Excerpt – Bakhkir subpopulations

Excerpt (Google translation from Russian) of:

  • Lobov Artem – Structure of the Gene Pool of Bashkir Subpopulations, 2009, link.

3. Analysis of Y-chromosome polymorphism in subpopulations Bashkir.

The bulk of Y-chromosomes in the studied subpopulations accounts for three haplogroup (R-M269, R-SRY10831.2 and N-Tat), which together make up from 70% to 100% (Table 5). Exceptions are only the Bashkirs Abzelilovskogo area in which the data haplogroups constitute only 31% of the Y-chromosomes.
Haplogroup R-SRY10831.2 found in all studied subpopulations with
frequency of 7% to 48%.


Frequencies of Y-chromosome haplogroups in Bashkir subpopulations.

Самара и Саратов = Samara and Saratov
Пермская область = Perm Region
Стерлибашевский = Sterlibashevsky
Оренбург (З.) = Orenburg (west)
Оренбург (восток) = Orenburg (east)
Абзелиловский = Abzelilovsky
Баймакский = Baymaksky
Бурзянскиe = Burzyansky

3.1 Haplogroup R-M269 among Bashkir.

In Bashkir subpopulations haplogroup the R-M269 frequency varies considerably from 0.07 until 0.84. Its high frequency among baymakskih and Permian Bashkir are accompanied by moderate and low frequency in other Bashkir groups (Table 5).

This haplogroup was not found only in the sample of sterlibashevskih Bashkir inhabiting the Urals. In the Volga – Ural populations living west of the Bashkir (Tatars – 8.7%, -3.8% Chuvash, Mari – 2.7% and Udmurtia – 2.3%), the frequency of this haplogroup does not exceed 9% except for Mordovians (13.3%) and Komi (16%) [Tambets et al. 2004]. To the south of the Ural mountains (ie Central Asia), this haplogroup is also found with low frequency (Uzbeks – 4.17%, Kirghiz – 1.27% and Tajiks – 4.17%), and besides it was not found among Kazakhs [Kharkov et al. 2005]. On the rarity of the paternal line in populations living east of the Southern Urals can be gauged that ancestral R-P25 in Siberia is very rare [Karafet et al. 2002; Pimenoff et al. 2008].

Some researchers believe that haplogroup R-M269 was spread throughout Western Eurasia in the Upper Paleolithic [Semino et al 2000; Al-Zahery et al. 2003]. The high frequency of the paternal line in populations of the Southern Urals is an unexpected finding, as this haplogroup is not typical for either allied areas (Central Asia, Eastern Europe and Siberia). In order to clarify the origin of this haplogroups in on the southern Urals, we analyzed the phylogenetic relationships between microsatellite haplotypes in populations of Bashkir and West Asia, South Asia and Balkans, Europe (Fig. 4). As a result, phylogenetic analysis identified three clusters microsatellite haplotypes, designated as α, β and γ (Table 6, Fig. 4). It was evident that the bulk of the β cluster haplotypes corresponds to the populations of Europe (50 out of 70 haplotypes cluster β), while the majority of haplotypes in the cluster α (65 of 79 haplotypes) are from South and West Asia.

Figure 4.

Figure 4. Chart maximum savings, reflecting the phylogenetic relationships between microsatellite clusters R-M269 and R-M73

Note: Median networks constructed on the basis of STR-haplotypes (DYS19, DYS390, DYS391, DYS392, DYS393, DYS389I, DYS389II, DYS439, DYS461, DYS388). Haplotypes marked circles and mutational events in microsatellite loci show lines. Nucleotide polymorphisms, corresponding diallelic markers (M269 and M73) are marked by bold lines. Area of circle is proportional to the frequency of haplotype. Circles corresponding haplotype cluster R-M73 is not painted.

It should be noted that the largest cluster of the phylogenetic tree, cluster γ haplotypes, occurs equally in all regions (Europe, Balkans, Asia and South Urals). Over 70% of the haplotypes among the Bashkir belong to this cluster, which apparently is the result of the earliest stage (Upper Paleolithic) resettlements of mutation M269 carriers, that cover a larger area.

The remaining 30% of the haplotypes in the Bashkir or refer to the European or Asian cluster. It follows that the origin of the main part of the cluster haplotype R – M269 at the Bashkir can not be directly attributed to the diversity of contemporary populations densely populated areas of Europe, West Asia or South Asia. Origin haplotype cluster R-M269 in the South Urals and other adjacent Territories were not included in the phylogenetic analysis (Central Asia, Siberia and Eastern Europe), should be associated with the processes of the earliest stages (from age Upper Paleolithic to the Neolithic period) distribution haplogroup R-M269 in Eurasia.

