The Genetic History of Northern Europe - Another Begemoth DNA study on Baltics

It sounds like population replacement rather than natural selection "in situ" (among previous inhabitants).

In other words: a light-skinned, lactose-tolerant population invaded, replacing Neolithic/Mesolithic groups.

But some mixing with previous inhabitants also took place.

Baltic BA is basically a mixture of Corded Ware, Narva, and some MN stuff to. It's a local Eastern Baltic development or at least has a lot of earlier Eastern Baltic ancestry. If a Bronze age lactose persistant population replaced earlier Eastern Baltic people then they replaced the earlier populations in most of Europe; Britain, Ireland, Scandinavia, Poland, and so on. A lactose persistent population migrating everywhere in Europe(and SC Asia) can't explain the high frequencies in modern Europe and SC Asia.

I think the same is true for light skin. No earlier Mesolithic or Neolithic population can explain Baltic BA's or Andronovo's high frequency of light skin mutations. Only natural selection can explain it and can explain high frequencies all over Europe today.

And finally I think the same is true for mHG H to some extent. Is it a coincidence Iron age Spain, Poland, Scandinavia and Bronze age Eastern Baltic had 40%+ H? Was there a race of mHG H women moving everywhere in Europe during the Bronze age? Probably not.
 
You're naively assuming that autosomally similar populations cannot replace one another. Expansions from relatively insignificant fringe populations due to a relatively more adapted phenotype would hardly even show up in the autosomes. Something like this is also what the Y-DNA distributions - especially in Western Europe - would suggest.

The idea that mtDNA H, light pigmentation and lactase persistence became so prevalent in Europe across the board due to in situ 'natural selection' is frankly insane. This would only be feasible if Europeans had been teetering on the verge of extinction, perhaps.

EDIT: I see Tomenable already made that exact same point.
 
The idea that mtDNA H, light pigmentation and lactase persistence became so prevalent in Europe across the board due to in situ 'natural selection' is frankly insane.

It isn't insane, it's hard to believe. There's a lot of facts which are hard to believe. A 75%+ of mtDNA replacement in every part of Europe by a mHG H rich population which had little or no impact on Y DNA isn't possible. I did the math in this post at my blog; Natural Selection Did it!!.

Also about skin color and lactose persistence, there shouldn't be any doubt natural selection played a role in their rise in frequency. 0% of preBronze age Europeans have the lactose persistent mutation. The chances that there was a population with a frequency of 100% hiding somewhere is low. If there was such a population, then Pashuten and Irish would trace something like 70% of their ancestry to the same recent ancestor.

You're naively assuming that autosomally similar populations cannot replace one another. Expansions from relatively insignificant fringe populations due to a relatively more adapted phenotype would hardly even show up in the autosomes.

Either there were Lactose persistent+light skinned+H rich fringe population in almost every part of Europe which replaced everyone else in Europe during the Bronze age or there was in situ natural selection. Of course migration plays a role but natural selection does as well.
 
Try to explain this without natural selection....

Yamnaya light eye frequency: 9%
Andronovo, Sintashta, Srubnaya light eye frequency: 54%

Yamnaya light skin mutation frequency: 17%
EEF light skin mutation frequency: 15-20%
Andronovo, Sintashta, Srubnaya light skin frequency: 75%
Modern Europeans: 80-100%

Lactose persistance mutation.
All Europeans before the Bronze age: 0%
LNBA Northern Europe: 15%
BA/IA Northern Europe(Britain, Poland, Baltic): 50%

Who would say natural selection didn't play a role when looking at those numbers...
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exogamy was the rule in mesolithic times, and probably already long before
in CWC increased mobility was added to that
and I think chiefs got many women as a 'gift' which would have enhanched mtDNA diversity in the upper classes
Just curiosity, that is why HG/Nomad were smarter, isn't it?
 
It isn't insane, it's hard to believe. There's a lot of facts which are hard to believe. A 75%+ of mtDNA replacement in every part of Europe by a mHG H rich population which had little or no impact on Y DNA isn't possible. I did the math in this post at my blog; Natural Selection Did it!!.

I'm sorry, but I see neither math nor any attempt at an explanation for the supposed darwinian selection on mtDNA H in that post. To clarify, would you say the predominance of paternal haplogroups R-S116/R-U106 in Western Europe is a result of natural selection as well?

Also about skin color and lactose persistence, there shouldn't be any doubt natural selection played a role in their rise in frequency. 0% of preBronze age Europeans have the lactose persistent mutation. The chances that there was a population with a frequency of 100% hiding somewhere is low. If there was such a population, then Pashuten and Irish would trace something like 70% of their ancestry to the same recent ancestor.

SNPs associated with lactase persistence are spread far and wide in Asia, so I don't really see what Pashtuns have to do with the Irish.
 
Try to explain this without natural selection....

Yamnaya light eye frequency: 9%
Andronovo, Sintashta, Srubnaya light eye frequency: 54%

Yamnaya light skin mutation frequency: 17%
EEF light skin mutation frequency: 15-20%
Andronovo, Sintashta, Srubnaya light skin frequency: 75%
Modern Europeans: 80-100%

Lactose persistance mutation.
All Europeans before the Bronze age: 0%
LNBA Northern Europe: 15%
BA/IA Northern Europe(Britain, Poland, Baltic): 50%

Who would say natural selection didn't play a role when looking at those numbers...

You're assuming that (i) those populations were unified entities and directly ancestral to each other and (ii) that the latter populations derive their ancestry from a sort of median of the former. I think both of those assumption are likely to be erroneous.
 
SNPs associated with lactase persistence are spread far and wide in Asia, so I don't really see what Pashtuns have to do with the Irish.

Pashutuns have the same lactose persistence mutation as Europeans. When the same mutation is frequent in distantly related population the argument natural selection didn't *help* create high frequencies looks less and less likely.
 
However, there is a extremely differentiated lineage: H11a. who could has something to do with these traces of domestication.

I agree with you there. After a couple of generations you might not be able to detect it autosomally in an ancient sample. In that case a source in the Balkans might make sense.
 
You're assuming that (i) those populations were unified entities and directly ancestral to each other and (ii) that the latter populations derive their ancestry from a sort of median of the former. I think both of those assumption are likely to be erroneous.

I'm not making "assumptions" I'm making reasonable conclusions based on reliable data. I'm making the reasonable conclusion that Andronvo and modern Europeans do descend from swarthy and lactose intolerant Chalcolithic peoples. It's reasonable because we have pigmentation SNP data from all over the Chalcolithic Steppe and Neolithic Europe. They were all the same. Dark skin, brown eyes, and lactose intorlent. There is no documentation of an ultra pale and lactose tolerant population hiding anywhere in pre-Bronze age Europe.

Do you understand that if natural selection played no role then; There were ultra pale lactose tolerant EEF populations and ultra pale lactose tolerant WHG populations and ultra pale lactose tolerant Steppe populations. It couldn't have been one or the other because modern Europeans have huge chunks of ancestry from each group. That despite all the data showing dark skin, brown eyes, and lactose intolerance there were light skinned, blue eyed, lactose tolerant people all over Europe who are the real ancestors of modern Europeans. That's crazy.
 
You're naively assuming that autosomally similar populations cannot replace one another. Expansions from relatively insignificant fringe populations due to a relatively more adapted phenotype would hardly even show up in the autosomes.

This argument falls apart when autosomally dissimilar populations share similar allele frequencies in certain SNPs. Italians and Lithaunains have the same frequency of light skin mutations. They're about as different as two Europeans can get. Many SC Asians have the same frequency of the "European" Lactose persistence mutation as Lithuanian. What the heck else could explain this except natural selection?
 
MtDna has a very profound impact on "fitness" and "health", so much so that there was a concern that in places like the U.S. where pre-existing conditions or hereditary traits could make acquiring health insurance difficult, people should be wary of making their complete mtDna genome public.

This 2015 paper provides a good summary of the mitochondria and its role in these matters

See:
https://academic.oup.com/humupd/art...tionary-defined-role-of-the-mitochondrial-DNA

"mitochondrial evolutionary mechanisms have had a profound effect on human adaptation, fertility, healthy reproduction, mtDNA disease manifestation and transmission and ageing. An understanding of these mechanisms might elucidate novel approaches for treatment and prevention of mtDNA disease."

I hate the title of this, but whatever...

See:
Mother's curse: the effect of mtDNA on individual fitness and population viability.

https://www.ncbi.nlm.nih.gov/pubmed/16701262

"there is increasing evidence that mitochondrial DNA (mtDNA) is an important contributor to viability and fecundity. Some of this evidence is now well documented, with mtDNA mutations having been shown to play a causal role in degenerative diseases, ageing, and cancer. However, most research on mtDNA has ignored the possibility that other instances exist where mtDNA mutations could have profound fitness consequences. Recent work in humans and other species now indicates that mtDNA mutations play an important role in sperm function, male fertility, and male fitness. Ironically, deleterious mtDNA mutations that affect only males, such as those that impair sperm function, will not be subject to natural selection because mitochondria are generally maternally inherited and could reach high frequencies in populations if the mutations are not disadvantageous in females. "

MtDna "H", in particular, has been associated with increased resistance to sepsis, which is a huge deal in a world without antibiotics, and also with increased resistance to viral infections, including AIDS. That's why I have speculated for a long time on these boards and even on the old dna forums that mtDna frequencies may be the result of selection, especially in periods of extreme stress, as in the face of plague, which has been a repeated scourge.

