The History of Slavs Inferred from Complete Mitochondrial Ge

Any discussions regarding mt-DNA markers, results or questions.

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PostPosted: Thu Jan 17, 2013 7:06 pm
The History of Slavs Inferred from Complete Mitochondrial Genome Sequences

http://www.plosone.org/article/info%3Ad ... ne.0054360

Just as a reference point: Five of the authors are affiliated with Polish universities, and have Polish names. Three of the authors are affiliated with the Russian Academy of Science, although two of them have Ukrainian-looking surnames (I think).
Last edited by lgmayka on Thu Jan 17, 2013 7:40 pm, edited 1 time in total.

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PostPosted: Thu Jan 17, 2013 7:40 pm
Initial comments:

- The basic conclusion of the authors is that the region under study (Poland, Western Ukraine, and the Czech Republic) contains sufficient mtDNA diversity to rule out any near-complete "population replacement" from outside the region.

- The paper's Polish samples come only from the areas of Kashubia (northern Poland) and Podhale (southernmost Poland). Ukrainian samples come from near Lviv.

- The paper uses full mtDNA sequencing to elaborate some region-specific subclades of H5 and H6, such as H6c.

- Table 1, containing haplogroup frequencies, shows some differences between sampling areas:
- HV0* is much more common in Western Ukraine than in Poland or the Czech Republic
- H6 is allegedly almost absent from Poland, a result difficult to reconcile with the relative abundance of H6 in the Polish Project
- U5a is much more common in Podhale and Western Ukraine than in either Kashubia or the Czech Republic
- J1 is less common in Podhale and Western Ukraine than in either Kashubia or the Czech Republic
- T* (that is, TxT1xT2) is much more common in Kashubia than elsewhere.

Note that any interpretation of haplogroup frequencies in the Polish Project should examine the individual ancestries. The Project has many out-of-region mtDNA entries (due to mixed-parentage members) that I have not sufficiently filtered out (by suppressing their display on the mtDNA page).

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PostPosted: Fri Jan 18, 2013 1:46 am
lgmayka wrote:The basic conclusion of the authors is that the region under study (Poland, Western Ukraine, and the Czech Republic) contains sufficient mtDNA diversity to rule out any near-complete "population replacement" from outside the region.


Right, but it's not really about the diversity, because an empty area can, at least in theory, acquire lots of genetic diversity in a very short time due to migrations from other areas, or even one big migration from and area of very high genetic diversity.

These scenarios aren't really plausible if we're looking at Ukraine and Belarus as the source of the modern mtDNA gene pool in East Central Europe, because mtDNA diversity is clearly high in East Central Europe, and really unlikely to be a subset of East Slavic variation. But like I say, they're still possible in theory, if we assume that the original Slavic gene pool no longer exists in Ukraine, and that's basically what Jean is basing her arguments on.

However, what this paper shows is that some mtDNA lineages typical of Slavs are rooted phylogeographically in Southern and Central Europe, with Eastern Europe being their last stop on a journey from Southern Europe via Central Europe during the Mesolithic, Neolithic and metal ages.

It's these phylogeographic networks and inferred migration routes using full mtDNA sequences that back up their claims, and those of recent anthropological studies they referenced, and make the theory of a massive migration from Ukraine to Poland (and thus a total population replacement in Poland) after 500AD a total dud.

We can throw in the relatively high mtDNA diversity in East Central Europe as the icing on the cake.
Last edited by Tomatoes on Sat Jan 19, 2013 8:12 am, edited 1 time in total.
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PostPosted: Fri Jan 18, 2013 6:19 pm
Tomatoes wrote:
lgmayka wrote:The basic conclusion of the authors is that the region under study (Poland, Western Ukraine, and the Czech Republic) contains sufficient mtDNA diversity to rule out any near-complete "population replacement" from outside the region.


