Abstract

Knowledge of high resolution Y-chromosome haplogroup diversification within Iran provides important geographic context regarding the spread and compartmentalization of male lineages in the Middle East and southwestern Asia. At present, the Iranian population is characterized by an extraordinary mix of different ethnic groups speaking a variety of Indo-Iranian, Semitic and Turkic languages. Despite these features, only few studies have investigated the multiethnic components of the Iranian gene pool. In this survey 938 Iranian male DNAs belonging to 15 ethnic groups from 14 Iranian provinces were analyzed for 84 Y-chromosome biallelic markers and 10 STRs. The results show an autochthonous but non-homogeneous ancient background mainly composed by J2a sub-clades with different external contributions. The phylogeography of the main haplogroups allowed identifying post-glacial and Neolithic expansions toward western Eurasia but also recent movements towards the Iranian region from western Eurasia (R1b-L23), Central Asia (Q-M25), Asia Minor (J2a-M92) and southern Mesopotamia (J1-Page08). In spite of the presence of important geographic barriers (Zagros and Alborz mountain ranges, and the Dasht-e Kavir and Dash-e Lut deserts) which may have limited gene flow, AMOVA analysis revealed that language, in addition to geography, has played an important role in shaping the nowadays Iranian gene pool. Overall, this study provides a portrait of the Y-chromosomal variation in Iran, useful for depicting a more comprehensive history of the peoples of this area as well as for reconstructing ancient migration routes. In addition, our results evidence the important role of the Iranian plateau as source and recipient of gene flow between culturally and genetically distinct populations.

Highlights

  • The Middle Eastern region had a central role in human evolution

  • They belong to 15 main haplogroups (B, C, D, E, F, G, H, I, J, L, N, O, Q, R and T) the most frequent of which are J (31.4%), R (29.1%), G (11.8%) and E (9.2%), with great differences in frequencies and sub-haplogroups observed among provinces and ethnic groups (Figure 1)

  • In order to visualize the relationships among Iranian groups and their neighbouring populations, the Y-chromosome haplogroups were defined at high resolution in 938 Iranian samples from Iranian provinces and belonging to different ethnic groups

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Summary

Introduction

The Middle Eastern region had a central role in human evolution It has been a passageway for Homo sapiens between Africa and the rest of Asia and, in particular, the first region of the Asian continent occupied by modern humans [1]–[3]. In the 6th century BC Cyrus the Great founded the Achaemenid Empire (the first Persian Empire), which started in South Iran and spread from Libya to Anatolia and Macedonia, encompassing an extraordinary ethno-cultural diversity [6]. This widespread empire collapsed after two centuries (towards the end of the 4th century BC) on account of Alexander the Great. The Muslim conquest of Persia in 637 AC led to the introduction of Islam, with the consequent decline of the Zoroastrian religion [7], which still survives in some communities in different part of Iran, especially in Tehran and Yazd

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