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Thread: More info on Slavic mtDNA (for Dienekes)

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    Account Inactive Polak's Avatar
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    Post More info on Slavic mtDNA (for Dienekes)

    This might be useful for Dienekes, who wrongly interpreted a paper on mtDNA recently claiming that Slavs were the same as, or very similar to, southern Europeans in this respect. Slavic mtDNA has southern origins, as is typical of Caucasoid mtDNA, but it is clearly recognizable these days as northern European mtDNA. (refer to text in bold)


    “The analysis of HVS I and II variability in combination with RFLP typing of the coding region haplogroup-specific sites in a total sample of 248 Bosnian and Slovenian individuals allowed detection of 200 different mitochondrial haplotypes (Table 2). 106 different haplotypes were found among the 144 subjects from Bosnia-Herzegovina and 85 different haplotypes were identified in the sample of 104 Slovenians. This high mtDNA haplotype diversity ensures that only 10 shared HVS I and II haplotypes were found between the populations studied.

    It has been found that the CR sequences are clustered, according to the Eurasian mtDNA classification (Macaulay et al. 1999; Richards et al. 2000; Finniläet al. 2001; Yao et al. 2002), into 20 haplogroups and their subgroups: H, HV2, pre-V, pre-HV, U1, U2, U3, U4, U5, K, J*, J1a, T*, T1, I, N1b, X, W, M*, and Z. In addition, a single African-specific sequence type, belonging to haplogroup L1b, was revealed in a Bosnian sample.

    The haplogroup pre-HV, which is defined by HVS I motif 16126-16362 associated with +14766 MseI site and 73A variant in HVS II (Macaulay et al. 1999; Richards et al. 2000), was found in the Bosnian sample with a low frequency of 1.4%. A single haplotype belonging to haplogroup HV2, which is characterized by HVS I motif 16217 in combination with the site loss for 14766 MseI and 73G variant in HVS II, was revealed in Bosnians. Note that the latter haplogroup, designated previously as P, was described by Tambets et al. (2000). Both of these haplogroups appear to be typical for southern populations of West Eurasia, because pre-HV reaches its highest frequencies in the Near East, and HV2 extends from the West Mediterranean area to India (Tambets et al. 2000). It is noteworthy that the Bosnian HV2 sample is characterized by the nucleotide motif 16217-16243 found previously in Indians (Tambets et al. 2000).

    Haplogroup pre-V sequences, defined by the CR motif 16298-72 (Torroni et al. 2001), were found in Bosnians and Slovenians at relatively high frequencies (>6%). These samples were further identified as belonging to haplogroup V or paraphyletic group pre*V on the basis of RFLP analysis (Table 1). Those of the pre*V-samples defined by loss or gain of the 15904 MseI site were designated as pre*V1 and pre*V2, respectively. The present study showed that Bosnians and Slovenians possess pre*V1 cluster sequences at frequencies of 1.4% and 2.9%, respectively, comparable with those observed in the Mediterranean area (Torroni et al. 2001). Results of HVS II analysis showed that Bosnian and Slovenian V mtDNAs generally harboured the motif 72C-73A, with a single exception of 72T-73G found in the Bosnian sample. Meanwhile, the majority of pre*V1 HVS II sequences (4 out of 5) had the combination 72T-73A.

    Table 3 summarizes frequencies of the mtDNA haplogroups and subgroups found in Bosnians and Slovenians presented here, as well as in Polish and Russian samples studied previously (Malyarchuk et al. 2002). All of these samples are characterized by a similar pattern of mtDNA haplogroup distributions and comparison between populations did not reveal statistical differences (FST=0.0018, p = 0.899). However, taking into consideration the neighbouring Southern European populations, such as Albanians and Greeks (designated, according to Richards et al. (2000), as East Mediterraneans [EMT]), Bulgarians and Romanians (as South East Europeans [SEE]), and populations of Italy (designated as Central Mediterraneans [CMT]), it has been found that the populations compared produced a very low, but significant, differentiation level (FST= 0.0058, p = 0). AMOVA results suggest that the patterns of mtDNA diversity reflect some genetic differences between South European populations (Table 4). Significant differences (with a p value <0.01) were observed between populations of Italy and all Slavonic-speaking populations. In addition, significant FST values were revealed for Bosnians and East Mediterraneans. The Polish sample, representing the most northern population of Slavs, was found to be significantly different from East Mediterraneans as well as from South East Europeans.

