Distribution of the arctic variant of the CPT1A gene in indigenous populations of Siberia
Population screening of the Arctic variant, which has arisen due to the G > A mutation at locus rs80356779 in the CPT1A gene, has been performed for the first time among indigenous peoples of Siberia (Chukchi, Koryaks, Evens, Evenks, Yakuts, Buryats and Altaians) and East Asia (Koreans). It i...
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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
2016-12-01
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| Series: | Вавиловский журнал генетики и селекции |
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| Online Access: | https://vavilov.elpub.ru/jour/article/view/802 |
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| author | B. A. Malyarchuk M. V. Derenko G. A. Denisova A. N. Litvinov |
| author_facet | B. A. Malyarchuk M. V. Derenko G. A. Denisova A. N. Litvinov |
| author_sort | B. A. Malyarchuk |
| collection | DOAJ |
| description | Population screening of the Arctic variant, which has arisen due to the G > A mutation at locus rs80356779 in the CPT1A gene, has been performed for the first time among indigenous peoples of Siberia (Chukchi, Koryaks, Evens, Evenks, Yakuts, Buryats and Altaians) and East Asia (Koreans). It is assumed that CPT1A Arctic variant originated from Eskimo ancestors, probably as a result of adaptation to a high-fat diet and/or to the extremely cold environment. It is also known that the homozygous Arctic variant is associated with hypoketotic hypoglycemia attributable to CPT1A deficiency and high infant mortality and occurs at high frequency in American Eskimo. On the other hand, the association of CPT1A Arctic variant with increased levels of HDL-cholesterol and apolipoprotein A1 in blood plasma suggests that this mutation might have a cardioprotective role. In the present study, a high frequency of CPT1A Arctic variant has been found in coastal populations of Northeast Asia – in Koryaks (66 %), Chukchi (56 %) and Evens (30 %), and singularly (at a frequency of 1 %) in Evenks of Central Siberia. Five polymorphic loci relevant to the haplotypic structure of CPT1A gene (rs2278908, rs2278907, rs2924699, rs7112615 and rs2229738) were revealed by high-throughput DNA sequencing in addition to locus rs80356779 studied here. It was found that the Arctic variant haplotype has arisen only once on the basis of the haplotype, which is widespread in modern populations of Eurasia. We assume that the expansion of Eskimo culture of the sea mammal hunting as well as Eskimo assimilation by Chukchi and Koryaks have contributed to the spread of the CPT1A Arctic variant across the populations of indigenous peoples of Northeast Asia. |
| format | Article |
| id | doaj-art-76335bbb53824bb0a952f505696964ea |
| institution | Kabale University |
| issn | 2500-3259 |
| language | English |
| publishDate | 2016-12-01 |
| publisher | Siberian Branch of the Russian Academy of Sciences, Federal Research Center Institute of Cytology and Genetics, The Vavilov Society of Geneticists and Breeders |
| record_format | Article |
| series | Вавиловский журнал генетики и селекции |
| spelling | doaj-art-76335bbb53824bb0a952f505696964ea2025-02-01T09:58:03ZengSiberian 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 селекции2500-32592016-12-0120557157510.18699/VJ16.130517Distribution of the arctic variant of the CPT1A gene in indigenous populations of SiberiaB. A. Malyarchuk0M. V. Derenko1G. A. Denisova2A. N. Litvinov3Institute of Biological Problems of the North Far-East Branch of Russian Academy of SciencesInstitute of Biological Problems of the North Far-East Branch of Russian Academy of SciencesInstitute of Biological Problems of the North Far-East Branch of Russian Academy of SciencesInstitute of Biological Problems of the North Far-East Branch of Russian Academy of SciencesPopulation screening of the Arctic variant, which has arisen due to the G > A mutation at locus rs80356779 in the CPT1A gene, has been performed for the first time among indigenous peoples of Siberia (Chukchi, Koryaks, Evens, Evenks, Yakuts, Buryats and Altaians) and East Asia (Koreans). It is assumed that CPT1A Arctic variant originated from Eskimo ancestors, probably as a result of adaptation to a high-fat diet and/or to the extremely cold environment. It is also known that the homozygous Arctic variant is associated with hypoketotic hypoglycemia attributable to CPT1A deficiency and high infant mortality and occurs at high frequency in American Eskimo. On the other hand, the association of CPT1A Arctic variant with increased levels of HDL-cholesterol and apolipoprotein A1 in blood plasma suggests that this mutation might have a cardioprotective role. In the present study, a high frequency of CPT1A Arctic variant has been found in coastal populations of Northeast Asia – in Koryaks (66 %), Chukchi (56 %) and Evens (30 %), and singularly (at a frequency of 1 %) in Evenks of Central Siberia. Five polymorphic loci relevant to the haplotypic structure of CPT1A gene (rs2278908, rs2278907, rs2924699, rs7112615 and rs2229738) were revealed by high-throughput DNA sequencing in addition to locus rs80356779 studied here. It was found that the Arctic variant haplotype has arisen only once on the basis of the haplotype, which is widespread in modern populations of Eurasia. We assume that the expansion of Eskimo culture of the sea mammal hunting as well as Eskimo assimilation by Chukchi and Koryaks have contributed to the spread of the CPT1A Arctic variant across the populations of indigenous peoples of Northeast Asia.https://vavilov.elpub.ru/jour/article/view/802carnitine palmitoyltransferase 1a (cpt1a)human populationssiberiamolecular phylogeographyadaptive evolution |
| spellingShingle | B. A. Malyarchuk M. V. Derenko G. A. Denisova A. N. Litvinov Distribution of the arctic variant of the CPT1A gene in indigenous populations of Siberia Вавиловский журнал генетики и селекции carnitine palmitoyltransferase 1a (cpt1a) human populations siberia molecular phylogeography adaptive evolution |
| title | Distribution of the arctic variant of the CPT1A gene in indigenous populations of Siberia |
| title_full | Distribution of the arctic variant of the CPT1A gene in indigenous populations of Siberia |
| title_fullStr | Distribution of the arctic variant of the CPT1A gene in indigenous populations of Siberia |
| title_full_unstemmed | Distribution of the arctic variant of the CPT1A gene in indigenous populations of Siberia |
| title_short | Distribution of the arctic variant of the CPT1A gene in indigenous populations of Siberia |
| title_sort | distribution of the arctic variant of the cpt1a gene in indigenous populations of siberia |
| topic | carnitine palmitoyltransferase 1a (cpt1a) human populations siberia molecular phylogeography adaptive evolution |
| url | https://vavilov.elpub.ru/jour/article/view/802 |
| work_keys_str_mv | AT bamalyarchuk distributionofthearcticvariantofthecpt1ageneinindigenouspopulationsofsiberia AT mvderenko distributionofthearcticvariantofthecpt1ageneinindigenouspopulationsofsiberia AT gadenisova distributionofthearcticvariantofthecpt1ageneinindigenouspopulationsofsiberia AT anlitvinov distributionofthearcticvariantofthecpt1ageneinindigenouspopulationsofsiberia |