprotein Lipase Myotonic Dystrophy Cytogenet Cell Aminoacid Sequence Obligate Heterozygote 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 1.
    W. Haberbosch, A. Poli, G. Baggio, R. Fellin, A. Gnasso, J. Augustin. Apolipoprotein C-II deficiency: the role of apolipoprotein C-II in the hydrolysis of triacylglycerolrich lipoproteins, Biochimica etBiophysica Acta. 793:49–60 (1984).CrossRefGoogle Scholar
  2. 2.
    P.K.J. Kinnunen, J.K. Huttunen, C. Ehnholm. Properties of purified bovine milk lipoprotein lipase, Biochem Biophys Acta. 450:342–351 (1976).PubMedCrossRefGoogle Scholar
  3. 3.
    A.L. Catapano, P.K.J. Kinnunen, W.C. Breckenridge, A.M. Gotto, R.L. Jackson, J.A. Little, L.C. Smith, J.T. Sparrow. Lipolysis of Apo C-II deficient very low density lipoproteins: enhancement of lipoprotein lipase action by synthetic fragments of Apo C-II. Biochem Biophys Res. Commun. 89:951-957.Google Scholar
  4. 4.
    C. L. Jackson, G.A.P. Bruns, J.L. Breslow. Isolation and sequence of a human apolipoprotein C-II cDNA clone and its’ use to isolate and map to chromosome 19 the gene for apolipoprotein C-II. Proct Nat’l Acad Sci. 81:2945–2949 (1984).CrossRefGoogle Scholar
  5. 5.
    L.C. Smith, J.C. Voyta, A.L. Catapano, K. Paavo, K.J. Kinnunen, A.M. Gotto, J.T. Sparow. Actuation of lipoprotein lipase by synthetic fragments of apolipoprotein C-II in Annals, NY Acad Sci. A.M. Scanu & F.R. Landshesger, Eds., 348:213–221 (1980).CrossRefGoogle Scholar
  6. 6.
    O. Myklebost, B. Williamson, A.F. Markham, S.R. Myklebost, J. Rogers, P.E. Woods, S.E. Humphries. The isolation and characterization of cDNA clones for human apolipoprotein CII, J Biol Chem. 259:4401–4404 (1984).PubMedGoogle Scholar
  7. 7.
    S.F. Fojo, S. Law, G. Baggio, R.E. Gregg, H.B. Brewer. Complete nucleotide and sequence of preapolipoprotein CII and an analysis of the apolipoprotein CII gene in Apo CII deficient patients, Arteriosclerosis. 4:562A (1984).Google Scholar
  8. 8.
    R.L. Jackson, H.N. Baker, E.B. Gilliam, A.M. Gotto. Primary structure of very low density apo CII of human plasma, Proc Nat’l Acad Sci: USA 74:1942–1945 (1977).CrossRefGoogle Scholar
  9. 9.
    J.L. Breslow. Molecular genetics of lipoprotein disorders. Circulation. 69:(6)1190–1195 (1984).PubMedCrossRefGoogle Scholar
  10. 10.
    W.C. Barker, M.O. Dayhoff, Comp Biochem Physicol. S7B:309–315 (1977).Google Scholar
  11. 11.
    G.A.P. Bruns, S.K. Karathanasis, J.L. Breslow. The human apolipoprotein A-I — CII gene complex is located on chromosome 11, Arteriosclerosis. 4:97–102 (1984).PubMedCrossRefGoogle Scholar
  12. 12.
    S.K. Karathanasis, J. McPherson, V.I. Zannis, J.L. Breslow. Linkage of human apolipoproteins A-I and CII genes, Nature. 304:371–373 (1983).PubMedCrossRefGoogle Scholar
  13. 13.
    G. Schonfeld, N. Grimme, D. Alpers. Detection of apolipoprotein C in human and rat enterocytes, J Cell Biol. 86:562–567 (1980).PubMedCrossRefGoogle Scholar
  14. 14.
