The Eurasian heartland: a continental perspective on Y-chromosome diversity

Abstract

The nonrecombining portion of the human Y chromosome has proven to be a valuable tool for the study of population history. The maintenance of extended haplotypes characteristic of particular geographic regions, despite extensive admixture, allows complex demographic events to be deconstructed. In this study we report the frequencies of 23 Y-chromosome biallelic polymorphism haplotypes in 1,935 men from 49 Eurasian populations, with a particular focus on Central Asia. These haplotypes reveal traces of historical migrations, and provide an insight into the earliest patterns of settlement of anatomically modern humans on the Eurasian continent. Central Asia is revealed to be an important reservoir of genetic diversity, and the source of at least three major waves of migration leading into Europe, the Americas, and India. The genetic results are interpreted in the context of Eurasian linguistic patterns.

Figure 1

Geographic distribution of Y-chromosome haplotypes in selected Eurasian populations. Evolutionarily related haplotypes were combined to clarify their display. Colors are those shown in Table 1.

Figure 2

Neighbor-joining tree of 61 Eurasian populations, based on Y-chromosome biallelic haplotype frequencies. Nei genetic distances were used in a neighbor-joining analysis. Internal numbers are bootstrap values (1000 replicates); values less than 200 are not shown. Roman numerals denote population clusters described in the text. Data for the following populations were taken from the literature: Basque, Cambodian/Laotian, Chinese, Hunza, Japanese, Middle Eastern, and Taiwanese from ref. ; Czech/Slovak, Greek, Macedonian, Turkish, and Ukrainian from ref. . Uzbek* and Tatar* include all Uzbek and Tatar populations shown in Table 1.