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Sex‐specific genetic diversity is shaped by cultural factors in Inner Asian human populations

Nina MarchiEco‐anthropologie et Ethnobiologie UMR 7206 CNRS, MNHN, Univ Paris Diderot, Sorbonne Paris Cité F‐75016 Paris FranceTatyana HegayUzbek Academy of Sciences Institute of Immunology Tashkent UzbekistanPhilippe MennecierEco‐anthropologie et Ethnobiologie UMR 7206 CNRS, MNHN, Univ Paris Diderot, Sorbonne Paris Cité F‐75016 Paris FranceMyriam GeorgesEco‐anthropologie et Ethnobiologie UMR 7206 CNRS, MNHN, Univ Paris Diderot, Sorbonne Paris Cité F‐75016 Paris FranceR. LaurentEco‐anthropologie et Ethnobiologie UMR 7206 CNRS, MNHN, Univ Paris Diderot, Sorbonne Paris Cité F‐75016 Paris FranceMark WhittenMPRG on Comparative Population Linguistics, Max Planck Institute for Evolutionary Anthropology Leipzig GermanyPhillip EndicottEco‐anthropologie et Ethnobiologie UMR 7206 CNRS, MNHN, Univ Paris Diderot, Sorbonne Paris Cité F‐75016 Paris FranceAlmaz AldashevInstitute molecular biology and medicine Bishkek 720040 KyrgyzstanChoduraa DorzhuState University of Tuva Republic Kyzyl RussiaFiruza NasyrovaLaboratory of Plant Genetics Institute of Botany, Plant Physiology and Genetics, TAS Dushanbe 734063 TajikistanBoris ChichloEco‐anthropologie et Ethnobiologie UMR 7206 CNRS, MNHN, Univ Paris Diderot, Sorbonne Paris Cité F‐75016 Paris FranceLaure SégurelEco‐anthropologie et Ethnobiologie UMR 7206 CNRS, MNHN, Univ Paris Diderot, Sorbonne Paris Cité F‐75016 Paris FranceÉvelyne HeyerEco‐anthropologie et Ethnobiologie UMR 7206 CNRS, MNHN, Univ Paris Diderot, Sorbonne Paris Cité F‐75016 Paris France
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OBJECTIVES: Sex-specific genetic structures have been previously documented worldwide in humans, even though causal factors have not always clearly been identified. In this study, we investigated the impact of ethnicity, geography and social organization on the sex-specific genetic structure in Inner Asia. Furthermore, we explored the process of ethnogenesis in multiple ethnic groups. METHODS: We sampled DNA in Central and Northern Asia from 39 populations of Indo-Iranian and Turkic-Mongolic native speakers. We focused on genetic data of the Y chromosome and mitochondrial DNA. First, we compared the frequencies of haplogroups to South European and East Asian populations. Then, we investigated the genetic differentiation for eight Y-STRs and the HVS1 region, and tested for the effect of geography and ethnicity on such patterns. Finally, we reconstructed the male demographic history, inferred split times and effective population sizes of different ethnic groups. RESULTS: Based on the haplogroup data, we observed that the Indo-Iranian- and Turkic-Mongolic-speaking populations have distinct genetic backgrounds. However, each population showed consistent mtDNA and Y chromosome haplogroups patterns. As expected in patrilocal populations, we found that the Y-STRs were more structured than the HVS1. While ethnicity strongly influenced the genetic diversity on the Y chromosome, geography better explained that of the mtDNA. Furthermore, when looking at various ethnic groups, we systematically found a genetic split time older than historical records, suggesting a cultural rather than biological process of ethnogenesis. CONCLUSIONS: This study highlights that, in Inner Asia, specific cultural behaviors, especially patrilineality and patrilocality, leave a detectable signature on the sex-specific genetic structure.

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