Skip to main content
NCBI home page
Proceedings of the National Academy of Sciences of the United States of America logoLink to Proceedings of the National Academy of Sciences of the United States of America
. 1984 May;81(10):2945–2949. doi: 10.1073/pnas.81.10.2945

Isolation and sequence of a human apolipoprotein CII cDNA clone and its use to isolate and map to human chromosome 19 the gene for apolipoprotein CII.

C L Jackson, G A Bruns, J L Breslow
PMCID: PMC345197  PMID: 6328478

Abstract

cDNA clones encoding human apolipoprotein CII (apo CII) were identified by screening an adult human liver cDNA library with a mixed oligonucleotide probe corresponding to all possible codons for apo CII amino acid 6-10. One clone with an approximately equal to 500-base-pair (bp) insert, designated pCII -711, was selected for DNA sequence analysis. This clone contained a DNA sequence that corresponded with the previously reported amino acid sequence of apo CII with only minor differences. The DNA sequence specified a polypeptide of 79 amino acids, compared to the 78 amino acids previously reported. The pCII -711 clone contains a 36-bp DNA sequence upstream from that specifying the NH2-terminal threonine which, when read in frame, specifies the amino acid sequence Leu-Val-Leu-Leu-Val-Leu-Gly-Phe-Glu-Val-Gln-Gly and may be part of an apo CII signal peptide. The pCII -711 clone also contains a 144-bp region that corresponds to the 3' untranslated region of apo CII mRNA as well as a portion of the poly(A) tail. Clone pCII -711 was used to isolate and characterize by restriction endonuclease digestion the gene for apo CII from a human genomic library. In addition, through Southern blot analysis of DNA from human-rodent somatic cell hybrids, clone pCII -711 also was used to provisionally map the gene for apo CII to human chromosome 19.