It is in the Upper Paleolithic noted the unity of the stone industry from the coast Atlantic to the Urals. In conclusion, it should be noted that the unusually high frequency of haplogroup R-M269 in the South Urals is accompanied by relatively low values of the variance in the number of repeats within the microsatellite allele cluster (0.10). Relatively low population density, and hence the effective population of this region compared to the densely populated regions West Asia, Europe, the Balkans and South Asia prevented the accumulation of high haplotype diversity.

3.2. Y chromosome haplogroup in subpopulations Bashkir characteristic populations of West and East Asia.

We Bashkir haplogroups characteristic of the population of Western Asia, the Caucasus and North Africa – J-M172, J-M267, E-M35, G-M342, G-P15, detected a very low frequency (E-M35, G-P15, J-M172) or absent (J-M267, G -M342) [Underhill et al. 2001; Cinnioglu et al. 2004;. Cruciani et al. 2004; Semino et al. 2004; Nasidze et al. 2004a].

Haplogroup O-M175, typical for the population of East Asia was found only in eastern Orenburzhye Bashkir (6%) and the Bashkir Saratov and Samara regions (4%). Two subpopulations Bashkir was identified as haplogroup C-M48 (Table 5). This haplogroup is characteristic of North Asia and is found primarily among the peoples who speak the languages of the Altaic family of languages: Mongolian, Turkic and Tungus [Karafet et al. 2002; Katoh et al. 2005; Xue et al. 2006]. It is noteworthy that in the literature, this paternal line is not described by the peoples of the Finno-Ugric group of Western Siberia, Volga-Ural region and North-eastern Europe [Karafet et al. 2002; Tambets et al. 2004; Pimenoff et al. 2008]. Moreover, within East Asia, it occurs only in the northeast and northwest China, the peoples who speak the languages of the Altaic linguistic family [Katoh et al. 2005; Xue et al. 2006].

Thus, we can assume that the geographical distribution haplogroup C-M48 in the north of Siberia and East Asia due to the dispersal of peoples speaking the languages of the Altaic language family. The fact that the paternal line is present in the Turkic peoples of Central Asia (2% Uzbeks to 26% among the Kazakhs) and Bashkir Southern Urals, but absent in the Finnish-speaking peoples of the Volga and the Slavic peoples of Eastern Europe, spoke about the connection of this line with the resettlement altaeyazychnyh People [Karafet et al. 2002]. Probably, the Bashkir is linked to a greater extent with the influx of Turkic tribes (4-16 century AD).

Recently, it was found that haplogroup R-M73 and R-M269 are derivatives of one ancestral line [Karafet et al. 2008]. It is known that haplogroup R-M269 is found throughout western Eurasia, while its sister branch (R-M73) is virtually absent in this area and our data shows that the area of distribution of the line, most likely, is located slightly east, ie . limited to Central Asia and Volga-Ural region. In particular, our work has been shown that the two groups of Bashkir Trans-Uralian this haplogroup is 19% (Burzyan Bashkirs) and 55% (abzelilovskie Bashkirs) paternal lines. With a bit of speed it was found in baymakskih (1%), Permian (2%), Saratov and Samara Bashkir (2%), and the Tatars (5%). According to published data, haplogroup R-M73 detected only in the people of Hazara in northern Pakistan (32%) and Anatolian Turks (4 of 523 chromosomes) [Cinnioglu et al. 2004; Sengupta et al. 2006]. This haplogroup has not yet found in Europe, Africa, West Asia and South Asia [Cruciani et al. 2002; Al-Zahery et al. 2003; Luis et al. 2004; Alonso et al. 2005; Karlsson et al. 2006;. Sengupta et al. 2006; Zalloua et al. 2008].

Thus, haplogroup R-M73 is virtually absent throughout the West Eurasia, but found the people of Hazara (Mongolian origin) and the Turkic peoples of the Volga-Ural region (the Bashkir and Tatar) and Anatolia [Qamar et al. 2002]. In In genetic terms common to these people is that they have some Central Asian and / or South Siberian genetic component.