See:
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2699618/

My U2e seems to rather be a loser in this regard, probably contributing to the fact that it is now so rare.

As for natural selection in terms of both skin pigmentation and lactase persistence, the papers are too numerous to post. Anybody interested can easily find them using the search engine.

Just generally, we see these de-pigmentation snps popping up here and there, but I don't think it's a coincidence that the place that suddenly seems to sprout a number of them all together should be in a place in Europe with very low levels of sunlight. The same thing happened in northern East Asia, although they have their own snps, not associated with SLC 24A5 or 42A5, for example.

Anyway, that doesn't mean that once present in a population in good numbers it wouldn't have spread with that population or that selection is only natural when it's probably social as well. There are a lot of factors involved.

I also have a hunch, although that's all it is, that LP and de-pigmentation are somehow connected in later periods. You need Vitamin D to process dairy if I understand it correctly, so having pale skin in a low light environment would be very beneficial.

Ed. @Fire-Haired,
I agree with you generally, but pre-steppe arrival people of central Europe were not "dark skinned". Remember the Gamba et al paper, and Otzi even further south with both his copies of derived SLC24A5 and SLC42A5. Also remember the people in Neolithic Anatolia who also had both derived copies. It's just that it wasn't in the high percentages of later periods.

I don't think this all happened in the Bronze Age to Iron Age. I think it's been an ongoing process. However, I also don't think this is all the result of migrations.
 
This argument falls apart when autosomally dissimilar populations share similar allele frequencies in certain SNPs. Italians and Lithaunains have the same frequency of light skin mutations. They're about as different as two Europeans can get. Many SC Asians have the same frequency of the "European" Lactose persistence mutation as Lithuanian. What the heck else could explain this except natural selection?

I was always thinking that light skin mutations differed in people from more southern latitudes compared to more northern ones. This study says exactly so:

"We have recently(Lucotte et al., 2010) studied the detailed distribution of the 374Fallele in 2063 unrelated subjects from 18 European and 3 NorthAfrican populations; the highest allele frequency is observed inDenmark (0.980), and the lowest frequencies are observed inTunisia (0.610) and in Morocco (0.691). A significant decreasinglatitudinal cline in 374F allele frequencies was established in thisstudy, ranging from the north of West Europe to North Africa." http://www.academicjournals.org/article/article1379514057_Lucotte and Yuasa pdf.pdf
 
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I'm not making "assumptions" I'm making reasonable conclusions based on reliable data. I'm making the reasonable conclusion that Andronvo and modern Europeans do descend from swarthy and lactose intolerant Chalcolithic peoples. It's reasonable because we have pigmentation SNP data from all over the Chalcolithic Steppe and Neolithic Europe. They were all the same. Dark skin, brown eyes, and lactose intorlent. There is no documentation of an ultra pale and lactose tolerant population hiding anywhere in pre-Bronze age Europe.

Do you understand that if natural selection played no role then; There were ultra pale lactose tolerant EEF populations and ultra pale lactose tolerant WHG populations and ultra pale lactose tolerant Steppe populations. It couldn't have been one or the other because modern Europeans have huge chunks of ancestry from each group. That despite all the data showing dark skin, brown eyes, and lactose intolerance there were light skinned, blue eyed, lactose tolerant people all over Europe who are the real ancestors of modern Europeans. That's crazy.

We aren't discussing whether natural selection is real or not, we're talking about the surge of lactase persistence, light pigmentation and mtDNA H in Europe from the Bronze Age into the Iron Age. If this wasn't a result of frequent population turnovers, you'd have to posit that those traits conferred a significant advantage or that severe purifying selection was in place during the late metal ages. I don't think either of these possibilities look very promising, since both LP and light pigmentation seem to confer only a rather modest advantage (not to mention to puzzling case of mtDNA H).

That's why I cited the temporally analogous expansion of R1b-S116 & U106. Was the spread of these haplogroups a result of Darwinian selection and/or purfying selection against 'competitors' as well in your opinion?
 
It sounds like population replacement rather than natural selection "in situ" (among previous inhabitants).

In other words: a light-skinned, lactose-tolerant population invaded, replacing Neolithic/Mesolithic groups.

But some mixing with previous inhabitants also took place.
Please, don't jump into conclusions too quickly. Like assuming that farming came to Latvia as an idea and not with farming population. So give it some more thought. Clues are in front of you.

Your explanations sounds like this, god created 100% lactose persistent tribe somewhere else, and they came to Estonia and replaced most population. Why do you think LP couldn't explode in Estonia, around Baltic? There is always plenty of grass, even when crops fail in cold years. We have farmer herders with cows there, we have plenty of grass, and LP gives population a great advantage. Why not?
 