    The main mitochondrial haplogroup of the Bosnian and Slovenian sequences is H, which is also the most frequent haplogroup in Europe (Richards et al. 2000). This haplogroup comprises the majority of the Bosnian (48%) and Slovenian (47%) samples. It is known that haplogroup H, according to the complete mtDNA coding region sequence, is characterized by a considerable branching substructure and forms at least four large subclusters (Finniläet al. 2001; Herrnstadt et al. 2002). Moreover, based on mtDNA CR sequence data in Europeans, a great number of clearly defined nucleotide motifs was found (Richards et al. 2000; Tambets et al. 2000; Finniläet al. 2001; Malyarchuk et al. 2002). Among them, several subclusters, such as 16362-239, 16293-16311-195, 16162-73, 16189-16356, 16304-16311, and 16294-16304 were found to be characteristic for Germans, Poles and Russians, therefore indicating the common genetic substratum for these Central and Eastern European populations (Malyarchuk et al. 2002). Table 5 shows examples of HVS I subclusters found in Bosnians and Slovenians, in comparison with several European populations. These subclusters are represented by mtDNA haplotypes, which differ by the fewest number of base substitutions.

    Importantly, almost all of the HVS I subclusters observed in Bosnians and Slovenians, (both or separately) can be accounted for in many European populations. Bosnians and Slovenians share, albeit at low frequency, an H-subcluster determined by HVS I motif 16221, which is also characteristic for other South European populations, with the highest frequency of 2% found in Albanians and Greeks (Richards et al. 2000). However, Bosnians and Slovenians show considerable differences in frequencies of subclusters 16162, 16189-16356, 16354 and 16362. Subcluster 16362, relatively frequent in European populations, was not found in Bosnians and vice versa - subcluster 16354, frequent in Central-Eastern European populations (especially in Russians), was not observed in Slovenians. Similarly, subcluster 16189-16356, which is present in all European populations analyzed, was not found in Slovenians. On the contrary, Slovenians have a high frequency (4.8%) of subcluster 16162, which is characteristic for Central and Eastern European populations (especially for Germans and Finns), but seems not to be typical for Southern Europeans, including Bosnians. However, the western neighbors of Slovenians, Veneto-speaking Italians from Barco and Posina, possess this H-subcluster at a high frequency of about 6% (Mogentale-Profizi et al. 2001). It should be noted, however, that Italian Veneti differ greatly from Slovenians by an increased frequency of the haplogroup TJ (35% on average; Mogentale-Profizi et al. 2001).

    The H-subcluster, determined by motif 16293-16311 that is characterized by a pan-European distribution (Richards & Macaulay, 2000), was found both in Bosnians and Slovenians. However, its Eastern European branch 16278-16293-16311, frequent in Russians and Finns, occurred only in Bosnians. The member of another branch, 16092-16293-16311, was observed only in Slovenians - this sequence type (16092-16140-16265-16293-16311) is identical to those characteristic for Poles (Malyarchuk et al. 2002). As sequence type belonging to subgroup 16304-16311, which is present in Russians, Poles and South Germans, was found in the Slovenian sample, whereas another rare H-branch defined by motif 16294-16304 was found in both Bosnians and Slovenians.

    It is well known that European populations contain a large number of closely related mtDNA lineages, and geographic patterns of mtDNA variations may exist at the level of individual lineages (Helgason et al. 2000; Richards et al. 2000). Therefore, analysis of the distribution of rare mtDNA lineages and their combinations in populations may be an informative tool for studying ethnic history. For example, H-haplotype 16223 revealed in the mtDNA pool of Slovenians is present in European populations being found in South Germans and Ukrainians (Lutz et al. 1998; Malyarchuk & Derenko, 2001). Rare H-haplotype 16263, found in Slovenians, has so far been observed only in Germans (Table 5) and in French-speaking populations (Rousselet & Mangin, 1998; Dimo-Simonin et al. 2000). Besides the H-sequences, there are also several geographically informative J- and U5-sequence types. Sequence type 16069-16126-16366 and its derivatives occurred at noticeable frequencies in Bosnians and Germans as well as in Poles and Russians. Another J*-subcluster, defined by HVS I motif 16069-16126-16261 (with J*-HVS II motif 185-22 , was found at low frequency both in Bosnians and Slovenians, but is present at surprisingly high frequency in Southern European populations, with a peak (>5%) in Greeks and Albanians (Richards et al. 2000). Similarly, the J*-HVS I sequence type 16069-16126 was found in more than 7% of Slovenians, as well as Albanians and Greeks. This frequency is 10 times higher than the corresponding value in Bosnians and essentially exceeds frequencies observed in different European populations, according to the database of Richards et al. (2000). Interestingly, this 16069-16126 HVS I sequence type, revealed in 8 out of 104 Slovenians, appears to be very diverse, being found in association with 7 different HVS II sequences. Since, in Europe, haplogroup J appears to have arrived from the Near East in the Neolithic period (Richards et al. 1998, 2000), the high levels of the root type 16069-16126 found in Slovenians possibly may represent a traces of the Neolithic migrations from the Near East.

