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. 2022 Jan 19;12(1):1027.
doi: 10.1038/s41598-022-05076-3.

Contrasting maternal and paternal genetic histories among five ethnic groups from Khyber Pakhtunkhwa, Pakistan

Muhammad Tariq  1   2   3 , Habib Ahmad  4 , Brian E Hemphill  5 , Umar Farooq  6 , Theodore G Schurr  7
Affiliations

Contrasting maternal and paternal genetic histories among five ethnic groups from Khyber Pakhtunkhwa, Pakistan

Muhammad Tariq et al. Sci Rep. .

Abstract

Northwest Pakistan has served as a point of entry to South Asia for different populations since ancient times. However, relatively little is known about the population genetic history of the people residing within this region. To better understand human dispersal in the region within the broader history of the subcontinent, we analyzed mtDNA diversity in 659 and Y-chromosome diversity in 678 individuals, respectively, from five ethnic groups (Gujars, Jadoons, Syeds, Tanolis and Yousafzais), from Swabi and Buner Districts, Khyber Pakhtunkhwa Province, Pakistan. The mtDNAs of all individuals were subject to control region sequencing and SNP genotyping, while Y-chromosomes were analyzed using 54 SNPs and 19 STR loci. The majority of the mtDNAs belonged to West Eurasian haplogroups, with the rest belonging to either South or East Asian lineages. Four of the five Pakistani populations (Gujars, Jadoons, Syeds, Yousafzais) possessed strong maternal genetic affinities with other Pakistani and Central Asian populations, whereas one (Tanolis) did not. Four haplogroups (R1a, R1b, O3, L) among the 11 Y-chromosome lineages observed among these five ethnic groups contributed substantially to their paternal genetic makeup. Gujars, Syeds and Yousafzais showed strong paternal genetic affinities with other Pakistani and Central Asian populations, whereas Jadoons and Tanolis had close affinities with Turkmen populations from Central Asia and ethnic groups from northeast India. We evaluate these genetic data in the context of historical and archeological evidence to test different hypotheses concerning their origins and biological relationships.

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Conflict of interest statement

The authors declare no competing interests.

Figures

Figure 1
Figure 1
Geospatial map of mtDNA haplogroup frequencies in KPP ethnic groups and comparative populations. See the Methods section for a description of the mapping process, and Table S3 for the data on which the projection is based. With respect to the abbreviations in the different panels in the figure, “MEA” indicates mtDNAs belonging to East Asian haplogroups deriving from macrohaplogroup M (C, D, G, M7-M9, Z), while “MSA” denotes those belonging to South Asian haplogroups derived from M (M2-M10, M12, M18, etc.). Similarly, “RSA” indicates mtDNAs derived from R haplogroups arising in South Asia (e.g., R2, R5, R6, R7, R9, R30, R31), “UWE” denotes mtDNAs from U haplogroups common to West Eurasian populations (U2e, U3-U5, U7, U8), and “USA” mtDNAs from U haplogroups identified in South Asian populations (U*, U1, U2a-c).
Figure 2
Figure 2
A Neighbor-Joining tree showing the genetic relationships between KPP ethnic groups and 77 world populations based on FST estimates from mtDNA HVS1 sequence data (Table S4).
Figure 3
Figure 3
A geospatial map of NRY haplogroup frequencies in KPP ethnic groups and comparative populations. See the Methods section for a description of the mapping process, and Table S6 for the data on which the projection is based.
Figure 4
Figure 4
A Neighbor-Joining tree showing the genetic relationships between KPP ethnic groups and 82 world populations based on RST estimates from Y-STR haplotype data (Table S8).
Figure 5
Figure 5
A map of Pakistan showing the locations of fieldwork in the Khyber Pakhtunkhwa Province. DNA samples were collected from areas in which each ethnic group was highly concentrated. Gujars, Syeds and Yousafzais were sampled from both Buner and Swabi Districts, while the Jadoons and Tanolis were only sampled in the Swabi District. The map was created with the ArcGIS software, v10.3.1., based on source map from ESRI https://www.esri.com/en-us/home.
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