title: Unravelling the distinct strains of Tharu ancestry.
abstract: The northern region of the Indian subcontinent is a vast landscape interlaced by diverse ecologies, for example, the Gangetic Plain and the Himalayas. A great number of ethnic groups are found there, displaying a multitude of languages and cultures. The Tharu is one of the largest and most linguistically diverse of such groups, scattered across the Tarai region of Nepal and bordering Indian states. Their origins are uncertain. Hypotheses have been advanced postulating shared ancestry with Austroasiatic, or Tibeto-Burman-speaking populations as well as aboriginal roots in the Tarai. Several Tharu groups speak a variety of Indo-Aryan languages, but have traditionally been described by ethnographers as representing East Asian phenotype. Their ancestry and intra-population diversity has previously been tested only for haploid (mitochondrial DNA and Y-chromosome) markers in a small portion of the population. This study presents the first systematic genetic survey of the Tharu from both Nepal and two Indian states of Uttarakhand and Uttar Pradesh, using genome-wide SNPs and haploid markers. We show that the Tharu have dual genetic ancestry as up to one-half of their gene pool is of East Asian origin. Within the South Asian proportion of the Tharu genetic ancestry, we see vestiges of their common origin in the north of the South Asian Subcontinent manifested by mitochondrial DNA haplogroup M43.
authors.affiliation: Evolutionary Biology Group, Estonian Biocentre, Tartu, Estonia.
authors.forename: Gyaneshwer
authors.initials: G
authors.lastname: Chaubey
authors.affiliation: CSIR-Centre for Cellular and Molecular Biology, Hyderabad, India.
authors.forename: Manvendra
authors.initials: M
authors.lastname: Singh
authors.affiliation: 1] Leverhulme Centre for Human Evolutionary Studies, University of Cambridge, Cambridge, UK [2] National Museum of Prehistory and Ethnography 'L. Pigorini', Rome, Italy.
authors.forename: Federica
authors.initials: F
authors.lastname: Crivellaro
authors.affiliation: 1] Department of Evolutionary Biology, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia [2] Department of Genetics, Osmania University, Hyderabad, India.
authors.forename: Rakesh
authors.initials: R
authors.lastname: Tamang
authors.affiliation: CSIR-Centre for Cellular and Molecular Biology, Hyderabad, India.
authors.forename: Amrita
authors.initials: A
authors.lastname: Nandan
authors.affiliation: CSIR-Centre for Cellular and Molecular Biology, Hyderabad, India.
authors.forename: Kamayani
authors.initials: K
authors.lastname: Singh
authors.affiliation: CSIR-Centre for Cellular and Molecular Biology, Hyderabad, India.
authors.forename: Varun Kumar
authors.initials: VK
authors.lastname: Sharma
authors.affiliation: 1] Evolutionary Biology Group, Estonian Biocentre, Tartu, Estonia [2] Department of Evolutionary Biology, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia.
authors.forename: Ajai Kumar
authors.initials: AK
authors.lastname: Pathak
authors.affiliation: CSIR-Centre for Cellular and Molecular Biology, Hyderabad, India.
authors.forename: Anish M
authors.initials: AM
authors.lastname: Shah
authors.affiliation: CSIR-Centre for Cellular and Molecular Biology, Hyderabad, India.
authors.forename: Vishwas
authors.initials: V
authors.lastname: Sharma
authors.affiliation: CSIR-Centre for Cellular and Molecular Biology, Hyderabad, India.
authors.forename: Vipin Kumar
authors.initials: VK
authors.lastname: Singh
authors.affiliation: CSIR-Centre for Cellular and Molecular Biology, Hyderabad, India.
authors.forename: Deepa
authors.initials: D
authors.lastname: Selvi Rani
authors.affiliation: CSIR-Centre for Cellular and Molecular Biology, Hyderabad, India.
authors.forename: Niraj
authors.initials: N
authors.lastname: Rai
authors.affiliation: Evolutionary Biology Group, Estonian Biocentre, Tartu, Estonia.
authors.forename: Alena
authors.initials: A
authors.lastname: Kushniarevich
authors.affiliation: 1] Evolutionary Biology Group, Estonian Biocentre, Tartu, Estonia [2] Department of Evolutionary Biology, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia.
authors.forename: Anne-Mai
authors.initials: AM
authors.lastname: Ilumäe
authors.affiliation: 1] Evolutionary Biology Group, Estonian Biocentre, Tartu, Estonia [2] Department of Evolutionary Biology, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia.
authors.forename: Monika
authors.initials: M
authors.lastname: Karmin
authors.affiliation: CSIR-Centre for Cellular and Molecular Biology, Hyderabad, India.
