Original Article

Journal of Human Genetics (2016) 61, 103–108; doi:10.1038/jhg.2015.128; published online 29 October 2015

Ancient mitochondrial genome reveals trace of prehistoric migration in the east Pamir by pastoralists

Chao Ning1,2,7, Shizhu Gao3,7, Boping Deng1, Hongxiang Zheng4, Dong Wei2, Haoze Lv1,5, Hongjie Li1,2, Li Song1, Yong Wu6, Hui Zhou1,2 and Yinqiu Cui1,2

  1. 1School of Life Sciences, Jilin University, Changchun, China
  2. 2Research Center for Chinese Frontier Archaeology, Jilin University, Changchun, China
  3. 3College of Pharmacia Sciences, Jilin University, Changchun, China
  4. 4Ministry of Education Key Laboratory of Contemporary Anthropology and State Key Laboratory of Genetic Engineering, Fudan University, Shanghai, China
  5. 5School of Clinical Medicine, Jilin University, Changchun, China
  6. 6Xinjiang Cultural Relics and Archaeology Institute, Ürümchi, China

Correspondence: Professor H Zhou or Professor Y Cui, School of Life Sciences, Jilin University, 2699 Qianjing Street, Changchun 130012, Jilin, China. E-mail: zhouhui@jlu.edu.cn or cuiyq@jlu.edu.cn

7These authors contributed equally to this work.

Received 25 May 2015; Revised 17 September 2015; Accepted 26 September 2015
Advance online publication 29 October 2015

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Abstract

The complete mitochondrial genome of one 700-year-old individual found in Tashkurgan, Xinjiang was target enriched and sequenced in order to shed light on the population history of Tashkurgan and determine the phylogenetic relationship of haplogroup U5a. The ancient sample was assigned to a subclade of haplogroup U5a2a1, which is defined by two rare and stable transversions at 16114A and 13928C. Phylogenetic analysis shows a distribution pattern for U5a2a that is indicative of an origin in the Volga–Ural region and exhibits a clear eastward geographical expansion that correlates with the pastoral culture also entering the Eurasian steppe. The haplogroup U5a2a present in the ancient Tashkurgan individual reveals prehistoric migration in the East Pamir by pastoralists. This study shows that studying an ancient mitochondrial genome is a useful approach for studying the evolutionary process and population history of Eastern Pamir.