More evidence of genetic discontinuity between Neolithic and modern Europeans

Maciamo

Veteran member
Admin
Messages
9,949
Reaction score
3,229
Points
113
Location
Lothier
Ethnic group
Italo-celto-germanic
Here is more ancient DNA from the Danubian Neolithic. The remains come from the Great Hungarian Plain and date from circa 6000 BCE, so approximately 500 years before the Linear Pottery Culture (LBK). They are therefore the oldest Neolithic DNA from Europe so far, and the second from Hungary (Haak et al. 2005 found a single N1a1b sample). This time they were able to test 23 samples and identify five haplogroups. All of them are extremely rare in Europe today : N9a, N1a, C5, D1/G1a and M/R24.

This is an astonishing array of haplogroups to say the least. Although N1a has popped up frequently in Neolithic sites from Western and central Europe before, and is still common in the Caucasus nowadays, the others are typical of various regions Asia and not normally found in the same population.

- N9a has a very wide range. It is found all the way from East Asian (including China, Japan, Vietnam, Thailand and Malaysia) to Eastern Europe, via Central Asia.

- C5 is more typical of Northern and Central Asia, but is also found at very low frequencies in Eastern and Central Europe.

- D1/G1 : G1 and D1 are both typical of Siberia and Northeast Asia.

- R24 is normally found in the Philippines (never heard of other places), so it's probably a mistake.

I cannot see how any of these haplogroups besides N1a could be of Near Eastern origin. It's more likely that a group of Siberian or Central Asian Palaeolithic nomads reached Hungary and were absorbed by the West Asian herders/farmers who had barely arrived in the region.

Unfortunately the abstract doesn't say how many individuals of each haplogroup there were. I suppose that N1a was in higher proportion than the rest.
 
I observed N1a in at least one Scandinavian at 23andme, and I also have a distant cousin who belongs to this haplogroup. I think he was Angloamerican or something like this. It's obviously rare today, but perhaps not extremely rare.

I think most European N9a's are actually Ashkenazi Jews. Possible quite of them come from Eastern Europe.
 
Wow, these are some unexpected haplogroups. I would have guessed U5, but there's no U5 (or U4 or H...) in sight. I suspect that we're going to continue to find that most European populations throughout history have had diverse arrays of mtDNA haplogroups, which signals that mtDNA haplogroups make poor correlations with historical movements of people. That's an assumption I've been operating under for some time already.
 
Wow, these are some unexpected haplogroups. I would have guessed U5, but there's no U5 (or U4 or H...) in sight. I suspect that we're going to continue to find that most European populations throughout history have had diverse arrays of mtDNA haplogroups, which signals that mtDNA haplogroups make poor correlations with historical movements of people. That's an assumption I've been operating under for some time already.

I am not so sure. I think we are dealing with an exceptional case here. Dozens of Paleolithic or Mesolithic sites throughout Europe were tested for mtDNA and were constantly H, U, U4 or U5. The Hungarian Plain is an unusual place within Europe. It is really an extension of the Eurasian Steppes. 8000 years ago, most humans on earth were nomadic or semi-nomadic hunter-gatherers, usually roaming inside an environment with which they were familiar. I don't see why Siberian or Central Asian people wouldn't have migrated occasionally to the steppes of Eastern Europe, and exceptionally as far as Hungary. After all that is what the Indo-Europeans did 4000 years later. What's more, the Caspian Sea might not have been formed yet 8,000 years ago. Nobody knows for sure, but according the the Deluge theory, the ice caps over the Urals melted away and flooded what is now the Caspian Sea and the Black Sea only 7600 years ago. If this is roughly correct it means that Central Asia was directly connected to Ukraine and Romania at the time (and Siberia was even less inhabited than in the Bronze Age). This could explain why Central/North Asian people were found as far west as Hungary. Naturally all this would have changed once the Caspian Sea and the Urals joined to form a barrier in the middle of Eurasia.
 
These mt dna results are indeed unusual for Europe today, but in general terms, as the title of the thread itself indicates, this is just the latest in a line of scholarly articles showing the discontinuity between modern populations and ancient ones. Paleolithic mt dna seems to be quite different from Neolithic mtdna, which is again different from modern mt dna. The same was found to be true for Etruscan and modern Tuscan populations as the overall distributions were very different. (although there was continuity between early medieval results and modern Tuscan results).

The extinction rate for mtdna is high (see Oetzi's results for example) and certain lineages can, even in a very short time, become highly under or over represented, as this study done on Icelandic mt dna makes clear, and this is true even absent any significant migration.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1180299/pdf/AJHGv72p1370.pdf

The same is true for y-dna, although perhaps not to as great an extent. One member of the amateur community recently did a mathematical analysis to illustrate just that.

