Ethnogenetic analysis reveals the Bronze Age genetic affiliation of Yashkuns with West Eurasians

Abstract Focusing on the Yashkun population of Gilgit-Baltistan, an administrative territory in northern Pakistan, our study investigated mtDNA haplotypes as indicators of ancient gene flow and genetic diversity. Genomic DNA was extracted and evaluated for quality using agarose gel electrophoresis....

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Main Authors: Muhammad Umer Khan, Tazeen Zahid, Muhammad Farooq Sabar, Tayyaba Masood, Qurban Ali, Shiming Han, Ajaz Ahmad
Format: Article
Language:English
Published: Nature Portfolio 2024-12-01
Series:Scientific Reports
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Online Access:https://doi.org/10.1038/s41598-024-83136-6
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author Muhammad Umer Khan
Tazeen Zahid
Muhammad Farooq Sabar
Tayyaba Masood
Qurban Ali
Shiming Han
Ajaz Ahmad
author_facet Muhammad Umer Khan
Tazeen Zahid
Muhammad Farooq Sabar
Tayyaba Masood
Qurban Ali
Shiming Han
Ajaz Ahmad
author_sort Muhammad Umer Khan
collection DOAJ
description Abstract Focusing on the Yashkun population of Gilgit-Baltistan, an administrative territory in northern Pakistan, our study investigated mtDNA haplotypes as indicators of ancient gene flow and genetic diversity. Genomic DNA was extracted and evaluated for quality using agarose gel electrophoresis. The complete control region of mtDNA (nt 16024–576) was amplified via PCR, and sequencing was performed using the Big Dye Terminator Kit on an Applied Biosystems Genetic Analyzer. Sequence alignment and analysis were conducted using Geneious software and the Cambridge Reference Sequence (CRS). Haplotypes were classified into phylogenetic haplogroups with HaploGrep 2 and the Mito Tool platform, referencing PhyloTree version 17. The study identified considerable genetic diversity within the Yashkun population, with major macro-haplogroups H (29.47%), T (13.68%), and M (13.68%) representing West Eurasian, South Asian, and East & Southeast Asian lineages. The highest genetic affiliation was with West Eurasian haplogroups (73.68%), indicating significant gene flow from the West. The population’s genetic distinctiveness was highlighted by the calculation of forensic genetic characteristics, such as power of discrimination (PD = 0.9975), genetic diversity (GD = 0.9865), and random match probability (RMP = 0.01349). The knowledge of the genetic makeup of the Yashkun population was further improved by the inference of phylogenetic links made possible by comparisons with other indigenous groups in Pakistan. These results attest to the reliability of mtDNA data for forensic applications such as ancestry tracking, individual identification, and additions to national forensic databases. The inclusion of mtDNA analysis in forensic science is strongly supported by this groundbreaking study on the Yashkun community, especially in areas like Pakistan with diverse genetic histories.
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spelling doaj-art-4715f5e60e0441c79d3a99c4c75d5ccd2024-12-29T12:30:35ZengNature PortfolioScientific Reports2045-23222024-12-0114111310.1038/s41598-024-83136-6Ethnogenetic analysis reveals the Bronze Age genetic affiliation of Yashkuns with West EurasiansMuhammad Umer Khan0Tazeen Zahid1Muhammad Farooq Sabar2Tayyaba Masood3Qurban Ali4Shiming Han5Ajaz Ahmad6Institute of Molecular Biology and Biotechnology, The University of LahoreInstitute of Molecular Biology and Biotechnology, The University of LahoreCentre for Applied Molecular Biology, University of the PunjabInstitute of Molecular Biology and Biotechnology, The University of LahoreDepartment of Plant Breeding and Genetics, Faculty of Agricultural Sciences, University of the PunjabSchool of Biological Sciences and Technology, Liupanshui Normal UniversityDepartment of Clinical Pharmacy, College of Pharmacy, King Saud UniversityAbstract Focusing on the Yashkun population of Gilgit-Baltistan, an administrative territory in northern Pakistan, our study investigated mtDNA haplotypes as indicators of ancient gene flow and genetic diversity. Genomic DNA was extracted and evaluated for quality using agarose gel electrophoresis. The complete control region of mtDNA (nt 16024–576) was amplified via PCR, and sequencing was performed using the Big Dye Terminator Kit on an Applied Biosystems Genetic Analyzer. Sequence alignment and analysis were conducted using Geneious software and the Cambridge Reference Sequence (CRS). Haplotypes were classified into phylogenetic haplogroups with HaploGrep 2 and the Mito Tool platform, referencing PhyloTree version 17. The study identified considerable genetic diversity within the Yashkun population, with major macro-haplogroups H (29.47%), T (13.68%), and M (13.68%) representing West Eurasian, South Asian, and East & Southeast Asian lineages. The highest genetic affiliation was with West Eurasian haplogroups (73.68%), indicating significant gene flow from the West. The population’s genetic distinctiveness was highlighted by the calculation of forensic genetic characteristics, such as power of discrimination (PD = 0.9975), genetic diversity (GD = 0.9865), and random match probability (RMP = 0.01349). The knowledge of the genetic makeup of the Yashkun population was further improved by the inference of phylogenetic links made possible by comparisons with other indigenous groups in Pakistan. These results attest to the reliability of mtDNA data for forensic applications such as ancestry tracking, individual identification, and additions to national forensic databases. The inclusion of mtDNA analysis in forensic science is strongly supported by this groundbreaking study on the Yashkun community, especially in areas like Pakistan with diverse genetic histories.https://doi.org/10.1038/s41598-024-83136-6Mitochondrial DNA (mtDNA)Yashkun populationControl regionHaplotypesGenetic diversityHaplogroups
spellingShingle Muhammad Umer Khan
Tazeen Zahid
Muhammad Farooq Sabar
Tayyaba Masood
Qurban Ali
Shiming Han
Ajaz Ahmad
Ethnogenetic analysis reveals the Bronze Age genetic affiliation of Yashkuns with West Eurasians
Scientific Reports
Mitochondrial DNA (mtDNA)
Yashkun population
Control region
Haplotypes
Genetic diversity
Haplogroups
title Ethnogenetic analysis reveals the Bronze Age genetic affiliation of Yashkuns with West Eurasians
title_full Ethnogenetic analysis reveals the Bronze Age genetic affiliation of Yashkuns with West Eurasians
title_fullStr Ethnogenetic analysis reveals the Bronze Age genetic affiliation of Yashkuns with West Eurasians
title_full_unstemmed Ethnogenetic analysis reveals the Bronze Age genetic affiliation of Yashkuns with West Eurasians
title_short Ethnogenetic analysis reveals the Bronze Age genetic affiliation of Yashkuns with West Eurasians
title_sort ethnogenetic analysis reveals the bronze age genetic affiliation of yashkuns with west eurasians
topic Mitochondrial DNA (mtDNA)
Yashkun population
Control region
Haplotypes
Genetic diversity
Haplogroups
url https://doi.org/10.1038/s41598-024-83136-6
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