Lin Marie, Trejaut Jean A
Molecular Anthropology and Transfusion Medicine Research Laboratory, Mackay Memorial Hospital, Taipei, Taiwan.
Hum Genome Var. 2023 Jan 18;10(1):2. doi: 10.1038/s41439-022-00228-3.
Many studies have described the diversity of Austronesian-speaking Taiwanese people to shed more light on their origin and their connection with the "Out of Taiwan" migrations. However, the genetic relationship between the non-Austronesian-speaking groups of Taiwan and the populations of continental Asia is still unclear. Here, we studied the diversity of mtDNA in 767 non-Austronesian speakers from 16 locations in Taiwan using partial sequencing obtained from the hypervariable segment I (HVS-I) and coding regions 8,001-9,000 and 9.801-10,900 and 85 complete mtDNA genome sequences. Bayesian analysis of population structure was used to examine their relationship with over 3662 individuals representing indigenous groups of Taiwan, continental East Asia, Japan, and Island Southeast Asia. The whole analysis identified 278 haplotypes. Complete genomes revealed 62 novel subhaplogroups, of which 31 were exclusive to Taiwan. Estimates of coalescence times of all subhaplogroups showed peaks of diversification greater than 5.0 kya, likely characterizing gene flow from continental East Asian groups but not excluding in situ Taiwanese ancestry. Furthermore, a significant number of clades exclusive to non-Austronesian speakers of Taiwan (NAN_Tw) showed coalescence peaks between 1.0 and 2.6 kya, suggesting possible late Neolithic to early metal age settlements of NAN_Tw and local expansion in Taiwan.
许多研究描述了说南岛语的台湾人的多样性，以更深入了解他们的起源以及与“走出台湾”移民的联系。然而，台湾非南岛语族群与亚洲大陆人群之间的遗传关系仍不明确。在此，我们使用从高变区I（HVS-I）以及编码区8001-9000、9801-10900获得的部分测序结果，对来自台湾16个地点的767名非南岛语使用者的线粒体DNA（mtDNA）多样性进行了研究，并测定了85个完整的mtDNA基因组序列。利用群体结构的贝叶斯分析来检验他们与代表台湾原住民群体、东亚大陆、日本和东南亚岛屿的3662多名个体之间的关系。整个分析共鉴定出278个单倍型。完整基因组揭示了62个新的亚单倍群，其中31个是台湾特有的。所有亚单倍群的溯祖时间估计显示出大于5.0千年前（kya） 的多样化高峰，这可能表征了来自东亚大陆群体的基因流动，但不排除台湾本地的祖先起源。此外，大量台湾非南岛语使用者（NAN_Tw）特有的进化枝显示出在1.0至2.6 kya之间的溯祖高峰，这表明NAN_Tw可能在新石器时代晚期至金属时代早期在台湾定居并在当地扩张。