Full text

PDF
2945

Images in this article

2947Image
on p.2947
2948Image
on p.2948

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Barker W. C., Dayhoff M. O. Evolution of lipoproteins deduced from protein sequence data. Comp Biochem Physiol B. 1977;57(4):309–315. doi: 10.1016/0305-0491(77)90060-8. [DOI] [PubMed] [Google Scholar]
  2. Berg K., Heiberg A. Linkage between familial hypercholesterolemia with xanthomatosis and the C3 polymorphism confirmed. Cytogenet Cell Genet. 1978;22(1-6):621–623. doi: 10.1159/000131037. [DOI] [PubMed] [Google Scholar]
  3. Birnboim H. C., Doly J. A rapid alkaline extraction procedure for screening recombinant plasmid DNA. Nucleic Acids Res. 1979 Nov 24;7(6):1513–1523. doi: 10.1093/nar/7.6.1513. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Breckenridge W. C., Little J. A., Steiner G., Chow A., Poapst M. Hypertriglyceridemia associated with deficiency of apolipoprotein C-II. N Engl J Med. 1978 Jun 8;298(23):1265–1273. doi: 10.1056/NEJM197806082982301. [DOI] [PubMed] [Google Scholar]
  5. Breslow J. L., Ross D., McPherson J., Williams H., Kurnit D., Nussbaum A. L., Karathanasis S. K., Zannis V. I. Isolation and characterization of cDNA clones for human apolipoprotein A-I. Proc Natl Acad Sci U S A. 1982 Nov;79(22):6861–6865. doi: 10.1073/pnas.79.22.6861. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Bruns G. A., Mintz B. J., Leary A. C., Regina V. M., Gerald P. S. Expression of human arylsulfatase-A in man-hamster somatic cell hybrids. Cytogenet Cell Genet. 1978;22(1-6):182–185. doi: 10.1159/000130931. [DOI] [PubMed] [Google Scholar]
  7. Cox D. W., Breckenridge W. C., Little J. A. Inheritance of apolipoprotein C-II deficiency with hypertriglyceridemia and pancreatitis. N Engl J Med. 1978 Dec 28;299(26):1421–1424. doi: 10.1056/NEJM197812282992601. [DOI] [PubMed] [Google Scholar]
  8. D'Eustachio P., Ruddle F. H. Somatic cell genetics and gene families. Science. 1983 May 27;220(4600):919–924. doi: 10.1126/science.6573776. [DOI] [PubMed] [Google Scholar]
  9. Havel R. J., Kotite L., Kane J. P. Isoelectric heterogeneity of the cofactor protein for lipoprotein lipase in human blood plasma. Biochem Med. 1979 Feb;21(1):121–138. doi: 10.1016/0006-2944(79)90063-2. [DOI] [PubMed] [Google Scholar]
  10. Havel R. J., Shore V. G., Shore B., Bier D. M. Role of specific glycopeptides of human serum lipoproteins in the activation of lipoprotein lipase. Circ Res. 1970 Oct;27(4):595–600. doi: 10.1161/01.res.27.4.595. [DOI] [PubMed] [Google Scholar]
  11. Ingram P. H., Bruns G. A., Regina V. M., Eisenman R. E., Gerald P. S. Expression of alpha-D-mannosidase in man-hamster somatic cell hybrids. Biochem Genet. 1977 Jun;15(5-6):455–476. doi: 10.1007/BF00520191. [DOI] [PubMed] [Google Scholar]
  12. Jackson R. L., Baker H. N., Gilliam E. B., Gotto A. M., Jr Primary structure of very low density apolipoprotein C-II of human plasma. Proc Natl Acad Sci U S A. 1977 May;74(5):1942–1945. doi: 10.1073/pnas.74.5.1942. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Kanda N., Schreck R., Alt F., Bruns G., Baltimore D., Latt S. Isolation of amplified DNA sequences from IMR-32 human neuroblastoma cells: facilitation by fluorescence-activated flow sorting of metaphase chromosomes. Proc Natl Acad Sci U S A. 1983 Jul;80(13):4069–4073. doi: 10.1073/pnas.80.13.4069. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Karathanasis S. K., McPherson J., Zannis V. I., Breslow J. L. Linkage of human apolipoproteins A-I and C-III genes. 1983 Jul 28-Aug 3Nature. 304(5924):371–373. doi: 10.1038/304371a0. [DOI] [PubMed] [Google Scholar]
  15. Karathanasis S. K., Norum R. A., Zannis V. I., Breslow J. L. An inherited polymorphism in the human apolipoprotein A-I gene locus related to the development of atherosclerosis. Nature. 1983 Feb 24;301(5902):718–720. doi: 10.1038/301718a0. [DOI] [PubMed] [Google Scholar]
  16. Karathanasis S. K., Zannis V. I., Breslow J. L. A DNA insertion in the apolipoprotein A-I gene of patients with premature atherosclerosis. 1983 Oct 27-Nov 2Nature. 305(5937):823–825. doi: 10.1038/305823a0. [DOI] [PubMed] [Google Scholar]
  17. Kinnunen P. K., Jackson R. L., Smith L. C., Gotto A. M., Jr, Sparrow J. T. Activation of lipoprotein lipase by native and synthetic fragments of human plasma apolipoprotein C-II. Proc Natl Acad Sci U S A. 1977 Nov;74(11):4848–4851. doi: 10.1073/pnas.74.11.4848. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. Kurnit D. M., Philipp B. W., Bruns G. A. Confirmation of the mapping assignment of human serum albumin to chromosome 4 using a cloned human albumin gene. Cytogenet Cell Genet. 1982;34(4):282–288. doi: 10.1159/000131818. [DOI] [PubMed] [Google Scholar]
  19. LaRosa J. C., Levy R. I., Herbert P., Lux S. E., Fredrickson D. S. A specific apoprotein activator for lipoprotein lipase. Biochem Biophys Res Commun. 1970 Oct 9;41(1):57–62. doi: 10.1016/0006-291x(70)90468-7. [DOI] [PubMed] [Google Scholar]