Haplogroups characteristic of Asian populations (O-M175, C-M130 (xM48), C – M48), total represented only a small proportion of paternal lines in the Bashkir (up to 15%).
Consequently, the arrival of the Southern Ural populations, supporting the Asian lines, minor genetic contribution. Mongol and Turkic-speaking peoples, of course, can be attributed to these populations and, therefore, left their genetic contribution is not dominant in the modern gene pool of the Bashkir.

Haplogroup N-Tat is present in all subpopulations studied Bashkir with rate of 3% in the Permian Bashkir up to 65% in the Bashkir Orenburg region (Table 5). This haplogroup is widespread throughout the north eastern Europe and Siberia [Rootsi et al. 2007]. Haplogroup N-P43, in contrast, was detected only in the two subpopulations Bashkir (Table 5), which is consistent with data on more limited habitat of the nursing branch. We built a phylogenetic tree of haplotypes cluster N – LLY22g/M231 (Fig. 5).

Figure 5.

Figure 5. Chart maximum savings, reflecting the phylogenetic relationships of N-LLY22g/M231.

Note: The median networks were constructed on the basis of STR-haplotypes (DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439). Haplotypes marked circles and mutational events in microsatellite loci show lines. Nucleotide polymorphisms, corresponding diallelic markers (Tat, P43 and M128) are marked by bold lines. Area of circle is proportional to the frequency of haplotype and the fill color corresponds to the geographical source of the sample.

The analysis included a sample Bashkir subpopulations, populations of Eastern Europe, Siberia and East Asia. The resulting phylogenetic tree shows that the derivatives of the branches of the cluster N-M231 arose and differentiated in Asia. In general, phylogenetic analysis confirms the model Rootsi et al., 2007, according to which cluster N-M231/LLY22g originated in northern China / South Siberia and further spread through Siberia, across the north of Eurasia.

The emergence of media haplogroup N-Tat in the Southern Urals can be contacted on at least two waves of migration, each of which could lead to a flow genes from Siberia. Firstly, it is the movement of uralic groups of approximately four and three thousand years ago DE and the arrival of Turkic-speaking nomads in the period IV-XVI century AD [Kuzeyev 1974; Yusupov 2006]. It should be noted that the group did not originate from Siberia, but has a large Siberian genetic component. Although the arrival of Turkic tribes in the Southern Urals can explain the flow of haplogroup N-Tat, the distribution pattern of the haplogroup as a whole through the Volga – Ural region indicates a possible paternal link to these uralic groups. Thus, it is known that the high frequency of this haplogroup is characteristic for Finno-Ugric peoples of Western Siberia and Volga regions, while southern neighbors Bashkir speaking Turkic languages – Kazakh, Uzbek and Kyrgyz its frequency significantly lower [Karafet et al. 2002; Tambets et al. 2004; Rootsi et al. 2007; Pimenoff et al. 2008].

Given the fact that in the Bashkir ethnogenesis participated Finno-Ugric tribes, the high frequency of the paternal line in the five subpopulations Bashkir (Table 5), compared with the Turkic-speaking neighbors in Central Asia, is consistent with the assumption of a Finno-Ugric genetic contribution. The high frequency of this haplogroup from the Turkic Tatars and Chuvash, as compared with CA people can also be explained by the presence of the Finno-Ugric substrate. Since Finnish-speaking peoples of the Baltic are also characterized by a high frequency of haplogroup N-Tat, a high frequency along the paternal line of the Bashkirs should be connected with the Finno-Ugric substratum of the Southern Urals, rather than with the genetic contribution Central Asian nomads. This conclusion does not exclude the possibility that some proportion of paternal lines of Siberian origin (N-Tat) in Bashkir may be associated with arrival of Turks in the Southern Urals. However, everything indicates that gene flow from Siberia occurred in prehistoric times, since the high frequency of this haplogroup in Baltic can not be explained by historical events.

3.3 West Eurasian haplogroups found in Bashkir subpopulations.

Haplogroup R-SRY10831.2 and R-M269 dominate in different parts of Europe (R – SRY10831.2 the east and R-M269 in the west), but their range is not limited to these continent [Semino et al. 2000; Rosser et al. 2000; Karafet et al. 2002; Kivisild et al. 2003; Cinnioglu et al. 2004; Sengupta et al. 2006]. Derivative line haplogroup I-M170, in contrast, are found mainly in Europe, reaching 40-50% in different parts of the continent: in Scandinavia and north-western Balkans [Rootsi et al. 2004].