Right, but it's not really about the diversity, because an empty area can, at least in theory, acquire lots of genetic diversity in a very short time due to migrations from other areas, or even one big migration from and area of very high genetic diversity.


what year date is this "empty area" you state?

These scenarios aren't really plausible if we're looking at Ukraine and Belarus as the source of modern mtDNA gene pool in East Central Europe, because mtDNA diversity is clearly high in East Central Europe, and really unlikely to be a subset of East Slavic variation. But like I say, they're still possible in theory, if we assume that the original Slavic gene pool no longer exists in Ukraine, and that's basically what Jean is basing her arguments on.

However, what this paper shows is that some mtDNA lineages typical of Slavs are rooted phylogeographically in Southern and Central Europe, with Eastern Europe being their last stop on a journey from Southern Europe via Central Europe during the Mesolithic, Neolithic and metal ages.
[/quote]

which lineages where created in central europe ...........?
Fathers mtdna - T2b17 ...back to 1860 Bucciol line
Grandfathers mtdna - T1a1e ...back to 1820 Mestriner line
Sons Mtdna - K1a4 ....back to 1840 Tesser line
Maternal grandfather ydna - Ild-P109

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PostPosted: Sat Jan 19, 2013 3:59 am
Just a tidbit. Some of that Slavic core area was once part of the Austro-Hungary Empire. Liv (Lemberg, Lvov) is an example. Core Austrians (German-speaking) were functionaries out there in the far-flung reaches of empire. My ex German wife's father's father (I think it was) was working for the railroad, and was stationed in Liv (Lemberg, Lvov), which is now in the Ukraine. It goes to show the possible DNA transfer from west to east, at least among males.
:lol:
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PostPosted: Sat Jan 19, 2013 5:49 am
stoeni wrote:which lineages where created in central europe ...........?


Did you actually read the study and check the references used, or what?

Full sequencing of H5 and U5 lineages show that these haplogroups expanded from Southern Europe into Central Europe, and finally into Eastern Europe.

The Peopling of Europe from the Mitochondrial Haplogroup U5 Perspective

http://www.plosone.org/article/info:doi ... ne.0010285

PDHOTLEN wrote:Just a tidbit. Some of that Slavic core area was once part of the Austro-Hungary Empire. Liv (Lemberg, Lvov) is an example. Core Austrians (German-speaking) were functionaries out there in the far-flung reaches of empire. My ex German wife's father's father (I think it was) was working for the railroad, and was stationed in Liv (Lemberg, Lvov), which is now in the Ukraine. It goes to show the possible DNA transfer from west to east, at least among males.


Right, but it's extremely unlikely that this guy introduced an Austrian mtDNA lineage into the Slavic core area, which has since mutated into a typically Slavic subclade, eh?

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PostPosted: Sat Jan 19, 2013 10:16 pm
Tomatoes wrote:Full sequencing of H5 and U5 lineages show that these haplogroups expanded from Southern Europe into Central Europe, and finally into Eastern Europe.


Where exactly do they show this? The authors seem to have a very static, non-migrationist view of current haplogroup distributions. We cannot automatically assume that a specific subclade has always lived in the area where it is currently found. Quoting from the paper:

The founding node of H5 haplogroup is represented by one Italian individual and one sample of unknown ethnic origin. The H5 haplogroup shows a coalescence time of about 11.5–16.5 ky, depending on the mutational rate values. It is worth noting that the oldest subbranches within this haplogroup are H5a3, H5a4 and H5e, which are dated to 9.5–17, 16–21.5 and 11–18 ky, respectively (Figure S1), are mainly represented by the samples from southern Europe (Italy). This picture implies
formation of haplogroup H5 during pre-Neolithic times, at the end of last glacial period in the areas of southern Europe.


