Abstract
The genomic data analysis (~886 889 autosomal SNPs) allowed us to estimate the inbreeding level on the basis of the analysis of runs of homozygosity (FROH) in a sample of 1836 individuals, including 76 indigenous populations of Siberia, Dagestan, the Caucasus, Volga-Ural region, Eastern Europe, and Central Asia. The data were obtained using the Infinium Multi-Ethnic Global-8 Kit. In the populations of Dagestan, within the Nakh-Daghestanian language family, representatives of several language groups can be distinguished, with the maximum FROH level for the Dido group (0.0727) and the Andean group (0.0378), which is similar in values to the populations speaking the Chukchi-Kamchatka and Nivkh languages of Siberia (0.0360). The Siberian populations are characterized by a greater value of the total length of short and medium runs of homozygosity per person. The total length of long ROHs is more variable and much larger in the most of the populations of Dagestan and Siberia compared to other populations of the Caucasus, Central Asia, Europe, and the Volga-Ural region.
Similar content being viewed by others
REFERENCES
McQuillan, R., Leutenegger, A.L., Abdel-Rahman, R., et al., Runs of homozygosity in European populations, Am. J. Hum. Genet., 2008, vol. 83, no. 3, pp. 359–372. https://doi.org/10.1016/j.ajhg.2008.08.007
Szpiech, Z.A., Blant, A., and Pemberton, T.J., GARLIC: genomic autozygosity regions likelihood-based inference and classification, Bioinformatics, 2017, vol. 33, no. 13, pp. 2059–2062. https://doi.org/10.1093/bioinformatics/btx102
Lemes, R.B., Nunes, K., Carnavalli, J.E.P., et al., Inbreeding estimates in human populations: applying new approaches to an admixed Brazilian isolate, PLoS One, 2018, vol. 13, no. 4. e0196360. https://doi.org/10.1371/journal.pone.0196360
Ropers, H., New perspectives for the elucidation of genetic disorders, Am. J. Hum. Genet., 2007, vol. 81, no. 2, pp. 199–207. https://doi.org/10.1086/520679
Kirin, M., McQuillan, R., Franklin, C.S., et al., Genomic runs of homozygosity record population history and consanguinity, PLoS One, 2010, vol. 5, no. 11. e13996. https://doi.org/10.1371/journal.pone.0013996
Pemberton, T.J., Absher, D., Feldman, M.W., et al., Genomic patterns of homozygosity in worldwide human populations, Am. J. Hum. Genet., 2012, vol. 91, no. 2, pp. 275–292. https://doi.org/10.1016/j.ajhg.2012.06.014
Ceballos, F.C., Joshi, P.K., Clark, D.W., et al., Runs of homozygosity: windows into population history and trait architecture, Nat. Rev., Genet., 2018, vol. 19, no. 4, pp. 220—234. https://doi.org/10.1038/nrg.2017.109
Frazer, K.A., Ballinger, D.G., Cox, D.R., et al., International HapMap Consortium: a second generation human haplotype map of over 3.1 million SNPs, Nature, 2007, vol. 449, no. 7164, pp. 851–861. https://doi.org/10.1038/nature06258
Karafet, T.M., Bulayeva, K.B., Bulayev, O.A., et al., Extensive genome-wide autozygosity in the population isolates of Daghestan, Eur. J. Hum. Genet., 2015, vol. 23, no. 10, pp. 1405–1412.https://doi.org/10.1038/ejhg.2014.299
Kolesnikov, N.A., Kharkov, V.N., Zarubin, A.A., and Stepanov, V.A., Characteristics of genomic distribution of runs of homozygosity in the indigenous population of Northern Eurasia, Russ. J. Genet., 2019, vol. 55, no. 10, pp. 1294–1298. https://doi.org/10.1134/S1022795419100077
Purcell, S., Neale, B., Todd-Brown, K., et al., PLINK: a tool set for whole-genome association and population-based linkage analyses, Am. J. Hum. Genet., 2007, vol. 81, pp. 559–575. https://doi.org/10.1086/519795
Glazunova, E.O., Khar’kov, V.N., Radzhabov, M.O., et al., Gene pool of the Tsez populations of Dagestan inferred from the data of Y-chromosome markers, Med. Genet., 2016, vol. 15, no. 4, pp. 29–31. https://doi.org/10.1234/XXXX-XXXX-2016-4-29-31
Gadzhiev, A.G., Antropologiya malykh populyatsii Dagestana (Anthropology of the Small Populations of Dagestan), Makhachkala: Dagestanskyi Filial Akad. Nauk SSSR, 1971.
Zhabagin, M., Balanovska, E., Sabitov, Z., et al., The connection of the genetic, cultural and geographic landscapes of Transoxiana, Sci. Rep., 2017, vol. 7, no. 1, p. 3085. https://doi.org/10.1038/s41598-017-03176
Kharkov, V.N., Stepanov, V.A., Medvedeva, O.F., et al., The origin of Yakuts: analysis of the Y-chromosome haplotypes, Mol. Biol. (Moscow), 2008, vol. 42, no. 2, pp. 198–237.
Kharkov, V.N., Khamina, K.V., Medvedeva, O.F., et al., Gene-pool structure of Tuvinians inferred from Y-chromosome marker data, Russ. J. Genet., 2013, vol. 49, no. 12, pp. 1236–1244. https://doi.org/10.1134/S102279541312003X
Kolesnikov, N.A., Kharkov, V.N., Radzhabov, M.O., et al., Differences in the level of inbreeding in populations of Dagestan: analysis of regions with homozygosity, Med. Genet., 2020, vol. 19, no. 7(216), pp. 21–22. https://doi.org/10.25557/2073-7998.2020.07.21-22
Bulaeva, K.B., Davudov, O.M., Pavlova, T.A., et al., Genetic subdivision of Dagestan ethnic populations, Russ. J. Genet., 2003, vol. 39, no. 1, pp. 68–76. https://doi.org/10.1023/A:1022027028666
Bulayeva, K.B., Overview of genetic-epidemiological studies in ethnically and demographically diverse isolates of Dagestan, Northern Caucasus, Russia, Croat. Med. J., 2006, vol. 47, no. 4, pp. 641–648.
Derenko, M.V., Malyarchuk, B.A., Wozniak, M., et al., The diversity of Y-chromosome lineages in indigenous population of South Siberia, Dokl. Biol. Sci., 2006, vol. 411, no. 1, pp. 466–470. https://doi.org/10.1134/S0012496606060123
Kharkov, V.N., Khamina, K.V., Medvedeva, O.F., et al., Gene pool of Buryats: clinal variability and territorial subdivision based on data of Y-chromosome markers, Russ. J. Genet., 2014, vol. 50, no. 2, pp. 180–190. https://doi.org/10.1134/S1022795413110082
Funding
The present study was supported by the Russian Foundation for Basic Research (project no. 19-34-90101).
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Conflict of interest. The authors declare no conflict of interest.
Statement of compliance with standards of research involving humans as subjects. All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. Informed consent was obtained from all individual participants involved in the study.
Additional information
Translated by A. Kazantseva
Rights and permissions
About this article
Cite this article
Kolesnikov, N.A., Kharkov, V.N., Zarubin, A.A. et al. Features of the Genomic Distribution of Runs of Homozygosity in the Indigenous Population of Northern Eurasia at the Individual and Population Levels Based on High Density SNP Analysis. Russ J Genet 57, 1271–1284 (2021). https://doi.org/10.1134/S1022795421110053
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1134/S1022795421110053