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Reconstructing the demographic history of the Himalayan and adjoining populations

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Abstract

The rugged topography of the Himalayan region has hindered large-scale human migrations, population admixture and assimilation. Such complexity in geographical structure might have facilitated the existence of several small isolated communities in this region. We have genotyped about 850,000 autosomal markers among 35 individuals belonging to the four major populations inhabiting the Himalaya and adjoining regions. In addition, we have genotyped 794 individuals belonging to 16 ethnic groups from the same region, for uniparental (mitochondrial and Y chromosomal DNA) markers. Our results in the light of various statistical analyses suggest a closer link of the Himalayan and adjoining populations to East Asia than their immediate geographical neighbours in South Asia. Allele frequency-based analyses likely support the existence of a specific ancestry component in the Himalayan and adjoining populations. The admixture time estimate suggests a recent westward migration of populations living to the East of the Himalaya. Furthermore, the uniparental marker analysis among the Himalayan and adjoining populations reveal the presence of East, Southeast and South Asian genetic signatures. Interestingly, we observed an antagonistic association of Y chromosomal haplogroups O3 and D clines with the longitudinal distance. Thus, we summarise that studying the Himalayan and adjoining populations is essential for a comprehensive reconstruction of the human evolutionary and ethnolinguistic history of eastern Eurasia.

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Acknowledgements

During the revision of this manuscript, we have lost our senior collegue and mentor Dr. Lalji Singh, we dedicate this article to him to show our respect for his dedication to Science. We thank all the volunteers for their kind participation in this study. All the individuals assisting the sample collection are highly appreciated for their timely help and cooperation. RT was supported by CSIR_SRF and European Social Funds Doctoral Studies and Internationalisation Programme DoRa. GC is supported by Estonian team grant (PRG-213), RV was supported by Estonian Institutional Research Grants IUT24-1, KT was supported by the Council of Scientific and Industrial Research (CSIR), Government of India, LS was supported by DST, Government of India and CBM was supported by Marie Sklodowska- Curie Actions individual fellowship (Grant-70429). We acknowledge the late R Rajkumar for his contribution in sequencing some Y chromosome and mtDNA markers among the studied populations.

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Correspondence to Gyaneshwer Chaubey or Kumarasamy Thangaraj.

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Deceased: Lalji Singh.

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Tamang, R., Chaubey, G., Nandan, A. et al. Reconstructing the demographic history of the Himalayan and adjoining populations. Hum Genet 137, 129–139 (2018). https://doi.org/10.1007/s00439-018-1867-2

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