Polymorphism in the TRP8 gene in Kyrgyz population: putative association with highland adaptation
The human TRPM8 gene encodes a receptor mediating cold sensitivity, and this fact points to its putative role in cold adaptation. The structural variability of the TRPM8 gene for five single-nucleotide polymorphisms (SNPs) has been studied in Kyrgyz population. The SNPs are located in coding regions...
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Siberian Branch of the Russian Academy of Sciences, Federal Research Center Institute of Cytology and Genetics, The Vavilov Society of Geneticists and Breeders
2015-12-01
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| Series: | Вавиловский журнал генетики и селекции |
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| Online Access: | https://vavilov.elpub.ru/jour/article/view/456 |
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| author | V. N. Babenko Ж. Т. Isakova E. T. Talaibekova D. A. Asambaeva V. F. Kobzev T. A. Potapova M. I. Voevoda A. A. Aldashev |
| author_facet | V. N. Babenko Ж. Т. Isakova E. T. Talaibekova D. A. Asambaeva V. F. Kobzev T. A. Potapova M. I. Voevoda A. A. Aldashev |
| author_sort | V. N. Babenko |
| collection | DOAJ |
| description | The human TRPM8 gene encodes a receptor mediating cold sensitivity, and this fact points to its putative role in cold adaptation. The structural variability of the TRPM8 gene for five single-nucleotide polymorphisms (SNPs) has been studied in Kyrgyz population. The SNPs are located in coding regions of the gene, and three of them are confined to a segment of 20 bp in exon 7. The frequencies of minor SNP alleles are: rs13004520 G/C = 0.06; rs28901637 А/Т = 0.13; rs11562975 G/C = 0.27; rs7593557 G/A = 0.21; rs11563071 С/G = 0.12. The analyzed sample of Kyrgyz population includes 275 individuals living at different altitudes and under drastically different climatic conditions. The frequency of the minor rs11562975 allele in highlanders (living above 2 800 m A. S. L.) is one-third lower than in residents of lower regions (760–2 800 m A. S. L.; p < 0.01). This result presumes a selective role of rs11562975 in cold adaptation. Comparison of haplotype frequencies in Kyrgyz people with Europeans, East Asians, and Africans shows a clear narrowing of genotype variation in Europeans in comparison to all others. Probably, this phenomenon is related to a population size decline (bottleneck effect) during the evolution. We consider the exon– intron structure of the TRPM8 gene. Epigenetic markers in the vicinity of the gene have been analyzed. Two strong binding sites for insulator ctcf proteins are present there. They are likely to be associated with chromatin conformation and alternative splicing regulation. A structure–functional characterization of genes for the TRP protein family is provided. |
| format | Article |
| id | doaj-art-997b3c3c670a453b8e752fe27eeac0db |
| institution | Kabale University |
| issn | 2500-3259 |
| language | English |
| publishDate | 2015-12-01 |
| publisher | Siberian Branch of the Russian Academy of Sciences, Federal Research Center Institute of Cytology and Genetics, The Vavilov Society of Geneticists and Breeders |
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| series | Вавиловский журнал генетики и селекции |
| spelling | doaj-art-997b3c3c670a453b8e752fe27eeac0db2025-02-01T09:58:02ZengSiberian Branch of the Russian Academy of Sciences, Federal Research Center Institute of Cytology and Genetics, The Vavilov Society of Geneticists and BreedersВавиловский журнал генетики и селекции2500-32592015-12-0119563063710.18699/VJ15.080414Polymorphism in the TRP8 gene in Kyrgyz population: putative association with highland adaptationV. N. Babenko0Ж. Т. Isakova1E. T. Talaibekova2D. A. Asambaeva3V. F. Kobzev4T. A. Potapova5M. I. Voevoda6A. A. Aldashev7Institute of Cytology and Genetics SB RAS, Novosibirsk, Russia Novosibirsk State University, Novosibirsk, RussiaInstitute