    T.K. Archer, S.P. Tarn, K.V. Deugau, R.G. Deeley. Apolipoprotein CII mRNA levels in primate liver, J Biol Chem. 260:1676–1681 (1985).PubMedGoogle Scholar
  15. 15.
    B.B. Knowles, C.C. Howe, D.P. Aden. Human hepatocellular carcinoma lines secrete the major plasma proteins and hepatitis B surface antigen, Science. 209:497–499 (1980).PubMedCrossRefGoogle Scholar
  16. 16.
    K. Berg, A. Heiberg. Linkage between familial hypercholesteremia and the C3 polymorphism confirmed, Cytogenet Cell Genet. 22:621 (1978).PubMedCrossRefGoogle Scholar
  17. 17.
    U. Francke, M.S. Brown, J.L. Goldstein. Assignment of the human gene for the low density lipoprotein receptor to chromosome 19: Syntery of a receptor, a ligand and a genetic disease, Proc Nat’l Acad Sci: USA 81:2826–2830 (1984).CrossRefGoogle Scholar
  18. 18.
    J. Mohr. Estimation of linkage between the Lutheran and Lewis blood groups. Acta Pathol Microbiol Scand. 29:339–344 (1951).PubMedCrossRefGoogle Scholar
  19. 19.
    L.R. Weitkamp, E. Johnston, S.A. Guttormsen. Probable genetic linkage between the loci for the Lewis blood group and complement C3, Cytogenet Cell Genet. 13:183–184 (1974).PubMedCrossRefGoogle Scholar
  20. 20.
    P.J. McAlpine, T. Mohandas, M. Ray, H. Wang, J.L. Hamerton. Assignment of the peptidase D gene locus to chromosome 19 in man. Cytogenet CellGenet. 16:204–205 (1975).CrossRefGoogle Scholar
  21. 21.
    K. Simola, A. de la Chapelle, A. Pirkola, P. Karli, P.I.L. Cook, P.A. Tippett. Data on DM-Le Linkage, Cytogenet Cell Genet. 32:317 (1982).Google Scholar
  22. 22.
    S.E. Humphries, K. Berg, L. Gill, A.M. Cumming, F.W. Robertson, A.F.H. Stalenhoef, R. Williamson, A.L. Borneser. The gene for apolipoprotein CII is closely linked to the gene for apolipoprotein E on chromosome 19, Clin Genet. 26:389–396 (1984).PubMedCrossRefGoogle Scholar
  23. 23.
    J.A. Donald, S.C. Wallis, A. Kessling, P. Tippett, E.B. Robson, S. Ball, K.E. Davies, P. Scambler, K. Berg, A. Heiberg, R. Williamson, S.E. Humphries. Linkage relationships of the gene for apolipoprotein CII with loci on chromosome 19. Hum Genet. In press (1985).Google Scholar
  24. 24.
    A. Roses. Personal Communication.Google Scholar
  25. 25.
    V.L. Zannis, J.L. Breslow, J. Ordovas, S.K. Karathanasis. Isolation and sequence of Tangier apo A-1 gene, Arteriosclerosis. 4:562A (1984).Google Scholar
  26. 26.
    S.E. Humphries, N.I. Jowett, L. Williams, A. Rees, M. Vella, A. Kessling, O. Myklebost, A. Lydon, M. Seed, D.J. Galton, R. Williamson. A DNA polymorphism adjacent to the human apolipoprotein CII gene, Mol. Biol. Med. 1:463–467 (1983).PubMedGoogle Scholar
  27. 27.
    S.E. Humphries, L. Williams, O. Myklebost, A.F.H. Stalenhoef, D.N.M. Demarker, G. Baggio, G. Crepaldi, D.J. Galton, R. Williamson. Familial apolipoprotein CII deficiency: A preliminary analysis of the gene defect in two independent families, Hum Genet. 67:151–155 (1984).PubMedCrossRefGoogle Scholar
  28. 28.
    M.R. Hayden. Unpublished results.Google Scholar
