Skip to main content
NCBI home page
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1989 Apr;44(4):504–510.

An Asian-specific 9-bp deletion of mitochondrial DNA is frequently found in Polynesians.

M Hertzberg 1, K N Mickleson 1, S W Serjeantson 1, J F Prior 1, R J Trent 1
PMCID: PMC1715592  PMID: 2929595

Abstract

One hundred fifty Polynesians from five different island groups (Samoans, Maoris, Niueans, Cook Islanders, and Tongans) were surveyed for the presence of an Asian-specific length mutation of mitochondrial (mt) DNA by using enzymatic amplification with thermostable Taq DNA polymerase. Ninety-three percent of Polynesians exhibited this 9-bp deletion, including 100% of Samoans, Maoris, and Niueans. The same deletion was also found in 8% of Tolais from New Britain and in 14% of coastal New Guineans. A deletion frequency of 82% in Fijians confirmed their ethnic affinity to Polynesians. In contrast, the deletion was absent in 30 New Guinea highlanders and 31 Australian aborigines, the only exception being an aborigine who also had the Southeast Asian triplicated zeta-globin gene rearrangement in his nuclear DNA. These data support the theories claiming that an independent group of pre-Polynesian ancestors who colonized into the Pacific were ultimately derived from east Asia.

Full text

PDF
504

Images in this article

506Figure 1
on p.506
507Figure 2
on p.507

Selected References

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

  1. Anderson S., Bankier A. T., Barrell B. G., de Bruijn M. H., Coulson A. R., Drouin J., Eperon I. C., Nierlich D. P., Roe B. A., Sanger F. Sequence and organization of the human mitochondrial genome. Nature. 1981 Apr 9;290(5806):457–465. doi: 10.1038/290457a0. [DOI] [PubMed] [Google Scholar]
  2. Brown W. M., George M., Jr, Wilson A. C. Rapid evolution of animal mitochondrial DNA. Proc Natl Acad Sci U S A. 1979 Apr;76(4):1967–1971. doi: 10.1073/pnas.76.4.1967. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. 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]
  4. 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]
  5. Cann R. L., Wilson A. C. Length mutations in human mitochondrial DNA. Genetics. 1983 Aug;104(4):699–711. doi: 10.1093/genetics/104.4.699. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Giles R. E., Blanc H., Cann H. M., Wallace D. C. Maternal inheritance of human mitochondrial DNA. Proc Natl Acad Sci U S A. 1980 Nov;77(11):6715–6719. doi: 10.1073/pnas.77.11.6715. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Hertzberg M. S., Mickleson K. N., Trent R. J. Alpha-globin gene haplotypes in Polynesians: their relationships to population groups and gene rearrangements. Am J Hum Genet. 1988 Dec;43(6):971–977. [PMC free article] [PubMed] [Google Scholar]
  8. Hill A. V., Bowden D. K., Trent R. J., Higgs D. R., Oppenheimer S. J., Thein S. L., Mickleson K. N., Weatherall D. J., Clegg J. B. Melanesians and Polynesians share a unique alpha-thalassemia mutation. Am J Hum Genet. 1985 May;37(3):571–580. [PMC free article] [PubMed] [Google Scholar]
  9. Horai S., Matsunaga E. Mitochondrial DNA polymorphism in Japanese. II. Analysis with restriction enzymes of four or five base pair recognition. Hum Genet. 1986 Feb;72(2):105–117. doi: 10.1007/BF00283927. [DOI] [PubMed] [Google Scholar]
  10. Johnson M. J., Wallace D. C., Ferris S. D., Rattazzi M. C., Cavalli-Sforza L. L. Radiation of human mitochondria DNA types analyzed by restriction endonuclease cleavage patterns. J Mol Evol. 1983;19(3-4):255–271. doi: 10.1007/BF02099973. [DOI] [PubMed] [Google Scholar]
  11. 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]
  12. 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]
  13. Serjeantson S. W., Ryan D. P., Thompson A. R. The colonization of the Pacific: the story according to human leukocyte antigens. Am J Hum Genet. 1982 Nov;34(6):904–918. [PMC free article] [PubMed] [Google Scholar]
  14. Serjeantson S. W., White B. S., Jazwinska E. C., Yenchitsomanus P. T., Mickleson K. N., Trent R. J. HLA-DR and -DQ DNA polymorphisms: new linkage relationships established by RFLP genomic typing in Polynesians and Melanesians. Hum Immunol. 1987 Oct;20(2):145–153. doi: 10.1016/0198-8859(87)90028-0. [DOI] [PubMed] [Google Scholar]
  15. Singh G., Neckelmann N., Wallace D. C. Conformational mutations in human mitochondrial DNA. Nature. 1987 Sep 17;329(6136):270–272. doi: 10.1038/329270a0. [DOI] [PubMed] [Google Scholar]
  16. Stoneking M., Bhatia K., Wilson A. C. Rate of sequence divergence estimated from restriction maps of mitochondrial DNAs from Papua New Guinea. Cold Spring Harb Symp Quant Biol. 1986;51(Pt 1):433–439. doi: 10.1101/sqb.1986.051.01.052. [DOI] [PubMed] [Google Scholar]
  17. Trent R. J., Buchanan J. G., Webb A., Goundar R. P., Seruvatu L. M., Mickleson K. N. Globin genes are useful markers to identify genetic similarities between Fijians and Pacific Islanders from Polynesia and Melanesia. Am J Hum Genet. 1988 Apr;42(4):601–607. [PMC free article] [PubMed] [Google Scholar]
  18. Trent R. J., Mickleson K. N., Wilkinson T., Yakas J., Dixon M. W., Hill P. J., Kronenberg H. Globin genes in Polynesians have many rearrangements including a recently described gamma gamma gamma gamma/. Am J Hum Genet. 1986 Sep;39(3):350–360. [PMC free article] [PubMed] [Google Scholar]
  19. Wrischnik L. A., Higuchi R. G., Stoneking M., Erlich H. A., Arnheim N., Wilson A. C. Length mutations in human mitochondrial DNA: direct sequencing of enzymatically amplified DNA. Nucleic Acids Res. 1987 Jan 26;15(2):529–542. doi: 10.1093/nar/15.2.529. [DOI] [PMC free article] [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES