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

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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.

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Acknowledgements

We gratefully acknowledge the contribution of all individuals who participated as voluntary sample donors and the administrative staff of Peshawar and Nowshera districts and headmasters in facilitating sample collection. We also acknowledge the Higher Education Commission of Pakistan for financial support of this work under the HEC NRPU Project No. 20-1409 titled “Ethnogenetic elaboration of KP through dental morphology and DNA analysis.

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MZ, BH and HA designed and conceived the experiment. MZ and MT performed the data analysis. MZ, HA, BH, TS and MT draft the manuscript. BH, TS, MI and HA reviewed the manuscript. All authors read and approved the final manuscript.

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Correspondence to Habib Ahmad.

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The study has been approved by the institutional bioethical committee of Hazara University Mansehra. Informed consent was signed from all the participants before sample collection.

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Zubair, M., Hemphill, B.E., Schurr, T.G. et al. Mitochondrial DNA diversity in the Khattak and Kheshgi of the Peshawar Valley, Pakistan. Genetica 148, 195–206 (2020). https://doi.org/10.1007/s10709-020-00095-2

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