  29. 29.
    S.S. Fojo, S.W. Law, G. Baggio, D.L. Sprecher, L. Taam, H.B. Brewer. Apolipoprotein CII deficiency: Identification of two kindred with an abnormal apolipoprotein CII, Clin Res. 33:569A (1985).Google Scholar
  30. 30.
    W.C. Breckenridge, J.A. Little, G. Steiner, A. Chow, M. Poapst. Hypertriglyceridemia associated with deficiency of apolipoprotein CII, N Engl J Med. 298:1265–1273 (1978).PubMedCrossRefGoogle Scholar
  31. 31.
    T. Yamamura, H. Sudo, K. Ishikawa, A. Yamamoto. Familial type I hyperlipoproteinemia caused by apolipoprotein CII deficiency, Atherosclerosis. 34:53–65 (1979).PubMedCrossRefGoogle Scholar
  32. 32.
    G. Crepaldi, R. Fellen, G. Baggio, J. Augustin, H. Greten. Lipoprotein and apoprotein, adipose tissue and hepatic lipoprotein lipase levels in patients with familial hyperchylomicronemia and other immediate family members. In: Atherosclerosis, Springer-Verlag 250-254 (1980).Google Scholar
  33. 33.
    A.F.H. Stalenhoef, A.F. Casparie, P.N.M. Demacker, J.T.J. Stouten, J.A. Lutterman, A. van’t Laar. Combined deficiency of apolipoprotein CII and lipoprotein lipase in familial chylomicronemia. Metabolism. 30:919–926 (1981).PubMedCrossRefGoogle Scholar
  34. 34.
    N.E. Miller, S.N. Rao, P. Alaupovic, N. Noble, J. Slack, J.D. Brunzell, B. Lewis. Familial apolipoprotein CII deficiency: plasma lipoproteins and apolipoproteins in heterozygous and homozygous subjects and the effects of plasma infusion, Eur J Clin Invest. 11:69–76 (1981).PubMedCrossRefGoogle Scholar
  35. 35.
    A.L. Catapano, G.L. Mills, P. Roma, M. LaRosa, A. Capurso. Plasma lipids, lipoproteins and apoproteins in a case of apo CII deficiency, Clin Chem Acta. 130:317–327 (1983).CrossRefGoogle Scholar
  36. 36.
    K. Saku, C. Ledres, B. McDonald, B.A. Hynd, B.W. Liu, C.S. Srivastaia, M.L. Kashyap. CII, an apolipoproteinemia and severe hypertriglyceridemia, Am J Med. 77:457–462 (1984).PubMedCrossRefGoogle Scholar
  37. 37.
    R. Rebouriet, J.L. Bresson, F. Rey, R. Benbrahem, J. Rey. Apolipoprotein CII deficiency and type V hyperlipoproteinemia. (submitted).Google Scholar
  38. 38.
    J.R. Havel, L. Kotite, J.P. Kane, Biochem Med. 21:121–128 (1979).PubMedCrossRefGoogle Scholar
  39. 39.
    G.F. Maguire, A. Little, G. Katis, W.C. Breckenridge. Apolipoprotein CII deficiency associated with nonfunctional mutant forms of apolipoprotein CII, Can J Bioch Cell Biol. 62:847–851 (1984).CrossRefGoogle Scholar
  40. 40.
    W.C. Breckenridge, R. McLeod, M.R. Hayden. Unpublished results.Google Scholar

Copyright information

© Springer Science+Business Media New York 1986

Authors and Affiliations

  • M. R. Hayden
    • 1
  • C. Vergani
    • 2
  • S. E. Humphries
    • 3
  • L. Kirby
    • 4
  • R. Shukin
    • 4
  • R. McLeod
    • 4
  1. 1.Department of Medical GeneticsVancouverCanada
  2. 2.University of MilanItaly
  3. 3.Charing Cross Research Medical CentreLondonUK
  4. 4.Department of PathologyVancouverCanada

Personalised recommendations