According to our data, most of the studied subpopulations (6 of 9) Bashkir haplogroup R-SRY10831.2 and R-M269 cumulatively form the basis of Y-chromosome pool (from 63% to 96%), whereas the derivatives of the cluster I-M170 is practically absent: we found only a few chromosomes with markers I-P37 and I-M170 (xP37, M253, M223) in the western and eastern Orenburgskikh Bashkir (Table 5). In western neighbors Bashkir derivatives Cluster M170 also occur rarely – the Tatars (4%) and Udmurt (1.1%), but their frequency increases in a westerly direction (from 8.1% and Mari 11.4% of the Chuvash), reaching 19.3% in Mordvinians and 17.2% in Russian [Tambets et al. 2004; Balanovsky et al. 2008]. This distribution is thus consistent with the decreasing gradient of the frequency of this haplogroup along eastern Europe toward the South Urals. Since this distribution can serve as a marker of gene flow from Europe, in this case we can speak of an insignificant effect on the populations of Europe gene pool of the Southern Urals. In sum, we presented data that there is no or a slight penetration of the South Ural carriers typically European (I – M253, M223, P37) and Near Eastern (J-M172, J-M267, E-M35, G-M342, G-P15) haplogroups in the recent historical past. Since there is no trace of mass migrations from Europe and western Asia, the reasons for the predominance of the main haplogroups (R – SRY10831.2 and R-M269) in the southern Urals are to be found in the processes of early settlement this region. Uniquely relating data of the paternal line with the processes of settlement the Upper Paleolithic, Mesolithic and Neolithic of the Southern Urals is not possible at the present level of our knowledge. However, the distribution of carcass and Andronovo complex archaeological cultures in the southern Urals in the Bronze Age suggests that the colonization of the region occurred in the human exploration of western Eurasia [Mallory et al. 2002]. This period of settlement of the Southern Urals remains little studied, and we consider the Western Eurasian component discovered in the gene pool of the Bashkir as a genetic reservoir, that originated (?) from pre-Türkic populations of the region. One components of this population was of Finno-Ugric tribes, and in this respect, it is important to note that the paternal component unanimously attributable to the genetic heritage of Uralic groups (N-Tat and N-P43), constitute a significant proportion of Y-chromosome Bashkir. With regard to the Indo-Iranian component of the ancient inhabitants of the Southern Urals, in literature the possible connection of haplogroup R-SRY10831.2 is discussed about resettlement of Indo-Iranians in the Black Sea, Central Asia, Iran and India. This hypothesis remains controversial, and perhaps it will be partly solved by more careful study phylogeography derivatives branches of the cluster R-SRY10831.2.

The genetic contribution of the Turkic nomads of the gene pool of the Bashkir also traced, but evaluation of its role is complicated by the fact that the Turkic tribes were a confederation of tribes of mixed descent, being genetically heterogeneous.

Figure 6.

Figure 6. The situation of populations in the space of two first principal component according to the Y chromosome haplogroup frequencies.

Analysis of Y chromosome haplogroup frequencies, conducted by the method of principal components in the Bashkir subpopulations and populations of Europe and Asia showed that the first two components explain up to 41.3% of genetic diversity. Bashkir subpopulations do not form a distinct cluster, and distributed on the graph between the populations of Siberia, Eastern Europe and the Middle East. Most similar to Asian populations Orenburg (east) and sterlibashevskie Bashkirs. It is also interesting to note that gayninskie and baymakskie Bashkirians were next on the schedule. This location on the chart due to the high frequency of haplogroup R1b3 in these populations that may have resulted from genetic drift in them in conditions of prolonged isolation [Kuzeyev 1974; Yusupov, 2006].

In general, the data on the system of three molecular genetic markers formed the complete picture of genetic relationships among subpopulations Bashkir and other peoples of the world. Different marker system greatly complement each other, providing separate information on paternal and maternal contribution to the genetic history of populations of Bashkir. It should be noted that the genetic structure of the Bashkir subpopulations obtained by analysis of Y chromosomes, reveals significant differences as the results of the mtDNA data and the results obtained from data on the frequency distribution of Alu insertions. These differences are explained as different effective population sizes (when compared to single parental markers Alu insertion type) and the phenomenon patrilokal ARRANGEMENTS (when comparing the Y chromosome and mtDNA), as well as the pressure of multiple demographic factors at different stages in the formation of this ethnic group that has influenced contemporary appearance of subpopulations of Bashkir.

Also keep in mind that we can observe and describe, respectively, only events that left an imprint in the genes of modern populations and that part of demographic events were inevitably wiped off the genetic picture of populations.

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