Abstract

We have analyzed Y-chromosomal variation in populations from Transoxiana, a historical region covering the southwestern part of Central Asia. We studied 780 samples from 10 regional populations of Kazakhs, Uzbeks, Turkmens, Dungans, and Karakalpaks using 35 SNP and 17 STR markers. Analysis of haplogroup frequencies using multidimensional scaling and principal component plots, supported by an analysis of molecular variance, showed that the geographic landscape of Transoxiana, despite its distinctiveness and diversity (deserts, fertile river basins, foothills and plains) had no strong influence on the genetic landscape. The main factor structuring the gene pool was the mode of subsistence: settled agriculture or nomadic pastoralism. Investigation of STR-based clusters of haplotypes and their ages revealed that cultural and demic expansions of Transoxiana were not closely connected with each other. The Arab cultural expansion introduced Islam to the region but did not leave a significant mark on the pool of paternal lineages. The Mongol expansion, in contrast, had enormous demic success, but did not impact cultural elements like language and religion. The genealogy of Muslim missionaries within the settled agricultural communities of Transoxiana was based on spiritual succession passed from teacher to disciple. However, among Transoxianan nomads, spiritual and biological succession became merged.

Highlights

  • Transoxiana is a historical region of Central Asia (Fig. 1)

  • In the 4th century BC Alexander the Great turned it into a Hellenistic province, naming it Transoxiana (“area beyond the Ox river”; Ox is the ancient name for Amu Darya)

  • This study aims to examine the genetic landscape of Transoxiana and explore its connection to geographical and cultural landscapes

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Summary

Introduction

Transoxiana is a historical region of Central Asia (Fig. 1). It covers the territories of five modern countries: Uzbekistan, western Tajikistan, western Kyrgyzstan, northwestern Turkmenistan and southern Kazakhstan. The source of migration returned to Western Asia in the 8th century AD: due to the expansion of Islam, the region fell under the influence of the Arab culture and became known as Mawarannahr. In the 13th century AD the migration vector switched again to a Central Asian source: most of the region was under Mongol cultural influences, becoming the Chagatai Khanate - part of the Mongol Empire[4,5,6]. Besides these major cultural influences, minor ones such as a small settlement of Han Chinese mentioned by the Buddhist monk Xuanzang in 630 BC took place[4]. A number of studies have exemplified influences of religious[7, 8] or linguistic shifts[9,10,11] on genetic structure

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