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Mitochondrial DNA polymorphisms in nine aboriginal groups of Taiwan: implications for the population history of aboriginal Taiwanese

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Abstract

Mitochondrial DNA (mtDNA) polymorphisms in the D-loop region and the intergenic COII/tRNALys 9-bp deletion were examined in 180 individuals from all nine aboriginal Taiwanese groups: Atayal, Saisiat, Bunun, Tsou, Rukai, Paiwan, Ami, Puyuma, and Yami. A comparison of 563-bp sequences showed that there were 61 different sequence types, of which 42 types were specific to respective aboriginal groups. D-loop sequence variation and phylogenetic analysis enabled the 180 aboriginal lineages to be classified into eight monophyletic clusters (designated C1–C8). Phylogeographic analysis revealed that two (C2 and C4) of the eight clusters were new characteristic clusters of aboriginal Taiwanese and accounted for 8.3% and 13.9% of the aboriginal lineages, respectively. From the estimated coalescent times for the two unique clusters, the mtDNA lineages leading to such clusters were inferred to have been introduced into Taiwan approximately 11,000–26,000 years ago, suggesting ancient immigrations of the two mtDNA lineages. Genetic distances, based on net nucleotide diversities between populations, revealed three distinct clusters that were comprised of northern mountain (Atayal and Saisiat), southern mountain (Rukai and Paiwan), and middle mountain/east coast (Bunun, Tsou, Ami, Puyuma, and Yami) groups, respectively. Furthermore, phylogenetic analysis of 16 human populations (including six other Asian populations and one African population) confirmed that the three clusters for aboriginal Taiwanese had remained largely intact. Each of the clusters (north, south, and middle-east coast) was characterized by a high frequency of a particular lineage (C4, C2, and 9-bp deletion, respectively). This may result from random genetic drift among the aboriginal groups after a single introduction of all the mtDNA lineages into Taiwan, but another plausible explanation is that at least three genetically distinct ancestral populations have contributed to the maternal gene pool of aboriginal Taiwanese.

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Acknowledgements

We thank Ms. Naoko Anaguchi for technical assistance. This study was supported in part by Grants-in-Aid from the Ministry of Education, Culture, Sports, Science, and Technology of Japan to S. Horai.

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Authors and Affiliations

  1. Department of Biosystems Science, Graduate University for Advanced Studies (Sokendai), 240-0193, Hayama, Kanagawa, Japan

    Atsushi Tajima & Satoshi Horai

  2. Taidon Hospital, Taidon, Taiwan

    Cheih-Shan Sun

  3. National Taiwan University, Taipei, Taiwan

    I-Hung Pan

  4. Department of Biological Sciences, Graduate School of Science, University of Tokyo, Tokyo, Japan

    Takafumi Ishida

  5. Division of Population Genetics, National Institute of Genetics, Mishima, Japan

    Naruya Saitou

Authors
  1. Atsushi Tajima
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  2. Cheih-Shan Sun
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  4. Takafumi Ishida
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  5. Naruya Saitou
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  6. Satoshi Horai
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Corresponding author

Correspondence to Satoshi Horai.

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Electronic database information: the accession numbers for the data in this article are as follows:

DDBJ/EMBL/GenBank databases, accession nos. AB093682–AB093861

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Tajima, A., Sun, CS., Pan, IH. et al. Mitochondrial DNA polymorphisms in nine aboriginal groups of Taiwan: implications for the population history of aboriginal Taiwanese. Hum Genet 113, 24–33 (2003). https://doi.org/10.1007/s00439-003-0945-1

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  • DOI: https://doi.org/10.1007/s00439-003-0945-1

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