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Investigating Taiwanese genomic diversity

Genetic analysis of Indigenous Taiwanese peoples sheds light on Austronesian expansion

Scientists from the Institut Pasteur in France and the Max Planck Institute for Evolutionary Anthropology in Germany have collected and analyzed genome-wide data from 55 individuals from seven Taiwanese Austronesian groups and two Han-Taiwanese groups to investigate Taiwanese genomic diversity and make inferences about the Austronesian expansion.

Illustrated map of the sampled Taiwanese groups. Taiwan is depicted from top and horizontal views, surrounded by ocean, with sampling locations indicated by dots and linked to illustrations of people from these groups. © Original painting by Gou-Sing Kao Liu, modified by Dang Liu.

The Austronesian language family is one of the largest in the world, comprising over 1,200 languages spoken from Madagascar to Hawaii. Linguistic, archaeological, and genetic data all point to a Taiwanese origin of Austronesian-speaking peoples. However, while there are over 20 different Indigenous groups in Taiwan, divided into “Highland” and “Lowland” peoples, genome-wide data are available from only a few of these. How the genetic structure of Taiwanese groups might impact current theories as to how people entered and left Taiwan ("Into-Taiwan" and "Out-of-Taiwan") has not been investigated until now.

Scientists from the Institut Pasteur and the Max Planck Institute for Evolutionary Anthropology have collected and analyzed genome-wide data from 55 individuals from seven Taiwanese Austronesian groups (including the first Lowland group to be analyzed) and two Han-Taiwanese groups. “The Lowland Makatao exhibited Han-related admixture dated within the past 100 years, in line with historical evidence for extensive contacts between Han and Lowland peoples”, says co-first author Dang Liu, a researcher at Institut Pasteur. “Additionally, the results indicated considerable genetic structure between northern and southern Highland groups. The northern Highland Atayal showed the most distinctive genetic profile, suggestive of considerable isolation from other groups in the last 3,000 years.”

Including published ancient genomes in the analyses, little divergence was inferred between the Into- and Out-of-Taiwan groups, with the latter and present-day highland groups showing additional interactions from northern East Asia. “This suggests that soon after the ‘Into-Taiwan’ event, the Austronesian ancestors rapidly moved to the south and expanded out of Taiwan, and there were additional interactions with northern East Asians", says co-first author Albert Min-Shan Ko, a researcher at Chang Gung University.

Austronesian people from outside Taiwan are most closely related to southern Highland peoples in Taiwan, although exactly which Indigenous group is the parent of the Austronesian diaspora is still up for debate. Haplotype-based results suggest the Amis as the source population, which accords with a recent linguistic analysis. However, a different approach, based on allele frequency differences, show that the Rukai share more ancestry with groups that left Taiwan than the Amis; the difference between these two approaches might be the result of recent back-migration and contact with the Amis. “Overall, the results of this study illustrate the important impact of Taiwanese genomic diversity on inferences about the Austronesian expansion”, concludes last author Mark Stoneking, a researcher affiliated with the Max Planck Institute for Evolutionary Anthropology.

Original publication

Dang Liu, Albert Min-Shan Ko & Mark Stoneking
The genomic diversity of Taiwanese Austronesian groups: implications for the ‘Into and Out of Taiwan’ models
PNAS Nexus, 16 May 2023, DOI: https://doi.org/10.1093/pnasnexus/pgad122


Dr. Dang Liu
Institut Pasteur, Paris
dang.liu@[>>> Please remove the text! <<<]pasteur.fr

Prof. Dr. Mark Stoneking
Max Planck Institute for Evolutionary Anthropology, Leipzig
stonekg@[>>> Please remove the text! <<<]eva.mpg.de

Sandra Jacob
Press officer
Max Planck Institute for Evolutionary Anthropology, Leipzig
jacob@[>>> Please remove the text! <<<]eva.mpg.de