authors.forename: Anand
authors.initials: A
authors.lastname: Phillip
authors.affiliation: CSIR-Centre for Cellular and Molecular Biology, Hyderabad, India.
authors.forename: Abhilasha
authors.initials: A
authors.lastname: Verma
authors.affiliation: 1] Evolutionary Biology Group, Estonian Biocentre, Tartu, Estonia [2] Department of Evolutionary Biology, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia.
authors.forename: Erik
authors.initials: E
authors.lastname: Prank
authors.affiliation: CSIR-Centre for Cellular and Molecular Biology, Hyderabad, India.
authors.forename: Vijay Kumar
authors.initials: VK
authors.lastname: Singh
authors.affiliation: Dipartimento di Fisica, Politecnico di Torino, Torino, Italy.
authors.forename: Blaise
authors.initials: B
authors.lastname: Li
authors.affiliation: Department of Biomedical Science, School of Basic Medical Sciences, Bharathidasan University, Tiruchirappalli, India.
authors.forename: Periyasamy
authors.initials: P
authors.lastname: Govindaraj
authors.affiliation: Krishi Vigyan Kendra, JNKVV, Sidhi, India.
authors.forename: Akhilesh Kumar
authors.initials: AK
authors.lastname: Chaubey
authors.affiliation: Banaras Hindu University, Varanasi, India.
authors.forename: Pavan Kumar
authors.initials: PK
authors.lastname: Dubey
authors.affiliation: CSIR-Centre for Cellular and Molecular Biology, Hyderabad, India.
authors.forename: Alla G
authors.initials: AG
authors.lastname: Reddy
authors.affiliation: Department of Biomedical Science, School of Basic Medical Sciences, Bharathidasan University, Tiruchirappalli, India.
authors.forename: Kumpati
authors.initials: K
authors.lastname: Premkumar
authors.affiliation: Department of Genetics, Osmania University, Hyderabad, India.
authors.forename: Satti
authors.initials: S
authors.lastname: Vishnupriya
authors.affiliation: Kumaun University, Nainital, India.
authors.forename: Veena
authors.initials: V
authors.lastname: Pande
authors.affiliation: 1] Evolutionary Biology Group, Estonian Biocentre, Tartu, Estonia [2] Department of Evolutionary Biology, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia.
authors.forename: Jüri
authors.initials: J
authors.lastname: Parik
authors.affiliation: Evolutionary Biology Group, Estonian Biocentre, Tartu, Estonia.
authors.forename: Siiri
authors.initials: S
authors.lastname: Rootsi
authors.affiliation: Musée de l'Homme, Paris, France.
authors.forename: Phillip
authors.initials: P
authors.lastname: Endicott
authors.affiliation: 1] Evolutionary Biology Group, Estonian Biocentre, Tartu, Estonia [2] Department of Evolutionary Biology, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia.
authors.forename: Mait
authors.initials: M
authors.lastname: Metspalu
authors.affiliation: Leverhulme Centre for Human Evolutionary Studies, University of Cambridge, Cambridge, UK.
authors.forename: Marta Mirazon
authors.initials: MM
authors.lastname: Lahr
authors.affiliation: Himalayan Languages Project, Institut für Sprachwissenschaft, Universität Bern, Bern 9, Switzerland.
authors.forename: George
authors.initials: G
authors.lastname: van Driem
authors.affiliation: 1] Evolutionary Biology Group, Estonian Biocentre, Tartu, Estonia [2] Department of Evolutionary Biology, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia [3] Estonian Academy of Sciences, Tallinn, Estonia.
authors.forename: Richard
authors.initials: R
authors.lastname: Villems
authors.affiliation: 1] Evolutionary Biology Group, Estonian Biocentre, Tartu, Estonia [2] Department of Biological Anthropology, University of Cambridge, Cambridge, UK.
authors.forename: Toomas
authors.initials: T
authors.lastname: Kivisild
authors.affiliation: 1] CSIR-Centre for Cellular and Molecular Biology, Hyderabad, India [2] Banaras Hindu University, Varanasi, India [3] Genome Foundation, Hyderabad, India.
authors.forename: Lalji
authors.initials: L
authors.lastname: Singh
authors.affiliation: CSIR-Centre for Cellular and Molecular Biology, Hyderabad, India.
authors.forename: Kumarasamy
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mesh_terms: D044466:Asian People / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics; D005006:Ethnicity / Q000235:genetics*; D056726:Genetic Association Studies; D014644:Genetic Variation; D060005:Genotyping Techniques; D006239:Haplotypes; D006801:Humans; D007194:India; D009390:Nepal; D058974:Phylogeography; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA
chemical_list: D004272:DNA, Mitochondrial