You're naively assuming that autosomally similar populations cannot replace one another. Expansions from relatively insignificant fringe populations due to a relatively more adapted phenotype would hardly even show up in the autosomes. Something like this is also what the Y-DNA distributions - especially in Western Europe - would suggest.

The idea that mtDNA H, light pigmentation and lactase persistence became so prevalent in Europe across the board due to in situ 'natural selection' is frankly insane. This would only be feasible if Europeans had been teetering on the verge of extinction, perhaps.

Bingo! This explosion in LP happened right after Bronze Age collapse. Plus, very advantageous mutations don't need big disaster to propagate through population, but obviously are helped by them.
 
Try to explain this without natural selection....

Yamnaya light eye frequency: 9%
Andronovo, Sintashta, Srubnaya light eye frequency: 54%

Yamnaya light skin mutation frequency: 17%
EEF light skin mutation frequency: 15-20%
Andronovo, Sintashta, Srubnaya light skin frequency: 75%
Modern Europeans: 80-100%

Lactose persistance mutation.
All Europeans before the Bronze age: 0%
LNBA Northern Europe: 15%
BA/IA Northern Europe(Britain, Poland, Baltic): 50%

Who would say natural selection didn't play a role when looking at those numbers...
Great stats FH, to visualize the Estonian effect. There is no known population in Europe and Asia at this time, with higher LP and whiter skin mutations, to have come to Estonia to replace locals. Even if there were, it needed to be close by with similar genetics.
So why not here, where every year grass grows but not crops, and where the lowest UV irradiation place is in the whole Europe? Also keep in mind that these are farmers who always lack vitamin D in their diet, unlike HGs.

This BA explosion of LP and white skin, confirms hypothesis that whitest people were always the farmers, not HGs, and mostly due to change in diet. We have similar phenomenon in NE Asia, where the whitest peeps are the Korean and North Japanese (farmers), and not the HGs societies who live farther North off them.
 
Angela said:
My U2e seems to rather be a loser in this regard, probably contributing to the fact that it is now so rare.

It was never frequent anywhere to begin with. Show me any ancient population in which U2e was frequent.

It might be actually more common today than it used to be several thousand years ago.

=============================

Edit: here you can find mtDNA haplogroup frequencies over time and space (this is FireHaired's chart):

https://docs.google.com/spreadsheet...OSrFqLmdaewuc4jiiBipNtjls/edit#gid=2051444765

http://mtdnaatlas.blogspot.com
 
I kind of agree. Some hunter gatherers and EEF farmers could have been pretty pale. Natural selection definitely played a part though.
Academically speaking this is an example of selection, technically, especially with LCT, but when you throw in the complexity of human consciousness->culture it begs more questions. I think what you're getting at in your earlier post was that LCT was the real gene being selected for by "nature", and that this may have been passed around through light featured women of mt H? Is that right? I can buy this. And whether or not light features being aesthetically preferred had anything to do with this will probably never be known, at least in that time period.
 
As per my post number 32, it's pretty clear, imo, how selection would have favored mtDna "H" and not my "U2e" for example, not only at times of extreme stress from incoming disease or war but just from normal infections etc. Of course, in times of war and plague the benefits would be even greater.

Likewise, in times of upheaval or environmental change, when crops fail, or they're only available at certain times of the year because of the latitude, it's a great advantage to be able to digest cows milk. It could spell the difference between life and death.

As for this eternal discussion of pigmentation, as has been said over and over again, Yamnaya couldn't have bequeathed light pigmentation on anyone because they didn't have very much of it themselves. Corded Ware is still, so far as I know, 75% Yamnaya like in terms of autosomal similarity. Yet, Corded Ware is demonstrably fairer. Did it all come from the other 25%, or did selection play a role? Indeed, we may have been overstating the fairness of all these Mesolithic h-gs or even EHG, and indeed the sweep may not have been complete until the Iron Age.

Razib:

"Razib Khan tweet feed


"if the ancient DNA about SNPs is correct, theories of blonde nordics seeding bronze age non-european civilizations can't be correct."

"the pattern of pigmentation in north europe pops suggests modern 'nordic' phenotype settled own in iron age!!!"

Pigmentation snps in ancient northern Europe.PNG

He obviously means settled down in Iron Age, at least for North Europe. It's good to be reminded, I think, that we don't have all that many ancient samples from the Mesolithic in certain areas. People, including me, generalized from the pigmentation of that group of SHG, when in fact the story is more complicated.

For the pigmentation of Yamnaya, see:

Sandra Wilde et al;
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3977302/

Iain Mathiesen et al:
http://biorxiv.org/content/biorxiv/early/2015/03/13/016477.full.pdf

As to mtDna U2e, no, it was never all that frequent, but it did enjoy a boost in Europe after the steppe invasions, and then quickly and permanently declined after that. I won't get into all the fitness issues, but they exist.

From Brandt et al:
timeline.jpg
 

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