of Molecular Biology and Medicine, National Center for Cardiology and Therapy, Ministry of Health Care of the Kyrgyz Republic, Bishkek, Kyrgyz RepublicInstitute of Molecular Biology and Medicine, National Center for Cardiology and Therapy, Ministry of Health Care of the Kyrgyz Republic, Bishkek, Kyrgyz RepublicInstitute of Molecular Biology and Medicine, National Center for Cardiology and Therapy, Ministry of Health Care of the Kyrgyz Republic, Bishkek, Kyrgyz RepublicInstitute of Cytology and Genetics SB RAS, Novosibirsk, RussiaInstitute of Cytology and Genetics SB RAS, Novosibirsk, RussiaInstitute of Cytology and Genetics SB RAS, Novosibirsk, Russia Institute of Internal and Preventive Medicine, SB RAS, Novosibirsk, RussiaInstitute of Molecular Biology and Medicine, National Center for Cardiology and Therapy, Ministry of Health Care of the Kyrgyz Republic, Bishkek, Kyrgyz RepublicThe human TRPM8 gene encodes a receptor mediating cold sensitivity, and this fact points to its putative role in cold adaptation. The structural variability of the TRPM8 gene for five single-nucleotide polymorphisms (SNPs) has been studied in Kyrgyz population. The SNPs are located in coding regions of the gene, and three of them are confined to a segment of 20 bp in exon 7. The frequencies of minor SNP alleles are: rs13004520 G/C = 0.06; rs28901637 А/Т = 0.13; rs11562975 G/C = 0.27; rs7593557 G/A = 0.21; rs11563071 С/G = 0.12. The analyzed sample of Kyrgyz population includes 275 individuals living at different altitudes and under drastically different climatic conditions. The frequency of the minor rs11562975 allele in highlanders (living above 2 800 m A. S. L.) is one-third lower than in residents of lower regions (760–2 800 m A. S. L.; p < 0.01). This result presumes a selective role of rs11562975 in cold adaptation. Comparison of haplotype frequencies in Kyrgyz people with Europeans, East Asians, and Africans shows a clear narrowing of genotype variation in Europeans in comparison to all others. Probably, this phenomenon is related to a population size decline (bottleneck effect) during the evolution. We consider the exon– intron structure of the TRPM8 gene. Epigenetic markers in the vicinity of the gene have been analyzed. Two strong binding sites for insulator ctcf proteins are present there. They are likely to be associated with chromatin conformation and alternative splicing regulation. A structure–functional characterization of genes for the TRP protein family is provided.https://vavilov.elpub.ru/jour/article/view/456trpm8 gene, population analysis, singlenucleotide polymorphisms, associations, distribution, cold adaptation |
| spellingShingle | V. N. Babenko Ж. Т. Isakova E. T. Talaibekova D. A. Asambaeva V. F. Kobzev T. A. Potapova M. I. Voevoda A. A. Aldashev Polymorphism in the TRP8 gene in Kyrgyz population: putative association with highland adaptation Вавиловский журнал генетики и селекции trpm8 gene, population analysis, singlenucleotide polymorphisms, associations, distribution, cold adaptation |
| title | Polymorphism in the TRP8 gene in Kyrgyz population: putative association with highland adaptation |
| title_full | Polymorphism in the TRP8 gene in Kyrgyz population: putative association with highland adaptation |
| title_fullStr | Polymorphism in the TRP8 gene in Kyrgyz population: putative association with highland adaptation |
| title_full_unstemmed | Polymorphism in the TRP8 gene in Kyrgyz population: putative association with highland adaptation |
| title_short | Polymorphism in the TRP8 gene in Kyrgyz population: putative association with highland adaptation |
| title_sort | polymorphism in the trp8 gene in kyrgyz population putative association with highland adaptation |
| topic | trpm8 gene, population analysis, singlenucleotide polymorphisms, associations, distribution, cold adaptation |
| url | https://vavilov.elpub.ru/jour/article/view/456 |
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