• We are sorry, but NCBI web applications do not support your browser and may not function properly. More information
Logo of ajhgLink to Publisher's site
Am J Hum Genet. Dec 1995; 57(6): 1463–1475.
PMCID: PMC1801401

The origins of the Polynesians: an interpretation from mitochondrial lineage analysis.


Using mitochondrial lineage analysis of 1,178 individuals from Polynesia, the western Pacific, and Taiwan, we show that the major prehistoric settlement of Polynesia was from the west and involved two or possibly three genetically distinct populations. The predominant lineage group, accounting for 94% of Polynesian mtDNA, shares a 9-bp COII/tRNA(Lys) intergenic deletion and characteristic control region transition variants, compared to the Cambridge reference sequence. In Polynesia, the diversity of this group is extremely restricted, while related lineages in Indonesia, the Philippines, and Taiwan are increasingly diverse. This suggests a relatively recent major eastward expansion into Polynesia, perhaps originating from Taiwan, in agreement with archeological and linguistic evidence, but which experienced one or more severe population bottlenecks. The second mitochondrial lineage group, accounting for 3.5% of Polynesian mtDNA haplotypes, does not have the 9-bp deletion and its characterized by an A-C transversional variant at nt position 16265. Specific oligonucleotides for this variant were used to select individuals from the population sample who, with other sequences, show that the Polynesian lineages were part of a diverse group in Vanuatu and Papua New Guinea. The very low overall diversity of both lineage groups in Polynesia suggests there was severe population restriction during the colonization of remote Oceania. A third group, represented by only four individuals (0.6%) in Polynesia but also present in the Philippines, shares variants at nt positions 16172 and 16304. Two Polynesians had unrelated haplotypes matching published sequences from native South Americans, which may be the first genetic evidence of prehistoric human contact between Polynesia and South America.

Full text

Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (1.8M), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References.

Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, et al. Sequence and organization of the human mitochondrial genome. Nature. 1981 Apr 9;290(5806):457–465. [PubMed]
  • Avise JC. Ten unorthodox perspectives on evolution prompted by comparative population genetic findings on mitochondrial DNA. Annu Rev Genet. 1991;25:45–69. [PubMed]
  • Bandelt HJ, Forster P, Sykes BC, Richards MB. Mitochondrial portraits of human populations using median networks. Genetics. 1995 Oct;141(2):743–753. [PMC free article] [PubMed]
  • Bertranpetit J, Sala J, Calafell F, Underhill PA, Moral P, Comas D. Human mitochondrial DNA variation and the origin of Basques. Ann Hum Genet. 1995 Jan;59(Pt 1):63–81. [PubMed]
  • Di Rienzo A, Wilson AC. Branching pattern in the evolutionary tree for human mitochondrial DNA. Proc Natl Acad Sci U S A. 1991 Mar 1;88(5):1597–1601. [PMC free article] [PubMed]
  • Ginther C, Corach D, Penacino GA, Rey JA, Carnese FR, Hutz MH, Anderson A, Just J, Salzano FM, King MC. Genetic variation among the Mapuche Indians from the Patagonian region of Argentina: mitochondrial DNA sequence variation and allele frequencies of several nuclear genes. EXS. 1993;67:211–219. [PubMed]
  • Hagelberg E, Clegg JB. Genetic polymorphisms in prehistoric Pacific islanders determined by analysis of ancient bone DNA. Proc Biol Sci. 1993 May 22;252(1334):163–170. [PubMed]
  • Hertzberg M, Mickleson KN, Serjeantson SW, Prior JF, Trent RJ. An Asian-specific 9-bp deletion of mitochondrial DNA is frequently found in Polynesians. Am J Hum Genet. 1989 Apr;44(4):504–510. [PMC free article] [PubMed]
  • Hewett DR, Lynch JR, Child A, Sykes BC. A new missense mutation of fibrillin in a patient with Marfan syndrome. J Med Genet. 1994 Apr;31(4):338–339. [PMC free article] [PubMed]
  • Hill AV, Gentile B, Bonnardot JM, Roux J, Weatherall DJ, Clegg JB. Polynesian origins and affinities: globin gene variants in eastern Polynesia. Am J Hum Genet. 1987 May;40(5):453–463. [PMC free article] [PubMed]
  • Horai S, Hayasaka K. Intraspecific nucleotide sequence differences in the major noncoding region of human mitochondrial DNA. Am J Hum Genet. 1990 Apr;46(4):828–842. [PMC free article] [PubMed]
  • Lum JK, Rickards O, Ching C, Cann RL. Polynesian mitochondrial DNAs reveal three deep maternal lineage clusters. Hum Biol. 1994 Aug;66(4):567–590. [PubMed]
  • Morin PA, Moore JJ, Chakraborty R, Jin L, Goodall J, Woodruff DS. Kin selection, social structure, gene flow, and the evolution of chimpanzees. Science. 1994 Aug 26;265(5176):1193–1201. [PubMed]
  • Shields GF, Schmiechen AM, Frazier BL, Redd A, Voevoda MI, Reed JK, Ward RH. mtDNA sequences suggest a recent evolutionary divergence for Beringian and northern North American populations. Am J Hum Genet. 1993 Sep;53(3):549–562. [PMC free article] [PubMed]
  • Stoneking M, Hedgecock D, Higuchi RG, Vigilant L, Erlich HA. Population variation of human mtDNA control region sequences detected by enzymatic amplification and sequence-specific oligonucleotide probes. Am J Hum Genet. 1991 Feb;48(2):370–382. [PMC free article] [PubMed]
  • Stoneking M, Jorde LB, Bhatia K, Wilson AC. Geographic variation in human mitochondrial DNA from Papua New Guinea. Genetics. 1990 Mar;124(3):717–733. [PMC free article] [PubMed]
  • Tajima F. Statistical method for testing the neutral mutation hypothesis by DNA polymorphism. Genetics. 1989 Nov;123(3):585–595. [PMC free article] [PubMed]
  • Trent RJ, Buchanan JG, Webb A, Goundar RP, Seruvatu LM, Mickleson KN. 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]
  • Ward RH, Frazier BL, Dew-Jager K, Päbo S. Extensive mitochondrial diversity within a single Amerindian tribe. Proc Natl Acad Sci U S A. 1991 Oct 1;88(19):8720–8724. [PMC free article] [PubMed]
  • Vigilant L, Pennington R, Harpending H, Kocher TD, Wilson AC. Mitochondrial DNA sequences in single hairs from a southern African population. Proc Natl Acad Sci U S A. 1989 Dec;86(23):9350–9354. [PMC free article] [PubMed]
  • Wrischnik LA, Higuchi RG, Stoneking M, Erlich HA, Arnheim N, Wilson AC. Length mutations in human mitochondrial DNA: direct sequencing of enzymatically amplified DNA. Nucleic Acids Res. 1987 Jan 26;15(2):529–542. [PMC free article] [PubMed]

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


Related citations in PubMed

See reviews...See all...

Cited by other articles in PMC

See all...


  • MedGen
    Related information in MedGen
  • Nucleotide
    Published Nucleotide sequences
  • PubMed
    PubMed citations for these articles

Recent Activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...