Abstract
This article reports on the genetic characteristics of the Ami and Yami, two aboriginal populations of Taiwan. Y-SNP and mtDNA markers as well as autosomal SNPs were utilized to investigate the phylogenetic relationships to groups from MSEA (mainland Southeast Asia), ISEA (island Southeast Asia), and Oceania. Both the Ami and Yami have limited genetic diversity, with the Yami having even less diversity than the Ami. The partitioning of populations within the PCA plots based on autosomal SNPs, the profile constitution observed in the structure analyses demonstrating similar composition among specific populations, the average IBD (identical by descent) tract length gradients, the average total length of genome share among the populations, and the outgroup f3 results all indicate genetic affinities among populations that trace a geographical arc from Taiwan south into the Philippine Archipelago, Borneo, Indonesia, and Melanesia. Conversely, a more distant kinship between the Ami/Yami and MSEA based on all the markers examined, the total mtDNA sequences as well as the admixture f3 and f4 analyses argue against strong genetic contribution from MSEA to the Austronesian dispersal. The sharing of long IBD tracts, total genome length, and the large number of segments in common between the Ami/Yami and the Society Archipelago populations East Polynesia standout considering they are located about 10,700 km apart.
This is a preview of subscription content, access via your institution
Access options
Subscribe to this journal
Receive 12 print issues and online access
$259.00 per year
only $21.58 per issue
Buy this article
- Purchase on SpringerLink
- Instant access to the full article PDF.
USD 39.95
Prices may be subject to local taxes which are calculated during checkout


Similar content being viewed by others
References
Timothy AJ, Maude EP, Aghakhanian F, Majumder PP, Datar F. Discerning the origins of the Negritos, first Sundaland people: deep divergence and archaic admixture. Genome Biol Evol. 2017;9:2013–22.
Zhaomei L. On the occurrence of Homo sapiens in Taiwan. Bull Dep Archaeol Anthropol. 1981;42:53–74.
Olsen JW, Miller-Antonio S. The Palaeolithic in Southern China. Asian Perspect. 1992;31:129–60.
Jiao T. The Neolithic of Southeast China: cultural transformation and regional interaction on the coast. New York: Cambria Press; 2007.
Goddard WG. Formosa: a study in Chinese history. New York: Macmillan and Company Limited; 1966.
Hung H, Carson MT. Foragers, fishers and farmers: origins of the Taiwanese Neolithic. Antiquity. 2014;88:1115–31.
Bellwood P. Taiwan and the prehistory of the Austronesian-speaking people. In: Da-Wei K. editor. The review of archaeology. ANU Research Publications; 1997. p. 39–48.
Deng Z, Hsiao-chun H, Xuechun F, Yunming H, Houyuan LU. The ancient dispersal of millets in southern China: new archaeological evidence. Holocene. 2018;28:34–43.
Gray RD, Drummond AJ, Greenhill SJ. Language phylogenies reveal expansion pulses and pauses in Pacific settlement. Science. 2009;323:479–83.
Sagart L. The expansion of Setaria farmers in East Asia: a linguistic and archaeological model. Past human migrations in East Asia: matching archaeology, linguistics and genetics. New York: Goddard WG; 2008.
Zeng Z, Rowold DJ, Garcia-Bertrand R, Calderon S, Regueiro M, Li L. et al. Taiwanese aborigines: genetic heterogeneity and paternal contribution to Oceania. Gene. 2014;542:240–7.
Blust RA. The Austronesian languages. Canberra, Australia: Asia-Pacific Linguistics; 2013.
Ross M. In defense of nuclear Austronesian (and against Tsouic). Lang Linguist. 2012;13:1253–330.
Ho D. Taiwan Nandaoyu de yuyan guanxi [Genetic relationships among the Formosan languages]. Chin Stud. 1998;16.2:141
Sagart L. The higher phylogeny of Austronesian and the position of TaiKadai. Ocean Linguist. 2004;43.2:411–44.
Li L, Xuc Y, Luis JR, Alfonso-Sanchez MA, Zengf Z, Garcia-Bertrand R, et al. Cebú, Thailand and Taiwanese aboriginal populations according to Y-STR loci. Gene X. 2019;1:100001.
Zeng Z, Garcia-Bertrand R, Calderon S, Lin L, Zhong M, Herrera RJ. Extreme genetic heterogeneity among the nine major tribal Taiwanese island populations detected with a new generation Y23 STR system. Forensic Sci Int Genet. 2014;12:100–6.
Melton T, Clifford S, Jeremy Martinson J, Batzer M, Stoneking M. Genetic evidence for the proto-Austronesian homeland in Asia: mtDNA and nuclear DNA variation in Taiwanese aboriginal tribes. Am J Hum Genet. 1998;63:1807–23.
Trejaut JA, Poloni ES, Yen J-C, Lai Y-H, Loo J-H, Lee C-L, et al. Taiwan Y chromosomal DNA variation and its relationship with Island Southeast Asia. BMC Genet. 2014;15:77.
