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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1991 Feb;48(2):383–389.

No severe bottleneck during human evolution: evidence from two apolipoprotein C-II deficiency alleles.

W J Xiong 1, W H Li 1, I Posner 1, T Yamamura 1, A Yamamoto 1, A M Gotto Jr 1, L Chan 1
PMCID: PMC1683008  PMID: 1990844

Abstract

The DNA sequences of a Japanese and a Venezuelan apolipoprotein (apo) C-II deficiency allele, of a normal Japanese apo C-II gene, and of a chimpanzee apo C-II gene were amplified by PCR, and their nucleotide sequences were determined on multiple clones of the PCR products. The normal Japanese sequence is identical to--and the chimpanzee sequence differs by only three nucleotides from--a previously published normal Caucasian sequence. In contrast, the two human mutant sequences each differ from the normal apo C-II gene sequence by several nucleotides, including deletions. The data suggest that both mutant alleles arose greater than 500,000 years ago. It is shown that a defective allele can persist in a population for only a short time if a bottleneck occurs. Therefore, the antiquity of the two alleles suggests no severe bottleneck during human evolution. Moreover, the fact that one allele is from Japan and the other is from a Venezuelan Caucasian family is more consistent with the multiregional evolution model of modern human origins than with the complete replacement or "out of Africa" model.

