Retention of lactase activity in adulthood (lactase persistence) is one of the most important adaptive traits for human populations that consume fresh milk from domestic animals. At a molecular-genetic level, lactase persistence is determined by the presence of specific alleles of polymorphic sites in cis-regulatory elements of the LCT gene located on chromosome 2q21. Ascertainment of the molecular-genetic causes of lactase persistence has made this trait one of the most convenient for studying mechanisms of human population adaptation to environmental conditions. But the populations of many regions remain insufficiently investigated in relation to the genetic variability of the LCT loci. This paper presents the results of polymorphism analysis of loci, including the enhancer element for the LCT gene and its flanking regions, in two Turkic-speaking populations from southern Siberia, Altaian Kazakhs and Khakasses. It was found that the "European" allele LCT-13910T is the most characteristic of the Turkic-speaking populations from Altai-Sayan regions among all the polymorphic variants associated with lactase persistence. The expansion of the "European" allele LCT-13910T to the gene pool of the populations in southern Siberia could be related to migration waves of ancient herders form western Eurasia during the Bronze Age (in III -II millennium BC). A decrease of the LCT-13910T allele frequency and the total frequency of its carriers in the Turkic-speaking populations of southern Siberia in comparison with the majority of European populations Сохранение активности фермента лактазы во взрослом возрасте (персистенция лактазы) является одним из важных адаптативно значимых признаков для популяций человека, потребляющих в пищу свежее молоко домашних животных. На молекулярно-генетическом уровне персистенция лактазы детерминируется наличием специфических аллельных вариантов ряда полиморф-ных позиций в цис-регуляторных элементах гена LCT, расположен-ного на хромосоме 2q21. Установление молекулярно-генетических причин персистенции лактазы сделало этот признак одной из удобных моделей для изучения механизмов адаптации популяций человека к условиям среды. Население многих регионов остается недостаточно исследованным в отношении генетической вариа-бельности этого локуса. В данной работе приведены результаты анализа полиморфизма локуса, включающего в себя энхансерный элемент гена LCT и фланкирующие его районы, в двух тюркоязыч-ных группах населения Южной Сибири -алтайских казахов и хака-сов. Показано, что для тюркоязычного населения Алтае-Саянского региона из всех полиморфных вариантов, ассоциированных с персистенцией лактазы, наиболее характерным является «евро-пейский» аллель LCT-13910T. Проникновение «европейского» аллеля LCT-13910T в генофонд населения Южной Сибири могло быть связано с миграционными волнами древних популяций животноводов Западной Евразии в Южную Сибирь в эпоху бронзы (III-II тысячелетия до н. э.). Снижение частоты аллеля LCT-13910T и суммарной частоты его носителей у тюркоязычных популяций Южной Сибири по с...
Purpose. Despite a long study, the problem of the Okunevo population origin remains unresolved, including the level of participation of autochthonous and possible migrant groups in the formation of its genetic composition. The purpose of this article is to obtain new data on the mitochondrial DNA diversity in the Okunevo population, in particular in a series of samples from the Syda V burial ground, and also to interpret these new paleogenetic results in the light of possible mechanisms for the formation of specific features of the Okunevo gene pool.Results. We successfully analyzed structure, phylogeny and phylogeography of 25 new mitochondrial DNA samples from the burial grounds of the Okunevo culture of the Minusinsk basin. The study made it possible to almost double the total number of successfully studied Okunevo mtDNA samples. The series of samples we studied from the Syda V burial ground (N = 23) is the first high representative local-territorial series of mtDNA samples for the Okunev population of the region. The new results and literature data are discussed in the context of the problem of the formation of the Okunevo population`s genetic composition and its role in the further genetic history of the southern regions of Siberia.Conclusion. The main role in the formation of the Okunev population were played by genetic elements of autochthonous origin associated with the aboriginal pre-Afanasievo groups. Possible role of migrants remains unclear and requires further research using paleogenetic methods.
A new stage in the paleogenetic study of the Odino culture populations includes the analysis of a series of paleoanthropological samples from four Odino burial grounds: Sopka-2/4a, Ust-Tartas-2, Tartas-1, and Preobrazhenka-6. The total number of the expanded Odino series includes more than 200 paleoanthropological samples (individuals). The research plan includes a significant increase in the number of mtDNA samples (up to ~150 samples) and obtaining data on the male genetic variability of the Odino population (~50 samples of the Y chromosome). In this paper, we present the results of the analysis of an extended mtDNA sample series from the Sopka-2/4a burial ground. The study covers paleoanthropological samples from 88 individuals. The structure of mtDNA lineages and their phylogenetic position were defined for 60 individuals (~68 % of the initial sample). Twenty mtDNA haplotypes were identified among the studied samples. The Odino population is characterized by a mixed composition of the mtDNA gene pool, represented by the East Eurasian (A8, A10, C, D, Z) and West Eurasian (U2e, U4. K, HV6, I) haplogroups. New data confirmed the previously obtained preliminary inferences about the dominance of the East Eurasian components in the gene pool and the high role of autochthonous components marking genetic continuity with the previous population groups in the region (A10, D, Z, U2e haplogroups) in the process of formation of the Odino population. At the same time, new components associated with the influx of a genetically contrasting population (K, HV6 haplogroups) into the Baraba forest-steppe were identified in the extended mtDNA series. Obviously, the interaction of autochthonous and migration-related genetic components, most likely, was the mechanism for the formation of genetic features of the Odino population. New genetic data are discussed here in the context of current data on directions of external cultural relations of the Odino population from the Baraba forest-steppe.
Despite the high degree of archaeological and anthropological research of the Tagar culture and its carriers, many directions of study of this Sothern Siberian Iron Age population remain relevant. This work is devoted to the consideration of the data on the genetic composition of the Tagar culture population, obtained to date by paleogenetic methods. The study of representative mtDNA sample series from chronologically different groups of the Tagar population (N = 79), carried out by the authors of this work, allow us to obtain the first objective view on the composition of its mitochondrial gene pool. The obtained results illustrate well the significance of analysis of representative sample series when performing paleogenetic reconstructions. The general Tagar population is characterized by the presence in the gene pool of both Western Eurasian (H, HV6, HV*, I, K, T, U2e, U4, U5a, and U*) and Eastern Eurasian (A*, A8, C*, C5, D, G2a, F1b) mtDNA haplogroups. Unlike other populations of southern Siberia of the Scythian time, Western Eurasian variants dominate in the Tagar gene pool. Among the previous populations, the Tagar population demonstrates affinity with the populations of the Minusinsk Basin of the Middle Bronze Age. When compared with the groups of early nomads of Eurasia, the Tagar population shows a similarity in terms of the mtDNA variability with the carriers of other cultures of the Scythian circle, occupying an intermediate position between the geographically distant Scythians of the Northern Black Sea region and the population of the south Siberian cultures, Pazyryk and Aldy-Bel. During the transition from the Podgorny to the Saragashen stages, the Tagar population converges with other groups of early nomads of southern Siberia. In the Tagar gene pool of the Y chromosome, the dominance of variants of the R1a1a haplogroup was revealed. This genetic cluster was first introduced into the Minusinsk Basin by the carriers of the Andronovo (Fedorovo) culture. However, additional in-depth analysis of the Tagar Y chromosome lineages is required to clarify their origin. The paper presents the most promising directions for further research of the Tagar populations using paleogenetic methods.
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