Abstract
Austronesian diffusion is considered one of the greatest dispersals in human history; it led to the peopling of an extremely vast region, ranging from Madagascar in the Indian Ocean to Easter Island in Remote Oceania. The Y-chromosome haplogroup O3a2b*-P164(xM134), a predominant paternal lineage of Austronesian populations, is found at high frequencies in Polynesian populations. However, the internal phylogeny of this haplogroup remains poorly investigated. In this study, we analyzed -seventeen Y-chromosome sequences of haplogroup O3a2b*-P164(xM134) and generated a revised phylogenetic tree of this lineage based on 310 non-private Y-chromosome polymorphisms. We discovered that all available O3a2b*-P164(xM134) samples belong to the newly defined haplogroup O3a2b2-N6 and samples from Austronesian populations belong to the sublineage O3a2b2a2-F706. Additionally, we genotyped a series of Y-chromosome polymorphisms in a large collection of samples from China. We confirmed that the sublineage O3a2b2a2b-B451 is unique to Austronesian populations. We found that O3a2b2-N6 samples are widely distributed on the eastern coastal regions of Asia, from Korea to Vietnam. Furthermore, we propose- that the O3a2b2a2b-B451 lineage represents a genetic connection between ancestors of Austronesian populations and ancient populations in North China, where foxtail millet was domesticated about 11,000 years ago. The large number of newly defined Y-chromosome polymorphisms and the revised phylogenetic tree of O3a2b2-N6 will be helpful to explore the origin of proto-Austronesians and the early diffusion process of Austronesian populations.
Highlights
The origin and differentiation of Austronesian populations and their languages has long fascinated linguists, archaeologists, and geneticists
We provided a revised phylogenetic tree of haplogroup O3a2b2-N6 with a large number of newly defined subclades and newly discovered polymorphisms
Additional genotyping and sequencing results will help clarify the demographic history of Austronesian populations, especially those from the Remote Oceania region
Summary
The origin and differentiation of Austronesian populations and their languages has long fascinated linguists, archaeologists, and geneticists. It is generally accepted that Austronesian populations and their languages originated in Taiwan, where the highest diversity in language in the Austronesian language family is observed [1, 2]. The “express train” model of the Austronesian expansion [3], known as the “Out-of-Taiwan” model, postulates that the earliest archaeological culture in Taiwan, the Dabenkeng culture (about 3000 BC to 2500 BC), was created by ancestors of Austronesian populations. The most advanced research from a linguistic perspective[8], genome-wide data[9, 10], and ancient DNA[11] tends to support the “express train” model-
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