Email this article Signals of Positive Selection in Human Populations of Siberia and European Russia
- Authors: Vagaitseva K.V.1, Khitrinskaya I.Y.1, Bocharova A.V.1, Kolesnikov N.A.1, Zarubin A.A.1, Popovich A.A.1, Marusin A.V.1, Swarovskaya M.G.1, Triska P.2, Tatarinova T.V.3, Stepanov V.A.1, Kharkov V.N.1
-
Affiliations:
- Research Institute of Medical Genetics, Tomsk National Medical Research Center
- Second Faculty of Medicine, Charles University in Prague
- Department of Biology, La Verne University
- Issue: Vol 55, No 10 (2019)
- Pages: 1250-1258
- Section: Human Genetics
- URL: https://journals.rcsi.science/1022-7954/article/view/189629
- DOI: https://doi.org/10.1134/S1022795419100120
- ID: 189629
Cite item
Open Access
Access granted
Subscription Access
Abstract
Human adaptation to extreme climatic and geographic conditions mediated by natural selection may be one of the major factors for formation of genetic structure in North Eurasian populations. Using data on a genome-wide set of single nucleotide polymorphisms (SNPs), we searched for the signals of positive selection in five populations of Siberia and the Russian European North. From 113 to 185 genomic regions with extended homozygous haplotypes blocks containing altogether 771 genes were found in each of the populations. Cross-population search of the selection targets resulted in about 150 genomic regions, 57 of which overlap with the results of haplotype analysis in individual populations. Genomic loci with the most profound signals of positive selection in northern populations include regions of SLC30A9, CACNA1C, KCNQ5, ABCA1, ALDH1A2, CSMD1, RBFOX1, and WWOX, as well as some other genes. Bioinformatics analysis demonstrated that major biological processes where selection targets are implicated are those conferring the response to external stimuli, including proteins, nutrients, and glucose, and defense reactions, including inflammatory immune response. The network of protein-protein interactions of genes under positive selection forms distinct clusters related to a number of biological processes indicated above. Results of the study indicate that non-neutral microevolution mechanisms may play a substantial role in genetic structuring of the human populations during long-term adaptation to unfavorable environmental conditions.
About the authors
K. V. Vagaitseva
Research Institute of Medical Genetics, Tomsk National Medical Research Center
Email: vadim.stepanov@medgenetics.ru
Russian Federation, Tomsk, 634050
I. Yu. Khitrinskaya
Research Institute of Medical Genetics, Tomsk National Medical Research Center
Email: vadim.stepanov@medgenetics.ru
Russian Federation, Tomsk, 634050
A. V. Bocharova
Research Institute of Medical Genetics, Tomsk National Medical Research Center
Email: vadim.stepanov@medgenetics.ru
Russian Federation, Tomsk, 634050
N. A. Kolesnikov
Research Institute of Medical Genetics, Tomsk National Medical Research Center
Email: vadim.stepanov@medgenetics.ru
Russian Federation, Tomsk, 634050
A. A. Zarubin
Research Institute of Medical Genetics, Tomsk National Medical Research Center
Email: vadim.stepanov@medgenetics.ru
Russian Federation, Tomsk, 634050
A. A. Popovich
Research Institute of Medical Genetics, Tomsk National Medical Research Center
Email: vadim.stepanov@medgenetics.ru
Russian Federation, Tomsk, 634050
A. V. Marusin
Research Institute of Medical Genetics, Tomsk National Medical Research Center
Email: vadim.stepanov@medgenetics.ru
Russian Federation, Tomsk, 634050
M. G. Swarovskaya
Research Institute of Medical Genetics, Tomsk National Medical Research Center
Email: vadim.stepanov@medgenetics.ru
Russian Federation, Tomsk, 634050
P. Triska
Second Faculty of Medicine, Charles University in Prague
Email: vadim.stepanov@medgenetics.ru
Czech Republic, Prague, 11000
T. V. Tatarinova
Department of Biology, La Verne University
Email: vadim.stepanov@medgenetics.ru
United States, La Verne, CA 91750
V. A. Stepanov
Research Institute of Medical Genetics, Tomsk National Medical Research Center
Author for correspondence.
Email: vadim.stepanov@medgenetics.ru
Russian Federation, Tomsk, 634050
V. N. Kharkov
Research Institute of Medical Genetics, Tomsk National Medical Research Center
Email: vadim.stepanov@medgenetics.ru
Russian Federation, Tomsk, 634050
Supplementary files
