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Objectives: The aim of this research was to explore the origin, diversification, and demographic history of O1a‐M119 over the past 10,000 years, as well as its role during the formation of East Asian and Southeast Asian populations, particularly the Han, Tai‐Kadai‐speaking, and Austronesian‐speaking populations. Materials and Methods: Y‐chromosome sequences (n = 141) of the O1a‐M119 lineage, including 17 newly generated in this study, were used to reconstruct a revised phylogenetic tree with age estimates, and identify sub‐lineages. The geographic distribution of 12 O1a‐M119 sub‐lineages was summarized, based on 7325 O1a‐M119 individuals identified among 60,009 Chinese males. Results: A revised phylogenetic tree, age estimation, and distribution maps indicated continuous expansion of haplogroup O1a‐M119 over the past 10,000 years, and differences in demographic history across geographic regions. We propose several sub‐lineages of O1a‐M119 as founding paternal lineages of Han, Tai‐Kadai‐speaking, and Austronesian‐speaking populations. The sharing of several young O1a‐M119 sub‐lineages with expansion times less than 6000 years between these three population groups supports a partial common ancestry for them in the Neolithic Age; however, the paternal genetic divergence pattern is much more complex than previous hypotheses based on ethnology, archeology, and linguistics. Discussion Our analyses contribute to a better understanding of the demographic history of O1a‐M119 sub‐lineages over the past 10,000 years during the emergence of Han, Austronesians, Tai‐Kadai‐speaking populations. The data described in this study will assist in understanding of the history of Han, Tai‐Kadai‐speaking, and Austronesian‐speaking populations from ethnology, archeology, and linguistic perspectives in the future. [ABSTRACT FROM AUTHOR]

Background: Previous studies have suggested that the human Y-chromosome haplogroup Q1a1a-M120, a widespread paternal lineage in East Asian populations, originated in South Siberia. However, much uncertainty remains regarding the origin, diversification, and expansion of this paternal lineage. Aim: To explore the origin and diffusion of paternal Q-M120 lineages in East Asia. Subjects and methods: The authors generated 26 new Y chromosome sequences of Q-M120 males and co-analysed 45 Y chromosome sequences of this haplogroup. A highly-revised phylogenetic tree of haplogroup Q-M120 with age estimates was reconstructed. Additionally, a comprehensive phylogeographic analysis of this lineage was performed including 15,007 samples from 440 populations in eastern Eurasia. Results: An ancient connection of this lineage with populations in Siberia was revealed. However, this paternal lineage experienced an in-situ expansion between 5000 and 3000 years ago in northwestern China. Ancient populations with high frequencies of Q-M120 were involved in the formation of ancient Huaxia populations before 2000 years ago; this haplogroup eventually became one of the founding paternal lineages of modern Han populations. Conclusion: This study provides a clear pattern of the origin and diffusion process of haplogroup Q1a1a-M120, as well as the role of this paternal lineage during the formation of ancient Huaxia populations and modern Han populations. [ABSTRACT FROM AUTHOR]