    Distribution of other mtDNA lineages seems to reflect the historical contacts between populations of the Northwestern Balkans and Northern/Eastern Europe. The U5b1-lineage with motif 16144-16189-16270 occurs at a frequency of 1.4% in Bosnians, but it is well known that this U5-subcluster has a restricted Northern/Eastern European distribution, being found frequently (8%-52%) in Finns and Saami as well as rarely (0.5%-1.5%) in Slavonic (Russians and Poles) and Baltic (Lithuanians) populations (Sajantila et al. 1995; Orekhov et al. 1999; Meiniläet al. 2001; Kasperaviciute & Kucinskas, 2002; Malyarchuk et al. 2002). In addition, Bosnians are characterized by the presence of the Asian-specific haplogroup Z (0.7%), which was previously revealed in Europe in Saami, Finns and Russians (Sajantila et al. 1995; Delghandi et al. 1998; Orekhov et al. 1999; Malyarchuk & Derenko, 2001; Meiniläet al. 2001). In Slovenians, the U5a-lineage defined by the substitution 16114A was found at a relatively high frequency of 3.8%. To date, this lineage that has been found with a similarly high frequency only in Finns (Meiniläet al. 2001). In addition, Slovenians are characterized by the presence of another lineage frequently occurring in Finns - the U5b-haplotype 16192-16311 (Table 5).

    The mitochondrial gene pool of Bosnians has some peculiarities, clearly distinguishing this population from Slovenians. Among them, there is a high frequency of an H-sequence type that differs from the CRS-HVS I only at the position 16311. Although 11 Bosnians (7.6%) carry this HVS I sequence type (which is, nevertheless, characterized by 6 different HVS II sequences), it has, to date, been found with a similar frequency (6%) only in the Alpine region, according to the database of Richards et al. (2000). Another mtDNA haplotype frequent in Bosnians (2.8%) is a sequence type with CR motif 16189-153-204. The results of screening for this H-subgroup in published HVS I and II data sets from different European populations demonstrate that only one such haplotype has been found in the Austrian population (according to data of Parson et al. 199 . Meanwhile, H-16189 sequences are widespread in Europe, but almost all of them do not carry the specific nucleotide combination 153-204 in HVS II. For instance, 6.5% of Finns have HVS I sequence type 16093-16189 or simply 16189, but all of these sequences do not have any specific HVS II motifs (Finniläet al. 2001; Meiniläet al. 2001). However, one cannot exclude the possibility that the "Bosnian-specific" H-16189 subcluster is present in the Eastern Mediterranean region, as well as in Southeastern Europe (among Bulgarians and Romanians), since these populations are characterized by 4% of H-16189 sequences according to the HVS I database of Richards et al. (2000). Therefore, additional studies on HVS I and II variability are required to clarify this question. In addition, in Bosnians CR sequences have been found (at a frequency of 1.4%) belonging to haplogroup H and having HVS II motif 055-057, which is very rare in Europe, being previously observed only in Icelanders (Helgason et al. 2000). There is also a considerable difference between subcluster U5b sequences present in Bosnians and Slovenians, since all Bosnian U5b members (4.9%) are defined by the 16189-16270 motif, whereas in Slovenians, two out of three U5b-sequences belong to the specific branch determined by a possible back mutation from T to C at the U5-diagnostic position 16270 (Meiniläet al. 2001).