  20. Latt S. A., Willard H. F., Gerald P. S. BrdU-33258 Hoechst analysis of DNA replication in human lymphocytes with supernumerary or structurally abnormal X chromosomes. Chromosoma. 1976 Aug 17;57(2):135–153. doi: 10.1007/BF00292912. [DOI] [PubMed] [Google Scholar]
  21. Maniatis T., Hardison R. C., Lacy E., Lauer J., O'Connell C., Quon D., Sim G. K., Efstratiadis A. The isolation of structural genes from libraries of eucaryotic DNA. Cell. 1978 Oct;15(2):687–701. doi: 10.1016/0092-8674(78)90036-3. [DOI] [PubMed] [Google Scholar]
  22. Maxam A. M., Gilbert W. Sequencing end-labeled DNA with base-specific chemical cleavages. Methods Enzymol. 1980;65(1):499–560. doi: 10.1016/s0076-6879(80)65059-9. [DOI] [PubMed] [Google Scholar]
  23. Miller N. E., Rao S. N., Alaupovic P., Noble N., Slack J., Brunzell J. D., Lewis B. Familial apolipoprotein CII deficiency: plasma lipoproteins and apolipoproteins in heterozygous and homozygous subjects and the effects of plasma infusion. Eur J Clin Invest. 1981 Feb;11(1):69–76. doi: 10.1111/j.1365-2362.1981.tb01768.x. [DOI] [PubMed] [Google Scholar]
  24. Musliner T. A., Church E. C., Herbert P. N., Kingston M. J., Shulman R. S. Lipoprotein lipase cofactor activity of a carboxyl-terminal peptide of apolipoprotein C-II. Proc Natl Acad Sci U S A. 1977 Dec;74(12):5358–5362. doi: 10.1073/pnas.74.12.5358. [DOI] [PMC free article] [PubMed] [Google Scholar]
  25. Nilsson-Ehle P., Garfinkel A. S., Schotz M. C. Lipolytic enzymes and plasma lipoprotein metabolism. Annu Rev Biochem. 1980;49:667–693. doi: 10.1146/annurev.bi.49.070180.003315. [DOI] [PubMed] [Google Scholar]
  26. Olaisen B., Teisberg P., Gedde-Dahl T., Jr The locus for apolipoprotein E (apoE) is linked to the complement component C3 (C3) locus on chromosome 19 in man. Hum Genet. 1982;62(3):233–236. doi: 10.1007/BF00333526. [DOI] [PubMed] [Google Scholar]
  27. Ott J., Schrott H. G., Goldstein J. L., Hazzard W. R., Allen F. H., Jr, Falk C. T., Motulsky A. G. Linkage studies in a large kindred with familial hypercholesterolemia. Am J Hum Genet. 1974 Sep;26(5):598–603. [PMC free article] [PubMed] [Google Scholar]
  28. Rees A., Shoulders C. C., Stocks J., Galton D. J., Baralle F. E. DNA polymorphism adjacent to human apoprotein A-1 gene: relation to hypertriglyceridaemia. Lancet. 1983 Feb 26;1(8322):444–446. doi: 10.1016/s0140-6736(83)91440-x. [DOI] [PubMed] [Google Scholar]
  29. Rigby P. W., Dieckmann M., Rhodes C., Berg P. Labeling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase I. J Mol Biol. 1977 Jun 15;113(1):237–251. doi: 10.1016/0022-2836(77)90052-3. [DOI] [PubMed] [Google Scholar]
  30. Shows T. B., McAlpine P. J. The 1981 catalogue of assigned human genetic markers and report of the nomenclature committee. Oslo Conference (1981): Sixth International Workshop on Human Gene Mapping. Cytogenet Cell Genet. 1982;32(1-4):221–245. doi: 10.1159/000131702. [DOI] [PubMed] [Google Scholar]
  31. Smith L. C., Pownall H. J., Gotto A. M., Jr The plasma lipoproteins: structure and metabolism. Annu Rev Biochem. 1978;47:751–757. doi: 10.1146/annurev.bi.47.070178.003535. [DOI] [PubMed] [Google Scholar]
  32. Stalenhoef A. F., Casparie A. F., Demacker P. N., Stouten J. T., Lutterman J. A., van 't Laar A. Combined deficiency of apolipoprotein C-II and lipoprotein lipase in familial hyperchylomicronemia. Metabolism. 1981 Sep;30(9):919–926. doi: 10.1016/0026-0495(81)90072-x. [DOI] [PubMed] [Google Scholar]
  33. Westerveld A., Naylor S. Report of the Committee on the Genetic Constitution of Chromosomes 18, 19, 20, 21, and 22. Cytogenet Cell Genet. 1984;37(1-4):155–175. doi: 10.1159/000132008. [DOI] [PubMed] [Google Scholar]
  34. Whitehead A. S., Bruns G. A., Markham A. F., Colten H. R., Woods D. E. Isolation of human C-reactive protein complementary DNA and localization of the gene to chromosome 1. Science. 1983 Jul 1;221(4605):69–71. doi: 10.1126/science.6857266. [DOI] [PubMed] [Google Scholar]
  35. Whitehead A. S., Solomon E., Chambers S., Bodmer W. F., Povey S., Fey G. Assignment of the structural gene for the third component of human complement to chromosome 19. Proc Natl Acad Sci U S A. 1982 Aug;79(16):5021–5025. doi: 10.1073/pnas.79.16.5021. [DOI] [PMC free article] [PubMed] [Google Scholar]
  36. Woods D. E., Markham A. F., Ricker A. T., Goldberger G., Colten H. R. Isolation of cDNA clones for the human complement protein factor B, a class III major histocompatibility complex gene product. Proc Natl Acad Sci U S A. 1982 Sep;79(18):5661–5665. doi: 10.1073/pnas.79.18.5661. [DOI] [PMC free article] [PubMed] [Google Scholar]
  37. Yamamura T., Sudo H., Ishikawa K., Yamamoto A. Familial type I hyperlipoproteinemia caused by apolipoprotein C-II deficiency. Atherosclerosis. 1979 Sep;34(1):53–65. doi: 10.1016/0021-9150(79)90106-0. [DOI] [PubMed] [Google Scholar]

Articles from Proceedings of the National Academy of Sciences of the United States of America are provided here courtesy of National Academy of Sciences

RESOURCES