The DOI matches its Crossref record; 69 of the 69 references it cites were found in a registry or an index.
Sex‐specific genetic diversity is shaped by cultural factors in Inner Asian human populations
Abstract
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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“These populations practice group exogamy, resulting in the migration of women between descent groups.”
From Patrilineal segmentary systems provide a peaceful explanation for the post-Neolithic Y-chromosome bottleneck (2024) · cites this paper as [36]
In the citing paper
“The patrilineal descent rule, according to which individuals are affiliated with the descent group of their father, is also known to reduce Y-chromosome diversity.”
From Patrilineal segmentary systems provide a peaceful explanation for the post-Neolithic Y-chromosome bottleneck (2024) · cites this paper as [36]
In the citing paper
“Indeed, within patrilineal lineages or clans, men are closely related on paternal genealogical lines and share similar Y chromosomes33–36.”
From Patrilineal segmentary systems provide a peaceful explanation for the post-Neolithic Y-chromosome bottleneck (2024) · cites this paper as [36]
In the citing paper
“In Central Asia, present-day patrilineal populations were shown to have lower male than female effective population sizes37, along with reduced Y-chromosome diversity as compared to non-patrilineal (but patrilocal) populations36,38.”
From Patrilineal segmentary systems provide a peaceful explanation for the post-Neolithic Y-chromosome bottleneck (2024) · cites this paper as [36]
Citations
Cites
R: A Language and Environment for Statistical Computing
R Core Team (2000) · doi:10.32614/r.manuals · Cited by 355,987
Molecular Cloning. A Laboratory Manual
Wood, E. (1983) · Biochemical Education · doi:10.1016/0307-4412(83)90068-7 · Cited by 29,534
Arlequin (version 3.0): An integrated software package for population genetics data analysis
Excoffier, L., Laval, G., & Schneider, S. (2005) · Evolutionary Bioinformatics · doi:10.1177/117693430500100003 · Cited by 14,265
Excoffier, L., Smouse, P. E., & Quattro, J. M. (1992) · Genetics · doi:10.1093/genetics/131.2.479 · Cited by 13,929
The Scree Test For The Number Of Factors
Cattell, R. B. (1966) · Multivariate Behavioral Research · doi:10.1207/s15327906mbr0102_10 · Cited by 13,554
ESTIMATION OF AVERAGE HETEROZYGOSITY AND GENETIC DISTANCE FROM A SMALL NUMBER OF INDIVIDUALS
Nei, M. (1978) · Genetics · doi:10.1093/genetics/89.3.583 · Cited by 11,368
The ade4 Package: Implementing the Duality Diagram for Ecologists
Dray, S., & Dufour, A. (2007) · Journal of Statistical Software · doi:10.18637/jss.v022.i04 · Cited by 6,740
A measure of population subdivision based on microsatellite allele frequencies.
Slatkin, M. (1995) · Genetics · doi:10.1093/genetics/139.1.457 · Cited by 3,617
Integrating common and rare genetic variation in diverse human populations
The International HapMap 3 Consortium (2010) · Nature · doi:10.1038/nature09298 · Cited by 3,026
Worldwide Human Relationships Inferred from Genome-Wide Patterns of Variation
Li, J. Z., Absher, D. M., Tang, H., Southwick, A. M., Casto, A. M., Ramachandran, S., Cann, H. M., Barsh, G. S., Feldman, M. W., Cavalli-Sforza, L. L., et al. (2008) · Science · doi:10.1126/science.1153717 · Cited by 1,956
Research works printed but not linked: 2
- Barth F., 1969, Ethnic groups and boundaries. The social organization of culture difference (results of a symposium held at the University of Bergen, 23rd to 26th February 1967)
- Krader L., 1966, People of Central Asia, 26
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Metadata
- Authors
- Marchi, N., Hegay, T., Mennecier, P., Georges, M., Laurent, R., Whitten, M., Endicott, P., Aldashev, A., Dorzhu, C., Nasyrova, F., Chichlo, B., Ségurel, L., & Heyer, E.
- Affiliations
- Centre National de la Recherche Scientifique (FR)
- Academy of Sciences Republic of Uzbekistan (UZ)
- Max Planck Institute for Evolutionary Anthropology (DE)
- Eco‐anthropologie et Ethnobiologie UMR 7206 CNRS, MNHN, Univ Paris Diderot, Sorbonne Paris Cité F‐75016 Paris France
- National Academy of Sciences of the Republic of Kyrgyzstan (KG)
- State University of Tuva Republic Kyzyl Russia
- Academy of Sciences of the Republic of Tajikistan (TJ)
- Corresponding author
- Marchi, Nina
- Venue
- American Journal of Physical Anthropology
- Publisher
- Wiley
- Published
- 2017-02-03
- Volume
- 162
- Issue
- 4
- Pages
- 627-640
- ISSN
- 0002-9483 (ISSN-L)
- 1096-8644
- OpenAlex
- W2585636766
- Semantic Scholar
- 6ae59560996f2fcc63072cc356b141db32bab4fb
- Cited by
- 38
- References
- 69
- Citations by year
- 2026: 4 · 2025: 3 · 2024: 4 · 2023: 2 · 2022: 4 · 2021: 1 · 2020: 4 · 2019: 3 · 2018: 10 · 2017: 3
- FWCI
- 3.09
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- American Journal of Physical Anthropology (publishedVersion)
- PubMed (publishedVersion)
- HAL (submittedVersion)
- MPG.PuRe (Max Planck Society) (submittedVersion)
- Funders
- Agence Nationale de la Recherche (07‐BLAN‐0064, 10‐ESVS‐0010)
- Centre National de la Recherche Scientifique
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- patrilineality, patrilocality, ethnogenesis, Y chromosome, mitochondrial DNA, Y-chromosome short tandem repeats, Inner Asia, social organization, genetic differentiation, effective population size, split times
- MeSH terms
- Anthropology, Physical, DNA, Mitochondrial, Ethnicity, Female, Genetics, Population, Humans, Kazakhstan, Male, Mongolia, Russia, Genetic Variation, Chromosomes, Human, Y, White People, Asian People
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