medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2022.12.48-51medgen-2216Research ArticleКРАТКОЕ СООБЩЕНИЕBRIEF REPORTПолиморфизм локуса rs1815739 «гена скорости» ACTN3 в популяциях СибириPolymorphism of the rs1815739 locus of the «speed gene» ACTN3 in Siberian populationsМалярчукБ. А.MalyarchukB. A.malyarchuk@ibpn.ruДеренкоМ. В.DerenkoM. V.noemail@neicon.ruДенисоваГ. А.DenisovaG. A.noemail@neicon.ruЛитвиновА. Н.LitvinovA. N.noemail@neicon.ruИнститут биологических проблем Севера Дальневосточного отделения Российской академии наукРоссияInstitute of Biological Problems of the North, Far-Eastern Branch of Russian Academy of SciencesRussian Federation20221301202321124851Copyright © Малярчук Б.А., Деренко М.В., Денисова Г.А., Литвинов А.Н., 20232023Малярчук Б.А., Деренко М.В., Денисова Г.А., Литвинов А.Н.Malyarchuk B.A., Derenko M.V., Denisova G.A., Litvinov A.N.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/2216

Потеря активности гена ACTN3 из-за стоп-кодона в локусе rs1815739 (аллель rs1815739-T или 577X) приводит к отсутствию α-актинина-3 в быстросокращающихся мышечных волокнах, что способствует повышению выносливости и устойчивости к холоду. Эти обстоятельства стали основой для гипотезы о том, что повышение частоты аллеля rs1815739-T в популяциях Евразии и Америки в сравнении с Африкой произошло под действием отбора еще на начальных этапах освоения планеты человеком. В настоящей работе нами проанализирован полиморфизм локуса rs1815739 в популяциях Сибири - на юге (буряты, алтайцы, тувинцы, тоджинцы) и на севере (чукчи, коряки, эвены, эвенки) региона. Показано, что, вопреки вышеупомянутой гипотезе, частота аллеля rs1815739-T выше на юге Сибири, а к северу, наоборот, повышается частота аллеля rs1815739-C и генотипа CC. Результаты исследования позволяют предположить, что характер распространения вариантов полиморфизма локуса rs1815739 гена ACTN3 в сибирских популяциях не связан с адаптацией к холоду.

Loss of ACTN3 gene activity due to a stop codon at the rs1815739 locus (rs1815739-T or 577X allele) leads to the absence of α-actinin-3 in fast-twitch muscle fibers, which contributes to increased endurance and resistance to cold. These circumstances became the basis for the hypothesis that the increase in the frequency of the rs1815739-T allele in the populations of Eurasia and America, in comparison with Africa, occurred under the influence of selection at the initial stages of human exploration of the planet. In this work, we analyzed the polymorphism of the rs1815739 locus in the populations of Siberia - in the south (Buryats, Altaians, Tuvinians, Todjins) and north (Chukchi, Koryaks, Evens, Evenks) of the region. We have shown that, contrary to the above hypothesis, the frequency of the rs1815739-T allele is higher in the south of Siberia, while in the northern direction, on the contrary, the frequency of the rs1815739-C allele and the CC genotype increases. The results of the study suggest that the distribution pattern of the rs1815739 polymorphic variants in Siberian populations is not associated with adaptation to cold.