If the oldest branches of H5 have their greatest diversity in Italy, this will support the theory that H5 had a post-glacial origin in Italy, although I'd like to see more than a single H5* sample from Italy. There is also a possibibilty that a diverse population of H5 migrated from early farming communities in the Near East to southern Europe. And it's also possible that Celtic, Germanic, Italic and Slavic populations all have similar mtDNA haplogroup distributions because they all descend primarily from early farmers who expanded into Europe. I'm not saying I disagree with their conclusions - but I like to see a more comprehensive analysis of current distributions and diversity of H5.

Gail

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PostPosted: Sun Jan 20, 2013 12:22 am
Following up on my previous post, I looked at H5* samples in GenBank, and there are 38 samples representing 32 distinct lineages. The geographic distribution includes:

Armenian, Iranian, Druze, Jewish, Tatar-Crimean, Jordan, Lithuania, Croatia, Poland, Basque, 3 Germans, 2 France, and 11 Italians.

Nine of the Italians are from studies in Italy of cancer patients. I didn't look at the selection criteria, and obviously these are not random population samples. But I find it striking that there are no samples from Ireland, the UK or Scandinavia. This does not look like the distribution you would expect for a post-glacial southern European population that expanded into Europe as the ice sheets retreated. It looks much more Mediterranean. The most likely explanation would be a Neolithic or more recent population expansion from the Middle East.

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PostPosted: Sun Jan 20, 2013 9:04 am
GailT wrote:The authors seem to have a very static, non-migrationist view of current haplogroup distributions. We cannot automatically assume that a specific subclade has always lived in the area where it is currently found.


The phylogeographic networks inferred from the full sequences are what counts. Once these spread out across Europe, taking several thousand years to do so, they're more or less rooted at various points, so it's possible to infer migration routes of the markers in question, and even spot back migrations.

So yes, it's possible that some of these markers moved around and their current distribution isn't a reflection of their past distributions. A lot is possible, but what isn't possible is that the entire phylogeographic networks of H5 and U5 have shifted or got messed up completely during historic times, so that their inferred migration routes are off.

The age estimates aren't really important. As you say, H5 might well be Neolithic. But that doesn't change anything about the phyolgeography of this marker, or of U5, which in both cases is obviously Southern Europe > Central Europe > Eastern Europe.

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PostPosted: Sun Jan 20, 2013 3:37 pm
Tomatoes wrote:
GailT wrote:So yes, it's possible that some of these markers moved around and their current distribution isn't a reflection of their past distributions. A lot is possible, but what isn't possible is that the entire phylogeographic networks of H5 and U5 have shifted or got messed up completely during historic times, so that their inferred migration routes are off.

The age estimates aren't really important. As you say, H5 might well be Neolithic. But that doesn't change anything about the phyolgeography of this marker, or of U5, which in both cases is obviously Southern Europe > Central Europe > Eastern Europe.


I agree with your point about phylogeographic networks and I believe you can make a strong argument for this interpretation of U5 - we have very old branches of U5 with great diversity concentrated in certain regions. This suggests that those branches originated in those regions (for example, U5b1 has a strong signal of an Iberian origin), and we have subclades of those brances that appear to radiate out from those regions. Importanly, we also have mtDNA from ancient remains that are consistent with and support this phyolgeographic interpretation.

But there is nothing in the data in GenBank or in this paper that supports the authors interpretation of H5. In fact, the Phylogeoraphic network analysis for H5 could indicate a Near East origin for H5, and the star pattern and age estimates indicate a population that expanded rapidly in the Neolithic. The authors state there are only two samples of H5* one with an origin in Italy and the other of unknown origin. It took me a few hours of looking at GenBank data to see that are in fact 38 H5* samples, and that many of them have origins in the Middle East. H5* does have a large number of samples in Italy, but that might be sample bias resulting from cancer and Alzheimer studies of H5 conducted in Italy with large number of H5 FMS samples in those studies. It would be helpful to sample an equally large number of H5 samples from the Near East to see if similar H5* diversity exists there.

I'm looking at H6 in GenBank now, it will be interesting to see how it compares with their interpretation.
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