    In summary, this study reveals that the genetic pool of Bosnians has more similarities with other Southern European populations - the presence of typically South European mtDNA haplogroups, such as pre-HV, HV2 and U1 (Richards et al. 2000), and even one African-specific L1b sequence, which is observed, nevertheless, at low frequencies in Southern Italy (Rickards et al. 2000). Meanwhile, other examples presented here show that Bosnians and Slovenians possess interesting combinations of mtDNA subclusters and separate CR sequence types, characteristic mostly of Central and Eastern Europeans. This suggests that the common genetic substratum observed in modern German, Slavonic and western Finno-Ugric populations also penetrates also South East European populations, reaching territory as far as the Western Balkans. Meanwhile, genetic evidence concerning observed differentiation of Bosnians and Slovenians at the level of mtDNA subclusters may suggests that different groups of the Slavs penetrated the Balkans during their move to the south. According to archaeological data, the Slavs invaded the Balkan Peninsula as early as the 2nd century A.D., but after the 5th century A.D. large Slavonic movements came from two directions into the Balkans: from the east over the Carpathian Mountains and also from the north across Pannonia into the Western Balkans (Sedov, 1979; avli et al. 1996). The observed similarity between Bosnian and Russian/Finnish mtDNAs (such as U5b1, Z, H-16354, H-16278-16293-16311), and Slovenian and German/Polish/Finnish mtDNAs (such as H-16162, H-16263, U5b-16192-16311, U5a-16114A) allows us to speculate that the differences between the Slovenian and Bosnian mtDNA pools may have been partially due to the two different Slavonic migration waves that reached the Balkans in the early Middle Ages from different regions of Europe. It is noteworthy that Slavonic-speaking populations (Poles, Russians, Belorussians, Ukrainians, Czechs, Slovaks) are characterized by a high frequency (30%-50%) of Y chromosome haplogroups, defined by the M17 marker (Malaspina et al. 2000; Rosser et al. 2000; Semino et al. 2000). This haplogroup, R1a according to the Y Chromosome Consortium (2002), is rare in Western and Southern Europe, including Greeks (8%-21%), Albanians (10%-12%), Italians (2%-4%), but notably it is present in Slavonic-speaking populations of the Balkan Peninsula, being found at a relatively high frequency in Croats (29.3%), Slovenians (37.0%) and Macedonians (35.0%), with the possible exception of Bulgarians (12%) (Malaspina et al. 2000; Rosser et al. 2000; Semino et al. 2000). This high level of the haplogroup R1a in the majority of the Southern Slavs appears to be a good indicator of the genetic impact of the expanding Slavonic waves in past times. A more extended Y chromosome microsatellite analysis of R1a haplotypes in the Slavonic populations is currently underway, to clarify the complex pattern of population expansions in the Balkan area.”

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    Post Re: More info on Slavic mtDNA (for Dienekes)

    So, does this mean that there really were hordes of Slavs who entered Balkans?
    What about my montenegrins?

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    Post Re: More info on Slavic mtDNA (for Dienekes)

    I did not claim that the Slavs were similar to southern Europeans, only that the Slavs were of southern European origin originally. As your article itself says:

    "This suggests that the common genetic substratum observed in modern German, Slavonic and western Finno-Ugric populations also penetrates also South East European populations, reaching territory as far as the Western Balkans. "

    Indeed, there is a common substratum among Germans, Finno-Ugrics and Slavs. It is on this substratum that the incoming Indo-European element of southern European origin was added:
    The gene pools of all Slavonic ethnic groups
    show an appreciable similarity to the gene pools of
    South European ethnic groups and especially to the ethnic
    groups of the Balkan Peninsula. In addition, a substantial
    fraction of rare and unique mtDNA types found
    in the populations of Italy and Mediterranean islands
    have analogs in the gene pools of West and East Slavs.
    This testifies to a hypothesis that ancestors of modern
    Slavs originally diverged from South European populations
    to form an individual branch.


    ...

    Conclusion (4) that the Slavonic mitochondrial gene
    pool is similar to that of the Balkan populations is supported
    by linguistic data, as proto-Slavonic dialects are
    considered connected with the southeastern group of
    Indo-European dialects
    ([1], pp. 81-82).

    http://www.dienekes.com/blog/archives/000205.html
    The Slavs (including the southern ones) do indeed share mtDNA ancestry due to being descended from the common pre-IE substratum, however they also share mtDNA sequences of southern European origin, due to the fact that their linguistic ancestors originated in the South.

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    Post Re: More info on Slavic mtDNA (for Dienekes)

    Genetika. 2002 Nov;38(11):1532-8. Related Articles, Links


    [Mitochondrial DNA variation in Russian populations of Stavropol krai, Orel and Saratov oblasts]

    [Article in Russian]

    Maliarchuk BA, Derenko MV, Grzybowski T, Czarny J, Miscicka-Slivka D, Denisova GA, Kostiunina EA.

    Institute of Biological Problems of the North, Russian Academy of Sciences, Magadan, 685000 Russia.

    Mitochondrial DNA (mtDNA) polymorphism was examined in three Russian populations from the European part of Russia (Stavropol krai, Orel oblast, and Saratov oblast). This analysis showed that mitochondrial gene pool of Russians was represented by the mtDNA types belonging to haplogroups H, V, HV*, J, T, U, K, I, W, and X. A mongoloid admixture (1.5%) was revealed in the form of mtDNA types of macrohaplogroup M. Comparative analysis of the mtDNA haplogroup frequency distribution patterns in six Russian populations from the European part of Russia indicated the absence of substantial genetic differences between them. However, in Russian populations from the southern and central regions the frequency of haplogroup V (average frequency 8%) was higher than in the populations from more northern regions. Based on the data on mtDNA HVS1 sequence variation, it was shown that the diversity of haplogroup V in Russians (h = 0.72) corresponded to the highest h values observed in Europe. The reasons for genetic differentiation of the Russian population (historical, ecological, and adaptive) are discussed.

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