A population of 1000 males undergoes 4 percent per generation growth for past 150 generations, resulting in 370,000 males today. With sufficient dna tags (STRs, SNPs, etc) one could imagine each of those 1000 original males representing a distinctive genetic y line.

What do we see today among those 370,000 descendants in the way of distinct original lines? 87 percent of those 1000 lines went extinct; they are gone from today’s population. The most populous represented original line accounts for 4.4 percent of today’s population. The 10 most populous lines represented today account for 24.1 percent of the 370,000. And the 20 most populous lines represent 40.6 percent of the 370,000.

The above results indicate the very strong creation of demographic “winners” and “losers” of y lines based solely on statistical flucuations --- before any other factors are brought into consideration. This source of demographic winners versus losers must be understood before speculations about connnections of populous y haplogroups today to migrating, militarily advanced, technically advanced, culturally advanced......... etc. tribes of the distant past can be even tried intelligently.

I couldn't agree more.
 
These mt dna results are indeed unusual for Europe today, but in general terms, as the title of the thread itself indicates, this is just the latest in a line of scholarly articles showing the discontinuity between modern populations and ancient ones. Paleolithic mt dna seems to be quite different from Neolithic mtdna, which is again different from modern mt dna.
...

Actually, most of the Paleolithic mtDNA recovered in Europe is still quite common today (U4, U5 and various H subclades). It is really the Neolithic mtDNA, especially the one from the Danube basin, that contrasts sharply with the modern European population.

As for the extinction rate, all these lineages still exist, but mostly in Asia. Ötzi's mtDNA is an exception.
 
I don't think is enough evidence for a genetic discontinuity. Could have been a immigrant community, like today we have immigrants in Europe, or could have been a group of brought slaves, who knows. But sample is too small to extrapolate to the entire population
 
Unfortunately the abstract doesn't say how many individuals of each haplogroup there were. I suppose that N1a was in higher proportion than the rest.

I take it you didn't accesss the full article? I couldn't since my University library will have to wait some days for the September issue. I'm just wondering if they also identified the remains' gender.
 
Actually, most of the Paleolithic mtDNA recovered in Europe is still quite common today (U4, U5 and various H subclades). It is really the Neolithic mtDNA, especially the one from the Danube basin, that contrasts sharply with the modern European population.

As for the extinction rate, all these lineages still exist, but mostly in Asia. Ötzi's mtDNA is an exception.

More vast generalizations with no supporting data.

There is no way that you could possibly know that the exact mtDNA lineages of all the adna remains found (all those U4's and U5's for example), still exist, because we don't have the exact lineages for most of them.

Otzi is mtDNA K. Obviously there are many K lineages that still exist today. However, thanks to the preservation of Otzi's remains, detailed tests could be done, and the result is that for now his specific lineage appears to be extinct.

Of course, neither is it proven, for now, that those adna lineages are, indeed, extinct. What we do know, however, based on actual research, is that certain lineages, at least in certain areas, do indeed go extinct, some predominate, and others become minor lineages. Also, for now, the process appears to be random. (Did you bother to read the paper?) We also know, from mathematical modeling, that this should not be a surprise.

Without a much better understanding of the statistical fluctuations, the actual mutational processes involved, what role, if any, selection plays etc. etc., all these speculations of this or that superior tribe moving to x or y area, are just fairy tales, and usually fairy tales based on some jingoistic or racist agenda. This whole hobby is really getting to be a waste of time.
 
One can hypothesize, as long as it is clear that's all it is. Maciamo's theory of IE expansion is just one of many different possibilities. It's full of holes of course, but so is everything else :)=))) At least he's willing to accept (in some posts) the fact that the original IE's were already quite a mixed lot, not really a "race". What else could one expect anyway ca 4,000 BCE?== Genetics is still in its infancy, I fear, but hardly a waste of time. It's quite fascinating for me (I'm a specialist in other areas, not genetics) to see how the debate about dating SNP mutations etc..rages on. Just this year, you get serious articles about how the Renfrew IE expansion thesis is about to get confirmed after all, with lowerings of haplogroup initiation dates into the Neolithic, and equally serious articles demonstrating that the methodology is faulty and the beginnings much earlier, though perhaps not as deeply ancient as previously thought... Never a dull moment>
 
Angela, I agree with razor. Vast community here loves looking for answers, loves the journey, I would say. Even though it is hard to find a definitive answers, and lot of research has to be done, we stick around here batting our heads, and argue about our hypotheses. I guess it is a real fun for us. At the end the dust will settle and will know how our ancestors moved around, who killed who and who won. At this time the fun will be over and only learning of fairly settled facts will remain for next generation.
So let's enjoy while we can, the hypotheses, the arguing, the guessing, the wait for results, changing our minds, batting heads again, you name it...
I know you are a different animal Angela in this regard. You want definitive truths and it's commanding. At the end we all want them too. Just don't spoil our fun in mean time too much. :)
 
Without a much better understanding of the statistical fluctuations, the actual mutational processes involved, what role, if any, selection plays etc. etc., all these speculations of this or that superior tribe moving to x or y area, are just fairy tales, and usually fairy tales based on some jingoistic or racist agenda. This whole hobby is really getting to be a waste of time.

