Mitochondrial DNA diversity in the Khattak and Kheshgi of the Peshawar Valley, Pakistan

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ORIGINAL PAPER

Mitochondrial DNA diversity in the Khattak and Kheshgi of the Peshawar Valley, Pakistan Muhammad Zubair1,2 · Brian E. Hemphill3 · Theodore G. Schurr4 · Muhammad Tariq5 · Muhammad Ilyas5 · Habib Ahmad2,5 Received: 15 March 2020 / Accepted: 12 May 2020 © Springer Nature Switzerland AG 2020

Abstract The strategic location of Pakistan and its presence at the crossroads of Asia has resulted in it playing a central role in both prehistoric and historic human migratory events, thereby linking and facilitating contacts between the inhabitants of the Middle East, Central Asia, China and South Asia. Despite the importance of this region and its inhabitants for our understanding of modern human origins and population dispersals, the nature of mitochondrial DNA (mtDNA) variation among members of the myriad populations of this area has largely been unexplored. Here, we report mtDNA control region sequences in 58 individuals from the Khattak and the Kheshgi, two major Pakhtun tribes residing within the Peshawar Valley of northwestern Pakistan. The results reveal that these ethnic groups are genetically heterogeneous, having 55.7% West Eurasian, 33.9% South Asian and 10.2% East Asian haplogroups. The genetic diversity observed for the Kheshgi was somewhat higher than that of the Khattak. A multidimensional scaling plot based on haplogroup frequencies for the Khattak, Kheshgi and neighboring populations indicates that the Khattak have close affinities with Baluch, Uzbek and Kazak populations but are only distantly related to the Kheshgi and other Pakistani populations. By contrast, the Kheshgi cluster closely with other Pakhtun or Pathan populations of Pakistan, suggesting a possible common maternal gene pool shared amongst them. These mtDNA data allow us to begin reconstructing the origins of the Khattak and Kheshgi and describe their complex interactions with populations from the surrounding regions. Keywords  Haplogroup · Pakistan · Pakhtun · Lineage · South Asia · Central Asia

Introduction

Electronic supplementary material  The online version of this article (https​://doi.org/10.1007/s1070​9-020-00095​-2) contains supplementary material, which is available to authorized users. * Habib Ahmad [email protected] 1



Department of Zoology, Hazara University Mansehra, Mansehra 21120, Pakistan

2



Department of Genetics, Hazara University Mansehra, Mansehra 21120, Pakistan

3

Department of Anthropology, University of Alaska, Fairbanks, AK 99775, USA

4

Department of Anthropology, University of Pennsylvania, Philadelphia 19104, USA

5

Centre for Omic Sciences, Islamia College Peshawar, Peshawar 25120, Pakistan



South Asia, including Pakistan, likely represents one of the main corridors for the dispersal of modern humans out of Africa into the rest of Eurasia (Sengupta et al. 2006; Armitage et al. 2011).Due to its location and natural resources, this region has also witnessed many prehistoric and historic migrations and invasions. In particular, Pakistan is situated along one of the branches of the Silk R