HVSI polymorphism indicates multiple origins of mtDNA in the Hazarewal population of Northern Pakistan

Abstract

ABSTRACT. Mitochondrial DNA (mtDNA) is an important tool used to explore ethnogenetics and the evolutionary history of human populations. In this study, hypervariable segment I (HVSI) from mtDNA was analyzed to establish the genetic lineage of the Hazarewal populations residing in the Mansehra and Abbottabad districts of Northern Pakistan. HVSI was extracted from genetic specimens obtained from 225 unrelated male and female individuals belonging to seven distinct Pakistani ethnic groups (31 Abbassis, 44 Awans, 38 Gujars, 16 Jadoons, 23 Karlals, 33 Syeds, and 40 Tanolis). Eighty-three haplogroups, 39 of which were unique, were identified; haplogroup H was predominantly represented (in 40% of the people), followed by haplogroups M (21.78%), R (16.89%), N (15.56%), L (3.11%), and HV (2.67%). The results revealed a sex-biased genetic contribution from putative West Eurasian, South Asian, and Sub-Saharan populations to the genetic lineage of Hazarewal ancestry, with the effect of Eurasians being predominant. The HVSI nucleotide sequences exhibited some characteristic deletion mutations between 16,022 and 16,193 bp, which is characteristic of specific ethnic groups. HVSI sequence homology showed that Hazarewal populations fall into three major clusters: Syeds and Awans sorted out into cluster I; Tanolis, Gujars, and Karlals segregated in cluster II; and Abbassis and Jadoons in cluster III. Here, we have reported the firsthand genetic information and evolutionary sketch of the selected populations residing alongside the historical Silk Route, which provides a baseline for collating the origin, route of migration, and phylogenetics of the population.

Is Malaysia’s banded langur, Presbytis femoralis femoralis, actually Presbytis neglectus neglectus? Taxonomic revision with new insights on the radiation history of the Presbytis species group in Southeast Asia

“…Thus, we intend to investigate the molecular systematics, population genetics, and biogeographic history of P. f. femoralis using the HVSI gene of mtDNA sequences to definitively solve the mystery. The properties of mtDNA, including their lack of recombination, fast evolutionary rate, maternal inheritance, higher copy number per cell, and higher population-specific polymorphisms, makes them distinct from nuclear DNAs and valuable genetic markers in population genetics study, especially primates (Smith et al 2007;Fang et al 2015;Akbar et al 2016). The HVSI region of mtDNA is primarily chosen because of datasets availability by Meyer et al (2011) for comparative analysis purposes and also this region has proven to be highly informative (Endicott and Ho 2008) and one of the three most variable regions in the D-loop of mtDNA (Malyarchuk et al 2002).…”