The genetic legacy of the Mongols

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: approximately 8% of the men in this region carry it, and it thus makes up approximately 0.5% of the world total. The pattern of variation within the lineage suggested that it originated in Mongolia approximately 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.

Figure 1

Median-joining network (Bandelt et al. 1999) representing Y-chromosomal variation within haplogroup C*(xC3c). Chromosomes were typed with a minimum of 16 binary markers (Qamar et al. ; Zerjal et al. ; our unpublished observations), including RPS4Y and M48, to define the lineage C*(xC3c) (Y-Chromosome-Consortium 2002), also known as haplogroup 10, derived for RPS4Y and ancestral for M48. Sixteen Y microsatellites were also typed, but DYS19 was excluded from the network analysis because it is duplicated in haplogroup C. The central star-cluster profile is 10-16-25-10-11-13-14-12-11-11-11-12-8-10-10, for the loci DYS389I-DYS389b-DYS390-DYS391-DYS392-DYS393-DYS388-DYS425-DYS426-DYS434-DYS435-DYS436-DYS437-DYS438-DYS439. Circles represent lineages, area is proportional to frequency, and color indicates population of origin. Lines represent microsatellite mutational differences.

Figure 2

Geographical distribution of star-cluster chromosomes. Populations are shown as circles with an area proportional to sample size; star-cluster chromosomes are indicated by green sectors. The shaded area represents the extent of Genghis Khan's empire at the time of his death (Morgan 1986).