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.
Highlights
South Asia is thought to be one of the first major geographic regions to be inhabited by anatomically modern humans (AMHs) as they dispersed out of A frica[1,2,3,4]
The maternal genetic ancestry of 659 individuals from the five Khyber Pakhtunkhwa Province (KPP) ethnic groups was characterized through coding region single nucleotide polymorphism (SNP) genotyping and control region (CR) sequencing (Tables S1 and S2)
A total of 54 different mitochondrial DNA (mtDNA) haplogroups was detected among individuals of the five ethnic groups
Summary
South Asia is thought to be one of the first major geographic regions to be inhabited by anatomically modern humans (AMHs) as they dispersed out of A frica[1,2,3,4]. Archeological and anthropological evidence suggests the initial settlement of the region by AMH populations occurred 60–70 thousand years ago (kya)[3,4,5,6,7,8,9,10,11,12,13], presumably via a coastal route[1,9,14,15,16] From this region, modern humans likely dispersed into East Asia, Southeast Asia, and Sahul[2,4,17]. As a result of these processes, the majority of present-day Pakistani and Northwest Indian populations have relatively close affinities with West Eurasian populations[7,8,17,19,62,63,64,65,66,67,68,69,70,71]
Sign-in/Register to view highlights & summary 
Published Version (
Free)
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