Tabbada KA, Trejaut J, Loo J-H, Chen Y-M, Lin M, Marta Mirazon-Lahr M. et al. Philippine mitochondrial DNA diversity: a populated viaduct between Taiwan and Indonesia?. Mol Biol. 2010;27:21–31.
Loo JH, Trejaut JA, Yen J-C, Chen Z-S, Lee C-L, Lin M, et al. Genetic affinities between the Yami tribe people of Orchid Island and the Philippine islanders of the Batanes archipelago. BMC Genet. 2011;12:21.
Delfin F, Salvador JM, Calacal GC, Perdigon HB, Tabbada KA, Villamor LP. et al. The Y-chromosome landscape of the Philippines: extensive heterogeneity and varying genetic affinities of Negrito and non-Negrito groups. Eur J Hum Genet. 2011;19:224–30.
Tumonggor MK, Karafet TM, Hallmark B, Lansing JS, Sudoyo H, Hammer MF. et al. The Indonesian archipelago: an ancient genetic highway linking Asia and the Pacific. J Hum Genet. 2013;58:165–73.
Karafet TM, Hallmark B, Cox MP, Sudoyo H, Downey S, Lansing JS. et al. Major east-west division underlies Y chromosome stratification across Indonesia. Mol Biol Evol. 2010;27:1833–44.
Bing S, Li J, Peter Underhill P, et al. Paternal genetic affinity between western Austronesians and Daic populations. BMC Evol Biol. 2000;8:146.
Li H, Wen B, Chen SJ, Su B, Pramoonjago P, Liu Y, et al. Paternal genetic affinity between Western Austronesians and Daic populations. BMC Evol Biol. 2008;8:146.
Lum KJ, Cann RL. mtDNA lineage analyses: origins and migrations of Micronesians and Polynesians. Am J Phys Anthropol. 2000;113:151–68.
Richards M, Oppenheimer S, Sykes B. mtDNA suggests Polynesian origins in Eastern Indonesia. Am J Hum Genet. 1998;63:1234–6.
Moreno-Mayer V, Rasmussen S, Seguin-Orlando A, Rasmussen M, Liang M, Tennebø S, et al. Genome-wide ancestry patterns in Rapanui suggest pre-European admixture with Native Americans. Curr Biol. 2014;24:1–8.
Delfin F, Min-Shan KoA, Li M, Gunnarsdottir ED, Tabbada KA, Salvador JM, et al. Complete MtDNA genomes of Filipino ethnolinguistic groups: a melting pot of recent and ancient lineages in the Asia-pacific region. Eur J Hum Genet. 2014;22:228–37.
Pawley A, Ross M. Austronesian historical linguistics and culture history. Annu Rev Anthropol. 1993;22:425–59.
Rieth TM, Athens JS. Late Holocene human expansion into near and remote Oceania: a Bayesian model of the chronologies of the Mariana Islands and Bismarck Archipelago. J Island Coast Archaeol. 2019;14:5–16.
Xu S, Pugachb I, Stoneking M, Kayserc M, Jina L, The HUGO Pan-Asian SNP Consortium. Genetic dating indicates that the Asian–Papuan admixture through Eastern Indonesia corresponds to the Austronesian expansion. Proc Natl Acad Sci USA. 2012;109:4574–9.
Kayser M. The human genetic history of oceania: near and remote views of dispersal. Curr Biol. 2010;20:194–201.
Burley D, Burley D, Weisler MI, Zhao J-X. High precision U/Th dating of 640 first Polynesian settlement. PLoS ONE. 2012;7:e48769.
Hammarström H, Forkel R, Haspelmath M. Central Pacific. Glottolog 3.0. Jena, Germany: Max Planck Institute for the Science of Human History; 2017.
Vinton KP. The Lapita Peoples. Hoboken, NJ: Wiley; 1997.
Wilmshurst JM, Hunt TL, Carl P. High-precision radio-carbon dating shows recent and rapid initial human colonization of East Polynesia. Proc Natl Acad Sci USA. 2015;108:1815–20.
Stevenson J. Polynesian colonization and landscape changes on Mo’orea, French Polynesia: The Lake Temae pollen record. Holocene. 2017;27:1963–75.
Hunt TL, Lipo CP. Late colonization of Easter Island. Science. 2006;649:1603–6.
Su B, Jin L, Underhill P, Martinson J, Saha N, McGarvey ST, et al. Polynesian origins: insights from the Y chromosome. Proc Natl Acad Sci USA. 2000;97:8225–8.
Friedlaender JS, Friedlaender FR, Reed FA, Kidd KK, Kidd JR, Chambers GK, et al. The genetic structure of Pacific islanders. PLoS Genet. 2008;4:e19.
Cai X, Qin Z, Wen B, Xu S, Wang Y, Lu Y, et al. Human migration through bottlenecks from Southeast Asia into East Asia during Last Glacial Maximum revealed by Y chromosomes. PLoS ONE. 2011;6:e24282.