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Selected References

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

  1. Brown W. M. Polymorphism in mitochondrial DNA of humans as revealed by restriction endonuclease analysis. Proc Natl Acad Sci U S A. 1980 Jun;77(6):3605–3609. doi: 10.1073/pnas.77.6.3605. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Cann R. L., Stoneking M., Wilson A. C. Mitochondrial DNA and human evolution. Nature. 1987 Jan 1;325(6099):31–36. doi: 10.1038/325031a0. [DOI] [PubMed] [Google Scholar]
  3. Connelly P. W., Maguire G. F., Hofmann T., Little J. A. Structure of apolipoprotein C-IIToronto, a nonfunctional human apolipoprotein. Proc Natl Acad Sci U S A. 1987 Jan;84(1):270–273. doi: 10.1073/pnas.84.1.270. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Connelly P. W., Maguire G. F., Little J. A. Apolipoprotein CIISt. Michael. Familial apolipoprotein CII deficiency associated with premature vascular disease. J Clin Invest. 1987 Dec;80(6):1597–1606. doi: 10.1172/JCI113246. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Figueroa F., Günther E., Klein J. MHC polymorphism pre-dating speciation. Nature. 1988 Sep 15;335(6187):265–267. doi: 10.1038/335265a0. [DOI] [PubMed] [Google Scholar]
  6. Fojo S. S., Stalenhoef A. F., Marr K., Gregg R. E., Ross R. S., Brewer H. B., Jr A deletion mutation in the ApoC-II gene (ApoC-II Nijmegen) of a patient with a deficiency of apolipoprotein C-II. J Biol Chem. 1988 Dec 5;263(34):17913–17916. [PubMed] [Google Scholar]
  7. Fojo S. S., de Gennes J. L., Chapman J., Parrott C., Lohse P., Kwan S. S., Truffert J., Brewer H. B., Jr An initiation codon mutation in the apoC-II gene (apoC-II Paris) of a patient with a deficiency of apolipoprotein C-II. J Biol Chem. 1989 Dec 15;264(35):20839–20842. [PubMed] [Google Scholar]
  8. Haigh J., Smith J. M. Population size and protein variation in man. Genet Res. 1972 Feb;19(1):73–89. doi: 10.1017/s0016672300014282. [DOI] [PubMed] [Google Scholar]
  9. Jones J. S., Rouhani S. Human evolution. How small was the bottleneck? Nature. 1986 Feb 6;319(6053):449–450. doi: 10.1038/319449b0. [DOI] [PubMed] [Google Scholar]
  10. Kashyap M. L., Srivastava L. S., Chen C. Y., Perisutti C. G., Campbell M., Lutmer R. F., Glueck C. J. Radioimmunoassay of human apolipoprotein CII. A study in normal and hypertriglyceridemic subjects. J Clin Invest. 1977 Jul;60(1):171–180. doi: 10.1172/JCI108753. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Kashyap M. L., Srivastava L. S., Tsang R. C., Taskinen M. R., Hynd B. A., Perisutti G., Brady D. W., Glueck C. J., Ahumada C. A., McCarthy J. A. Apolipoprotein CII in type I hyperlipoproteinemia. A study in three cases. J Lab Clin Med. 1980 Feb;95(2):180–187. [PubMed] [Google Scholar]
  12. Kimura M. Evolutionary rate at the molecular level. Nature. 1968 Feb 17;217(5129):624–626. doi: 10.1038/217624a0. [DOI] [PubMed] [Google Scholar]
  13. Li W. H., Nei M. Total number of individuals affected by a single deleterious mutation in a finite population. Am J Hum Genet. 1972 Nov;24(6 Pt 1):667–679. [PMC free article] [PubMed] [Google Scholar]
  14. Li W. H., Tanimura M. The molecular clock runs more slowly in man than in apes and monkeys. Nature. 1987 Mar 5;326(6108):93–96. doi: 10.1038/326093a0. [DOI] [PubMed] [Google Scholar]
  15. Mayer W. E., Jonker M., Klein D., Ivanyi P., van Seventer G., Klein J. Nucleotide sequences of chimpanzee MHC class I alleles: evidence for trans-species mode of evolution. EMBO J. 1988 Sep;7(9):2765–2774. doi: 10.1002/j.1460-2075.1988.tb03131.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Nei M., Imaizumi Y. Genetic structure of human populations. II. Differentiation of blood group gene frequencies among isolated populations. Heredity (Edinb) 1966 May;21(2):183–190. doi: 10.1038/hdy.1966.17. [DOI] [PubMed] [Google Scholar]
  17. Nei M., Li W. H. Probability of identical monomorphism in related species. Genet Res. 1975 Aug;26(1):31–43. doi: 10.1017/s0016672300015822. [DOI] [PubMed] [Google Scholar]
  18. Saiki R. K., Bugawan T. L., Horn G. T., Mullis K. B., Erlich H. A. Analysis of enzymatically amplified beta-globin and HLA-DQ alpha DNA with allele-specific oligonucleotide probes. Nature. 1986 Nov 13;324(6093):163–166. doi: 10.1038/324163a0. [DOI] [PubMed] [Google Scholar]
  19. Saiki R. K., Gelfand D. H., Stoffel S., Scharf S. J., Higuchi R., Horn G. T., Mullis K. B., Erlich H. A. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science. 1988 Jan 29;239(4839):487–491. doi: 10.1126/science.2448875. [DOI] [PubMed] [Google Scholar]
  20. Sanger F., Nicklen S., Coulson A. R. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci U S A. 1977 Dec;74(12):5463–5467. doi: 10.1073/pnas.74.12.5463. [DOI] [PMC free article] [PubMed] [Google Scholar]
  21. Sarich V. M., Wilson A. C. Immunological time scale for hominid evolution. Science. 1967 Dec 1;158(3805):1200–1203. doi: 10.1126/science.158.3805.1200. [DOI] [PubMed] [Google Scholar]
  22. Stringer C. B., Andrews P. Genetic and fossil evidence for the origin of modern humans. Science. 1988 Mar 11;239(4845):1263–1268. doi: 10.1126/science.3125610. [DOI] [PubMed] [Google Scholar]
  23. Wei C. F., Tsao Y. K., Robberson D. L., Gotto A. M., Jr, Brown K., Chan L. The structure of the human apolipoprotein C-II gene. Electron microscopic analysis of RNA:DNA hybrids, complete nucleotide sequence, and identification of 5' homologous sequences among apolipoprotein genes. J Biol Chem. 1985 Dec 5;260(28):15211–15221. [PubMed] [Google Scholar]
  24. 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]

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