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Am J Hum Genet. 2003 March; 72(3): 717–721.
Published online 2003 January 17.
PMCID: PMC1180246
The Genetic Legacy of the Mongols
Tatiana Zerjal,1 Yali Xue,1,2 Giorgio Bertorelle,3 R. Spencer Wells,4 Weidong Bao,1,5 Suling Zhu,1,5 Raheel Qamar,1,6 Qasim Ayub,1,6 Aisha Mohyuddin,1,6 Songbin Fu,2 Pu Li,2 Nadira Yuldasheva,4,7 Ruslan Ruzibakiev,7 Jiujin Xu,5 Qunfang Shu,5 Ruofu Du,5 Huanming Yang,5 Matthew E. Hurles,8 Elizabeth Robinson,1,* Tudevdagva Gerelsaikhan,1, Bumbein Dashnyam,9 S. Qasim Mehdi,5 and Chris Tyler-Smith1
1Department of Biochemistry, University of Oxford, Oxford; 2Department of Medical Biology, Harbin Medical University, Harbin, China; 3Dipartimento di Biologia, Universitá di Ferrara, Ferrara, Italy; 4Wellcome Trust Centre for Human Genetics, University of Oxford, Headington, United Kingdom; 5Institute of Genetics, Chinese Academy of Sciences, Beijing; 6Biomedical and Genetic Engineering Labs, Islamabad; 7Institute of Immunology, Academy of Sciences, Tashkent, Uzbekistan; 8McDonald Institute, University of Cambridge, Cambridge, United Kingdom; and 9Institute of Biotechnology, Mongolian Academy of Sciences, Ulaanbaatar, Mongolia
Address for correspondence and reprints: Dr. Chris Tyler-Smith, Department of Biochemistry, University of Oxford, South Parks Road, Oxford OX1 3QU, UK. E-mail: chris/at/bioch.ox.ac.uk
*Present affiliation: Combinatorx, Boston
Present affiliation: National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda.
Received September 27, 2002; Accepted November 25, 2002.
Abstract
We have identified a Y-chromosomal lineage with several unusual features. It was found in 16 populations throughout a large region of Asia, stretching from the Pacific to the Caspian Sea, and was present at high frequency: ~8% of the men in this region carry it, and it thus makes up ~0.5% of the world total. The pattern of variation within the lineage suggested that it originated in Mongolia ~1,000 years ago. Such a rapid spread cannot have occurred by chance; it must have been a result of selection. The lineage is carried by likely male-line descendants of Genghis Khan, and we therefore propose that it has spread by a novel form of social selection resulting from their behavior.