Kim SH, Kim KC, Shin DJ, Jin HJ, Kwak KD, Han MS, et al. High frequencies of Y-chromosome haplogroup O2b-SRY465 lineages in Korea: a genetic perspective on the peopling of Korea. Investig Genet. 2011;2:10.
Abbott WG, Winship IM, Gane EJ, Finau SA, Munn SR, Tukuitonga CE, et al. Genetic diversity and linkage disequilibrium in the Polynesian population of Niue Island. Hum Biol. 2006;78:131145.
Mirabal S, Cadenas AM, Garcia-Bertrand R, Herrera RJ. Ascertaining the role of Taiwan as a source for the Austronesian expansion. Am J Phys Anthropol. 2013;150:551–64.
Yan WY, Yin YH. The development history of Chinese agriculture. China: Tianjing Science and Technology Publisher; 1993.
Zong Y, When Z, Innes JB, Chen C, Wang Z, Wang H. Fire and flood management of coastal swamp enabled first rice paddy cultivation in east China. Nature. 2007;449:459–62.
Bellwood P. The checkered prehistory of rice movement southwards as a domesticated cereal-from the Yangzi to the equator. Rice. 2011;50:93–103.
Tsang CH. Recent discoveries at the Tapenkeng culture sites in Taiwan: implications for the problem of Austronesian origins. In: Blench R, Sagart L, Sanchez-Mazas A, editors. The Peopling of East Asia: putting together Archaeology, Linguistics and Genetics. London: Routledge/Curzon; 2005.
Ko AM-S, Chen C-Y, Fu Q, Delfin F, Li M, Chiu H-L. et al. Early Austronesians: into and out of Taiwan. Am J Hum Genet. 2014;94:426–36.
Kusuma Pradiptajati, Brucato N, Cox MP, Pierron D, Razafindrazaka H, Alexander A, et al. Contrasting linguistic and genetic origins of the Asian source populations of Malagasy. Sci Rep. 2016;6:1–9.
Brandão A, Eng KK, Rito T, Cavadas B, Bulbeck D, Gandin F. et al. Quantifying the legacy of the Chinese Neolithic on the maternal genetic heritage of Taiwan and Island Southeast Asia. Hum Genet. 2016;135:363–76.
Arenas M, Gorostiza A, Baquero JM, Campoy E, Branco C, Rangel-Villalobos H, et al. The Early Peopling of the Philippines based on mtDNA. Sci Rep. 2020;17:4901.
Szabo K. In: Chiu S, Sand C, editors. From Southeast Asia to the Pacific: archaeological perspectives on the Austronesian Expansion and the Lapita Cultural Complex. Taipei: Center for Archaeological Studies, Academia Sinica; 2007.
Skoglund P, Posth C, Sirak K, Spriggs M, Valentin F, Bedford S. et al. Genomic insights into the peopling of the Southwest Pacific. Nature. 2016;538:510–3.
Acknowledgements
We would like to thank Professor Hsue-yin Hsu, Department of Life Science, Tzu-Chi University, Hualien, Taiwan, who assisted us in procuring the samples for this study. We gratefully acknowledge the participation of the people of the Ami and Yami communities of Taiwan in this study. This work was supported by the Estonian Research Council grant PUT (PRG243) to MM and HP; Institutional Research Funding IUT (IUT 24-1) of the Estonian Ministry of Education and Research to EM, MR, and ET; European Union through the European Regional Development Fund (Project No. 2014-2020.4.01.16-0030) to MM; European Union through the European Regional Development Fund (Project No. 2014-2020.4.01.16-0125) to MM and MR; European Union through Horizon 2020 grant no. 810645 to MM; European Regional Development Fund project: Centre of Excellence for Genomics and Translational Medicine Project No. 2014–2020.4.01.15-0012 and Estonian Institutional Research grant IUT 24-1 to KT.
Author information
Authors and Affiliations
Contributions
RJH conceived and directed the project. The following authors contributed to field work: EJM, RG-B, and RJH. Experiments were performed by HP, LP-M, MR, AR, ET, EJM, and RJH. Data analyses were performed by KT, EM, HP, LP-M, JR-L, MM-D-P, and RJH. Manuscript was written and edited by RJH, RG-B, LP-M, HP, EM, MM, and KT. Figures were prepared by RJH, JR-L, KT, EM, HP, and LP-M. All authors reviewed the manuscript.
Corresponding author
Ethics declarations
Conflict of interest
The authors declare no competing interests.
Additional information
Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Supplementary information
Rights and permissions
About this article
Cite this article
Tätte, K., Metspalu, E., Post, H. et al. The Ami and Yami aborigines of Taiwan and their genetic relationship to East Asian and Pacific populations. Eur J Hum Genet 29, 1092–1102 (2021). https://doi.org/10.1038/s41431-021-00837-6
Received:
Revised:
Accepted:
Published:
Version of record:
Issue date:
DOI: https://doi.org/10.1038/s41431-021-00837-6