You are getting at some very important points, and I encourage others to remember how imprecise things like Y-STR and geographic diversity analysis still are. But the knowledge of statistical fluctuations is out there already, as you point out yourself. Genetic drift, variable mutation rates, and strictly-genetic selection often do come up in hobbyist discussions. And if we're all wasting our time when we speculate, how were we able to predict Ötzi's Y-DNA haplogroup? We thought about the data we had, speculated, and more than half came up with the right answer. Obviously we need to keep everything you mention in mind and assume that things like date calculations still have large error bars. But just as obviously, genetic anthropology has already taught us a lot that we didn't know before. I suppose we just need to be more precise about what the possibility ranges are, instead of looking for single answers.

Who do you think is being "jingoistic or racist" anyway? Are you bothered by some of the Latin American/Iberian or Greek/Macedonian or etc. disputes that tend to pop up? Or is that directly targeted at something in this thread?

More on topic... the general feeling is that there is greater diversity of Paleolithic-origin mtDNA and autosomal DNA than Paleolithic Y-DNA in modern Europeans, which seems to contradict the statistical analysis you noted. But I think that the only one that we can be quite sure of is Y-DNA, where it's fairly clear that only one surviving haplogroup has been in Europe so long. Questions like how much mtDNA H in Europe is Paleolithic is an important question to explore, and I still don't feel certain about it. And how much autosomal DNA is Paleolithic we're even farther from knowing.
 
More vast generalizations with no supporting data.

There is no way that you could possibly know that the exact mtDNA lineages of all the adna remains found (all those U4's and U5's for example), still exist, because we don't have the exact lineages for most of them.

There is no need to know the exact lineages. It's enough to know that if various Paleolithic, Neolithic, Bronze Age and Iron Age sites throughout northern Europe constantly yielded U4 and U5 lineages, while these were never found in the Middle East, the probabilities that modern U4 and U5 lineages descend from Paleolithic northern Europeans are extremely high compared to any other region. Testing the whole mtDNA sequence is useless because :

1) Mutations in mtDNA can occur at any birth. Actually mtDNA is very fickle, and private mutations often occurs within a same individual, so that different cells coming from the same person will not necessarily have the exact same mutations (I have a family member who got 5 different mutations by testing with different companies, although the haplogroup and subclade was always the same). One or two unique private mutations do no mean anything.

2) In several millennia some many mutations should have taken place that it would be dazzling to find lineages that had not evolved at all since then.

3) We can only test a tiny fraction of any ancient population from any period in a given region, due to the scarcity of remains. Since not every individual procreated. Some died from diseases, were killed or just didn't have a chance to have children who reached sexual maturity and procreate too. There is a high chance that a person who lived 8000 years ago didn't pass on her mtDNA to the modern population are quite high. But that doesn't mean that the source population isn't the same ! The important is to be able to determine where and when a lineage originated.


Otzi is mtDNA K. Obviously there are many K lineages that still exist today. However, thanks to the preservation of Otzi's remains, detailed tests could be done, and the result is that for now his specific lineage appears to be extinct.

Actually it is too soon to tell if Ötzi's mtDNA is still present in the modern population or not, because not enough people were tested for the whole mtDNA sequence, especially around the Alps and in the Middle East. Anyway, Ötzi being a man, he couldn't have passed his mtDNA. How do we know that some (distant) female cousins had the mutations that made him K1ö ? It doesn't rule out that modern K1 Europeans descend from the same Central European Neolithic/Chalcolithic culture which Ötzi belonged to.

Of course, neither is it proven, for now, that those adna lineages are, indeed, extinct. What we do know, however, based on actual research, is that certain lineages, at least in certain areas, do indeed go extinct, some predominate, and others become minor lineages. Also, for now, the process appears to be random. (Did you bother to read the paper?) We also know, from mathematical modeling, that this should not be a surprise.

Without a much better understanding of the statistical fluctuations, the actual mutational processes involved, what role, if any, selection plays etc. etc., all these speculations of this or that superior tribe moving to x or y area, are just fairy tales, and usually fairy tales based on some jingoistic or racist agenda. This whole hobby is really getting to be a waste of time.

Mathematical models and statistical analysis may work well for theoretical phenomenons, or even physical and chemical ones, but they are not suited to the study of human history. There are many reasons for that.

