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      The genetic demographic history of the last hunter-gatherer population of the Himalayas

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          Abstract

          Nepal, largely covered by the Himalayan mountains, hosts indigenous populations with distinct linguistic, cultural, and genetic characteristics. Among these populations, the Raute, Nepal’s last nomadic hunter-gatherers, offer a unique insight into the genetic and demographic history of Himalayan foragers. Despite strong cultural connections to other regional foragers, the genetic history of this population remains understudied. This study presents newly genotyped genome-wide SNP data of the Raute to explore their genetic isolation, their origins and potential as an older foraging lineage, and their genetic connections to other regional foragers. Our results show that high levels of inbreeding in the Raute indicate recent genetic isolation. Effective population size estimates suggest a dramatic population decline around 50 generations ago. Strong genetic similarity to Nepalese populations of various subsistence styles highlights a dynamic history of genetic interactions prior to isolation, with particular closeness to historical foragers like the Kusunda and Tharu, but excludes an ancient foraging lineage origin. The study underscores the complexity of human population dynamics in the Himalayas, suggesting a history of extensive interaction between foragers and farmers, followed by isolation and demographic decline among the Raute.

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          The online version contains supplementary material available at 10.1038/s41598-024-80156-0.

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          Linkage disequilibrium--understanding the evolutionary past and mapping the medical future.

          Linkage disequilibrium--the nonrandom association of alleles at different loci--is a sensitive indicator of the population genetic forces that structure a genome. Because of the explosive growth of methods for assessing genetic variation at a fine scale, evolutionary biologists and human geneticists are increasingly exploiting linkage disequilibrium in order to understand past evolutionary and demographic events, to map genes that are associated with quantitative characters and inherited diseases, and to understand the joint evolution of linked sets of genes. This article introduces linkage disequilibrium, reviews the population genetic processes that affect it and describes some of its uses. At present, linkage disequilibrium is used much more extensively in the study of humans than in non-humans, but that is changing as technological advances make extensive genomic studies feasible in other species.
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            Runs of homozygosity in European populations.

            Estimating individual genome-wide autozygosity is important both in the identification of recessive disease variants via homozygosity mapping and in the investigation of the effects of genome-wide homozygosity on traits of biomedical importance. Approaches have tended to involve either single-point estimates or rather complex multipoint methods of inferring individual autozygosity, all on the basis of limited marker data. Now, with the availability of high-density genome scans, a multipoint, observational method of estimating individual autozygosity is possible. Using data from a 300,000 SNP panel in 2618 individuals from two isolated and two more-cosmopolitan populations of European origin, we explore the potential of estimating individual autozygosity from data on runs of homozygosity (ROHs). Termed F(roh), this is defined as the proportion of the autosomal genome in runs of homozygosity above a specified length. Mean F(roh) distinguishes clearly between subpopulations classified in terms of grandparental endogamy and population size. With the use of good pedigree data for one of the populations (Orkney), F(roh) was found to correlate strongly with the inbreeding coefficient estimated from pedigrees (r = 0.86). Using pedigrees to identify individuals with no shared maternal and paternal ancestors in five, and probably at least ten, generations, we show that ROHs measuring up to 4 Mb are common in demonstrably outbred individuals. Given the stochastic variation in ROH number, length, and location and the fact that ROHs are important whether ancient or recent in origin, approaches such as this will provide a more useful description of genomic autozygosity than has hitherto been possible.
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              Reconstructing Indian Population History

              India has been underrepresented in genome-wide surveys of human variation. We analyze 25 diverse groups to provide strong evidence for two ancient populations, genetically divergent, that are ancestral to most Indians today. One, the “Ancestral North Indians” (ANI), is genetically close to Middle Easterners, Central Asians, and Europeans, while the other, the “Ancestral South Indians” (ASI), is as distinct from ANI and East Asians as they are from each other. By introducing methods that can estimate ancestry without accurate ancestral populations, we show that ANI ancestry ranges from 39-71% in India, and is higher in traditionally upper caste and Indo-European speakers. Groups with only ASI ancestry may no longer exist in mainland India. However, the Andamanese are an ASI-related group without ANI ancestry, showing that the peopling of the islands must have occurred before ANI-ASI gene flow on the mainland. Allele frequency differences between groups in India are larger than in Europe, reflecting strong founder effects whose signatures have been maintained for thousands of years due to endogamy. We therefore predict that there will be an excess of recessive diseases in India, different in each group, which should be possible to screen and map genetically.
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                Author and article information

                Contributors
                inezelisabeth.derkx@iea.uzh.ch
                jaume.bertranpetit@upf.edu
                Journal
                Sci Rep
                Sci Rep
                Scientific Reports
                Nature Publishing Group UK (London )
                2045-2322
                9 January 2025
                9 January 2025
                2025
                : 15
                : 1505
                Affiliations
                [1 ]Department of Evolutionary Anthropology, University of Zurich, ( https://ror.org/02crff812) Zurich, Switzerland
                [2 ]Department of Archaeology and Museology, Masaryk University, ( https://ror.org/02j46qs45) Brno, Czech Republic
                [3 ]Center of Molecular Medicine, Central European Institute of Technology, Masaryk University, ( https://ror.org/009nz6031) Brno, Czech Republic
                [4 ]Department of Medicine and Life Sciences, Institut de Biologia Evolutiva (CSIC-UPF), Universitat Pompeu Fabra, ( https://ror.org/04n0g0b29) Barcelona, Spain
                [5 ]Tribhuvan University, ( https://ror.org/02rg1r889) Kathmandu, Nepal
                [6 ]Research Institute for Bioscience and Biotechnology (RIBB), ( https://ror.org/045hp3b72) Lalitpur, Nepal
                [7 ]Committee to study the social, cultural, economic and geographical and habitat of Raute community, Surkhet, Nepal
                Article
                80156
                10.1038/s41598-024-80156-0
                11718311
                39789000
                fb65c1b4-2c59-4359-8ae6-0bb95309ac87
                © The Author(s) 2024

                Open Access This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License, which permits any non-commercial use, sharing, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if you modified the licensed material. You do not have permission under this licence to share adapted material derived from this article or parts of it. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by-nc-nd/4.0/.

                History
                : 3 September 2024
                : 15 November 2024
                Funding
                Funded by: A.H. Schultz Foundation
                Funded by: FundRef http://dx.doi.org/10.13039/100005966, Leakey Foundation;
                Funded by: Graduate Campus, University of Zurich, Switzerland
                Funded by: MICIU/AEI/10.13039/501100011033
                Award ID: PID2023-147621NB-I00
                Funded by: ERDF A way of making Europe
                Funded by: SERI-funded ERC Consolidator Grant
                Award ID: MB22.00059
                Categories
                Article
                Custom metadata
                © Springer Nature Limited 2025

                Uncategorized
                population genetics,raute,nepal,runs of homozygosity,hunter-gatherers,anthropology,evolutionary genetics

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