Research article

Y chromosome evidence of earliest modern human settlement in East Asia and multiple origins of Tibetan and Japanese populations

Hong Shi¹ , Hua Zhong² , Yi Peng¹ , Yong-Li Dong³ , Xue-Bin Qi¹ , Feng Zhang⁴ , Lu-Fang Liu⁵ , Si-Jie Tan³ , Runlin Z Ma² , Chun-Jie Xiao³ , R Spencer Wells⁶ , Li Jin⁴ and Bing Su¹

¹State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology and Kunming Primate Research Centre, Chinese Academy of Sciences, Kunming, PR China

²Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing, PR China

³Human Genetics Centre, Yunnan University, Kunming, PR China

⁴State Key Laboratory of Genetic Engineering and Center for Anthropological Studies, School of Life Sciences, Fudan University, Shanghai, PR China

⁵Huaihua Medical College, Huaihua, Hunan, PR China

⁶The Genographic Project, National Geographic Society, Washington, USA

author email corresponding author email

BMC Biology 2008, 6:45doi:10.1186/1741-7007-6-45

Published:	29 October 2008

Abstract

Background

The phylogeography of the Y chromosome in Asia previously suggested that modern humans of African origin initially settled in mainland southern East Asia, and about 25,000–30,000 years ago, migrated northward, spreading throughout East Asia. However, the fragmented distribution of one East Asian specific Y chromosome lineage (D-M174), which is found at high frequencies only in Tibet, Japan and the Andaman Islands, is inconsistent with this scenario.

Results

In this study, we collected more than 5,000 male samples from 73 East Asian populations and reconstructed the phylogeography of the D-M174 lineage. Our results suggest that D-M174 represents an extremely ancient lineage of modern humans in East Asia, and a deep divergence was observed between northern and southern populations.

Conclusion

We proposed that D-M174 has a southern origin and its northward expansion occurred about 60,000 years ago, predating the northward migration of other major East Asian lineages. The Neolithic expansion of Han culture and the last glacial maximum are likely the key factors leading to the current relic distribution of D-M174 in East Asia. The Tibetan and Japanese populations are the admixture of two ancient populations represented by two major East Asian specific Y chromosome lineages, the O and D haplogroups.