Unravelling the distinct strains of Tharu ancestry

Abstract

Unravelling the distinct strains of Tharu ancestry Gyaneshwer Chaubey*,1, Manvendra Singh2, Federica Crivellaro3,4, Rakesh Tamang5,6,17, Amrita Nandan2, Kamayani Singh2, Varun Kumar Sharma2, Ajai Kumar Pathak1,5, Anish M Shah2, Vishwas Sharma2, Vipin Kumar Singh2, Deepa Selvi Rani2, Niraj Rai2, Alena Kushniarevich1, Anne-Mai Ilumäe1,5, Monika Karmin1,5, Anand Phillip2, Abhilasha Verma2, Erik Prank1,5, Vijay Kumar Singh2, Blaise Li7, Periyasamy Govindaraj8, Akhilesh Kumar Chaubey9, Pavan Kumar Dubey10, Alla G Reddy2, Kumpati Premkumar8, Satti Vishnupriya6, Veena Pande11, Jüri Parik1,5, Siiri Rootsi1, Phillip Endicott12, Mait Metspalu1,5, Marta Mirazon Lahr3, George van Driem13, Richard Villems1,5,14, Toomas Kivisild1,15, Lalji Singh2,10,16 and Kumarasamy Thangaraj*,2 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. European Journal of Human Genetics (2014) 22, 1404–1412; doi:10.1038/ejhg.2014.36; published online 26 March 2014