1) Y-DNA and mtDNA lineages can prosper or go extinct simply for evolutionary reasons. MtDNA especially seems to be linked to adaptation to the environment (climate, diseases). People move and climate changes. This cannot be predicted by mathematics.

2) Whole local lineages are sometimes wiped out by wars, famines or diseases. This also cannot be predicted by mathematics.

3) mathematics do not take into consideration the variations in population sizes over the ages (it could, but we simply do not have the data). Large populations will naturally develop more new mutations. This is the single biggest problem encountered by mathematicians who tried to calculate the age of haplogroups based on the number of mutations (such as STR variances).

The evolution of human society is so complex and linked to so many external factors that trying to understand it through mathematics is futile. It would be like trying to understand economics with the help of chemical laws.


The important is always to look at the bigger picture and keep one's common sense. Most of the Neolithic studies from the Danubian region have yielded mtDNA and Y-DNA haplogroups that are now rare in the European population. This, I think, is enough to say that there is a strong discontinuity of lineages between the Neolithic period and now in that particular region. Just to be clear, 'discontinuity' here doesn't mean that modern people do not descend at all from Neolithic people. It means that only a (small) minority of their genes (at least based on mtDNA and Y-DNA) were inherited from them.
 
Granted there is the possibility, even the likelihood, that the ancient samples that we have are not representative of the actual composition. But, regardless of that, what I wonder on is this: is it conceivable in any way that the Neolithic farmers had a smaller overall impact on the mitochondrial makeup in Europe than the Paleolithic/Mesolithic population?
 
Granted there is the possibility, even the likelihood, that the ancient samples that we have are not representative of the actual composition. But, regardless of that, what I wonder on is this: is it conceivable in any way that the Neolithic farmers had a smaller overall impact on the mitochondrial makeup in Europe than the Paleolithic/Mesolithic population?

It depends where in Europe. From what we have seen so far, the mtDNA of Paleolithic/Mesolithic population correlates much better with the modern population than Neolithic mtDNA. Angela may say that ancient U4 and U5 might not be identical to modern U4 and U5, but that's irrelevant. A N1a or X2 lineage can never turn into a U5. A U5* can evolve into a U5a or U5b. And even if the U5 tested were side branches that are now extinct, it only means that the modern U5 descend from European cousins, not from the exact skeleton tested.
 
It depends where in Europe. From what we have seen so far, the mtDNA of Paleolithic/Mesolithic population correlates much better with the modern population than Neolithic mtDNA. Angela may say that ancient U4 and U5 might not be identical to modern U4 and U5, but that's irrelevant. A N1a or X2 lineage can never turn into a U5. A U5* can evolve into a U5a or U5b. And even if the U5 tested were side branches that are now extinct, it only means that the modern U5 descend from European cousins, not from the exact skeleton tested.

Well, I would think that especially in northern areas, the pre-Neolithic population would have survived longer and more abundantly, but I do not think that this explains the whole story. I also absolutely agree that finding not exactly the same lineages isn't that important. A typical example of where we actually can expect to eventually find extinct side branches is in regard for the Y-Haplogroup (pre-)I1.
 
Well, I would think that especially in northern areas, the pre-Neolithic population would have survived longer and more abundantly, but I do not think that this explains the whole story. I also absolutely agree that finding not exactly the same lineages isn't that important. A typical example of where we actually can expect to eventually find extinct side branches is in regard for the Y-Haplogroup (pre-)I1.

For Y-DNA, of course. But the evolution of Y-DNA haplogroups is much more linear than for mtDNA, because male lineages got "pruned" more often through wars or men having children with more than one woman at the expense of other men. That's why the Y-DNA tree is much more vertical than the mitochondrial tree, and Y-haplogroups typically a whole series of new mutations, not just one.

Whats' more, "bad mutations" on a Y-chromosome can lead to sterility, which automatically eliminates it from the gene pool. Good mutations can, on the contrary, increase fertility but also testosterone levels, which makes men more competitive and more dominant (hence easier access to females for reproduction).

Another factor is that the mitochondrial sequence is so tiny (16,600 bases) compared to a Y-chromosome (60 millions bases), and each mutation is more likely to have an evolutionary effect (while the bunch of y-DNA mutations are junk DNA with no bearing on fitness). That may be why the mtDNA tree grows faster too.
 
I agree on all acounts, Maciamo. What I do wonder though is this: is it possible for mitochondrial Haplogroups to "son out" just like it's possible for Y-Haplogroups to "daughter out"?
 
Not sure if it's what you are asking for?
Son, man can never give mitochondrial DNA to his kids, therefore it stops there. That's the part of DNA called Maternal, mtDNA. Not the X chromosome.
 

This thread has been viewed 35160 times.

Back
Top