ген ACTN3генофондадаптация популяцийСибирьACTN3 genegene pooladaptation of populationsSiberiaReferencesMacArthur D.G., Seto J.T., Raftery J.M, et al. Loss of function of the ACTN3 gene alters muscle metabolism in a mouse model and has been selectively favored during recent human evolution. Nat. Genet. 2007;39(10):1261-1265.MacArthur D.G., Seto J.T., Raftery J.M, et al. Loss of function of the ACTN3 gene alters muscle metabolism in a mouse model and has been selectively favored during recent human evolution. Nat. Genet. 2007;39(10):1261-1265.Amorim C.E., Acuña-Alonzo V, Salzano F.M., et al. Differing evolutionary histories of the ACTN3 R577X polymorphism among the major human geographic groups. PLoS ONE. 2015;10(2):e0115449.Amorim C.E., Acuña-Alonzo V, Salzano F.M., et al. Differing evolutionary histories of the ACTN3 R577X polymorphism among the major human geographic groups. PLoS ONE. 2015;10(2):e0115449.Head S.I., Chan S., Houweling P.J., et al. Altered Ca2+ kinetics associated with α-actinin-3 deficiency may explain positive selection for ACTN3 null allele in human evolution. PLoS Genet. 2015;11(2):e1004862.Head S.I., Chan S., Houweling P.J., et al. Altered Ca2+ kinetics associated with α-actinin-3 deficiency may explain positive selection for ACTN3 null allele in human evolution. PLoS Genet. 2015;11(2):e1004862.Wyckelsma V.L., Venckunas T., Houweling P.J., et al. Loss of α-actinin-3 during human evolution provides superior cold resilience and muscle heat generation. Am. J. Hum. Genet. 2021;108(3):446-457.Wyckelsma V.L., Venckunas T., Houweling P.J., et al. Loss of α-actinin-3 during human evolution provides superior cold resilience and muscle heat generation. Am. J. Hum. Genet. 2021;108(3):446-457.Bramble D.M., Lieberman D.E. Endurance running and the evolution of Homo. Nature. 2004;432(7015):345-352.Bramble D.M., Lieberman D.E. Endurance running and the evolution of Homo. Nature. 2004;432(7015):345-352.Mörseburg A., Pagani L., Malyarchuk B., et al. Response to Wyckelsma et al.: Loss of α-actinin-3 during human evolution provides superior cold resilience and muscle heat generation. Am. J. Hum. Genet. 2022;109(5):967-972.Mörseburg A., Pagani L., Malyarchuk B., et al. Response to Wyckelsma et al.: Loss of α-actinin-3 during human evolution provides superior cold resilience and muscle heat generation. Am. J. Hum. Genet. 2022;109(5):967-972.Малярчук Б.А., Деренко М.В., Денисова Г.А. R577X-полиморфизм альфа-актинина-3 в популяциях человека на Северо-Востоке Азии. Экологическая генетика. 2017;15(1):50-56.Малярчук Б.А., Деренко М.В., Денисова Г.А. R577X-полиморфизм альфа-актинина-3 в популяциях человека на Северо-Востоке Азии. Экологическая генетика. 2017;15(1):50-56.Ahmetov I.I., Druzhevskaya A.M., Astratenkova I.V., et al. The ACTN3 R577X polymorphism in Russian endurance athletes. Br. J. Sports Med. 2010;44(9):649-652.Ahmetov I.I., Druzhevskaya A.M., Astratenkova I.V., et al. The ACTN3 R577X polymorphism in Russian endurance athletes. Br. J. Sports Med. 2010;44(9):649-652.Pasqua L.A., Bueno S., Matsuda M., et al. The genetics of human running: ACTN3 polymorphism as an evolutionary tool improving the energy economy during locomotion. Ann. Hum. Biol. 2016;43(3):255-260.Pasqua L.A., Bueno S., Matsuda M., et al. The genetics of human running: ACTN3 polymorphism as an evolutionary tool improving the energy economy during locomotion. Ann. Hum. Biol. 2016;43(3):255-260.Del Coso J., Hiam D., Houweling P., et al. More than a ‘speed gene’: ACTN3 R577X genotype, trainability, muscle damage, and the risk for injuries. Eur. J. Appl. Physiol. 2019;119(1):49-60.Del Coso J., Hiam D., Houweling P., et al. More than a ‘speed gene’: ACTN3 R577X genotype, trainability, muscle damage, and the risk for injuries. Eur. J. Appl. Physiol. 2019;119(1):49-60.Kumagai H., Tobina T., Ichinoseki-Sekine N., et al. Role of selected polymorphisms in determining muscle fiber composition in Japanese men and women. J. Appl. Physiol. 2018;124(5):1377-1384.Kumagai H., Tobina T., Ichinoseki-Sekine N., et al. Role of selected polymorphisms in determining muscle fiber composition in Japanese men and women. J. Appl. Physiol. 2018;124(5):1377-1384.

The authors declare that there are no conflicts of interest present.