Genetic evidence for the proto-Austronesian homeland in Asia: mtDNA and nuclear DNA variation in Taiwanese aboriginal tribes

Am J Hum Genet. 1998 Dec;63(6):1807-23. doi: 10.1086/302131.


Previous studies of mtDNA variation in indigenous Taiwanese populations have suggested that they held an ancestral position in the spread of mtDNAs throughout Southeast Asia and Oceania (Melton et al. 1995; Sykes et al. 1995), but the question of an absolute proto-Austronesian homeland remains. To search for Asian roots for indigenous Taiwanese populations, 28 mtDNAs representative of variation in four tribal groups (Ami, Atayal, Bunun, and Paiwan) were sequenced and were compared with each other and with mtDNAs from 25 other populations from Asia and Oceania. In addition, eight polymorphic Alu insertion loci were analyzed, to determine if the pattern of mtDNA variation is concordant with nuclear DNA variation. Tribal groups shared considerable mtDNA sequence identity (P>.90), where gene flow is believed to have been low, arguing for a common source or sources for the tribes. mtDNAs with a 9-bp deletion have considerable mainland-Asian diversity and have spread to Southeast Asia and Oceania through a Taiwanese bottleneck. Only four Taiwanese mtDNA haplotypes without the 9-bp deletion were shared with any other populations, but these shared types were widely dispersed geographically throughout mainland Asia. Phylogenetic and principal-component analyses of Alu loci were concordant with conclusions from the mtDNA analyses; overall, the results suggest that the Taiwanese have temporally deep roots, probably in central or south China, and have been isolated from other Asian populations in recent history.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Alu Elements / genetics
  • Asia
  • Asian Continental Ancestry Group / genetics*
  • Cell Nucleus / genetics
  • DNA / genetics*
  • DNA, Mitochondrial / genetics*
  • Europe
  • Gene Frequency
  • Genetic Variation*
  • Heteroduplex Analysis
  • Heterozygote
  • Humans
  • Locus Control Region / genetics
  • Oceanic Ancestry Group / genetics*
  • Pacific Islands
  • Phylogeny
  • Polymorphism, Genetic / genetics
  • Sequence Analysis, DNA
  • Sequence Deletion / genetics
  • Taiwan
  • Y Chromosome / genetics*


  • DNA, Mitochondrial
  • DNA