المؤلفون: B. A. Malyarchuk, M. V. Derenko, G. A. Denisova, A. N. Litvinov, Б. А. Малярчук, М. В. Деренко, Г. А. Денисова, А. Н. Литвинов

المصدر: Medical Genetics; Том 21, № 12 (2022); 48-51 ; Медицинская генетика; Том 21, № 12 (2022); 48-51 ; 2073-7998

مصطلحات موضوعية: Сибирь, gene pool, adaptation of populations, Siberia, генофонд, адаптация популяций

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/2216/1681; 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.; 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.; 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.; 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.; 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.; 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.; https://www.medgen-journal.ru/jour/article/view/2216

الاتاحة: https://www.medgen-journal.ru/jour/article/view/2216
https://doi.org/10.25557/2073-7998.2022.12.48-51

المؤلفون: B. A. Malyarchuk, M. V. Derenko, G. A. Denisova, A. N. Litvinov, Б. А Малярчук, М. В. Деренко, Г. А. Денисова, А. Н. Литвинов

المصدر: Vavilov Journal of Genetics and Breeding; Том 20, № 5 (2016); 571-575 ; Вавиловский журнал генетики и селекции; Том 20, № 5 (2016); 571-575 ; 2500-3259 ; 2500-0462

مصطلحات موضوعية: адаптивная эволюция, human populations, Siberia, molecular phylogeography, adaptive evolution, популяции человека, Сибирь, молекулярная филогеография

وصف الملف: application/pdf

Relation: https://vavilov.elpub.ru/jour/article/view/802/824; Bat’yanova E.P., Turaev V.A. (Eds.) Narody Severo-Vostoka Sibiri. [Peoples of North-East Siberia]. Moscow, Nauka Publ., 2010. (in Russian); Cardona A., Pagani L., Antao T., Lawson D.J., Eichstaedt C.A., Yngvadottir B., Shwe M.T.T., Wee J., Romero I.G., Raj S., Metspalu M., Villems R., Willerslev E., Tyler-Smith C., Malyarchuk B.A., Derenko M.V., Kivisild T. Genome-wide analysis of cold adaption in indigenous Siberian populations. PLoS ONE. 2014;9:e98076. DOI 10.1371/journal.pone.0098076.; Clemente F.J., Cardona A., Inchley C.E., Peter B.M., Jacobs G., Pagani L., Lawson D.J., Antão T., Vicente M., Mitt M., DeGiorgio M., Faltyskova Z., Xue Y., Ayub Q., Szpak M., Mägi R., Eriksson A., Manica A., Raghavan M., Rasmussen M., Rasmussen S., Willerslev E., Vidal-Puig A., Tyler-Smith C., Villems R., Nielsen R., Metspalu M., Malyarchuk B., Derenko M., Kivisild T. A selective sweep on a deleterious mutation in the CPT1A gene in Arctic populations. Am. J. Hum. Genet. 2014;95:584-589. DOI 10.1016/j.ajhg.2014.09.016.; Excoffier L., Laval G., Balding D. Gametic phase estimation over large genomic regions using an adaptive window approach. Hum. Genomics. 2003;1:7-19. DOI 10.1186/1479-7364-1-1-7.; Excoffier L., Laval G., Schneider S. Arlequin (version 3.0): an integrated software package for population genetics data analysis. Evol. Bioinform. Online. 2007;1:47-50.; Greenberg C.R., Dilling L.A., Thompson G.R., Seargeant L.E., Haworth J.C., Phillips S., Chan A., Vallance H.D., Waters P.J., Sinclair G., Lillquist Y., Wanders R.J., Olpin S.E. Mol. Genet. Metab. 2009;96:201-207. DOI 10.1016/j.ymgme.2008.12.018.; Lemas D.J., Wiener H.W., O’Brien D.M., Hopkins S., Stanhope K.L., Havel P.J., Allison D.B., Fernandez J.R., Tiwari H.K., Boyer B.B. Genetic polymorphisms in carnitine palmitoyltransferase 1A gene are associated with variation in body composition and fasting lipid traits in Yup’ik Eskimos. J. Lipid Res. 2012;53:175-184. DOI 10.1194/jlr.P018952.; Rajakumar C., Ban M.R., Cao H., Young T.K., Bjerregaard P., Hegele R.A. Carnitine palmitoyltransferase IA polymorphism P479L is common in Greenland Inuit and is associated with elevated plasma apolipoprotein A-I. J. Lipid Res. 2009;50:1223-1228. DOI 10.1194/jlr.P900001-JLR200.; Tamura K., Peterson D., Peterson N., Stecher G., Nei M., Kumar S. MEGA5: molecular evolutionary genetics analysis using maximum likelihood, evolutionary distance, and maximum parsimony methods. Mol. Biol. Evol. 2011;28:2731-2739. DOI 10.1093/molbev/msr121.; Untergasser A., Cutcutache I., Koressaar T., Ye J., Faircloth B.C., Remm M., Rozen S.G. Primer3 – new capabilities and interfaces. Nucleic Acids Res. 2012;40:e115. DOI 10.1093/nar/gks596.; Vasilievsky R.S. Proiskhozhdenie i drevnyaya kul’tura koryakov [Origin and Ancient Culture of Koryaks]. Novosibisrsk, Nauka Publ., 1971. (in Russian); Vdovin I.S. Ocherki etnicheskoy istorii koryakov [Essays on the Ethnic History of Koryaks]. Leningrad, Nauka Publ., 1973. (in Russian); https://vavilov.elpub.ru/jour/article/view/802

الاتاحة: https://vavilov.elpub.ru/jour/article/view/802
https://doi.org/10.18699/VJ16.130