Natural Selection Transformed European mtDNA?

[Fire Haired14]

What the heck happened to European mtDNA?

There's been a decent sized collection of mtDNA from Germany and Hungary dating 5500-3500 BC for a few years now. I've known they had different haplogroup frequencies than anyone in modern Europe for a few years. That's just one region, for all we know no European's have EEF ancestry from that region.

Now though thanks to Once Upon a Time in the West there's a decent amount of mtDNA from Iberia dating to the same period. Iberians of that era had a similarly different frequency of haplogroups compared to modern Europeans as Central Europeans. This universal change wasn't due to migration, it was (probably)due to natural selection.

Here are Haplogroup frequencies from the new data given by Once Upon a Time in the West.

Era	Neolithic	Chalcolithic+Bell Beaker	Chalcolithic(xBBC)	Bell Beaker	Bronze age
N#	86	123	92	31	28
K	29(25)	27.6(34)	22(2)	45.2(14)	25(7)
J	10.5(9)	14.6(18)	15.2(14)	13(4)	10.7(3)
T	14(12)	6.5(8)	4.3(4)	13(4)	3.6(1)
U5b	15.1(13)	13.8(17)	12(11)	19.4(6)	14.3(4)
U5a1	0	2.4(3)	0	9.7(3)	0
U4	2.3(2)	2.4(3)	2.2(2)	3.2(1)	0
U2e	1.2(1)	0	0	0	0
H1	7(6)	13.8(17)	14.1(13)	13(4)	25(7)
H3	2.3(2)	4.1(5)	4.3(4)	3.2(1)	0
Other H	3.5(3)	9(11)	9.8(4)	6.4(2)	10.7(3)
HV0	5.8(5)	6.5(8)	7.6(7)	3.2(1)	10.7(3)
X	9.3(8)	1.6(2)	1(1)	3.2(1)	3.6(1)
W	0	0	0	0	0
I	0	0	0	0	0
N1a1a	1.2(1)	0	0	0	0

0% W, ~0% N1a1a. Combined they were at 10-15% in Neolithic Central Europe and Turkey. Lower frequency of T2b and higher frequency of K, H1, and H3 than Neolithic Central Europe and Turkey.

H(xH1, H3) was 3x less popular than in Spain today. Haplogroup K was 2x-3x more popular than in Spain today. Haplogroup T2 was more popular than in Spain today. 0% T1a, J1b1a1, N1a1b, H6, H2a1, H2a2b, U5a all of which are potentially Steppe lineages and combined at 10% in Spain today.

[Fire Haired14]

A Time Series of Prehistoric Mitochondrial DNA Reveals Western European Genetic Diversity Was Largely Established by the Bronze Age

Abstract.

A major unanswered question concerns the roles of continuity versus change in prehistoric Europe. For the first time, genetic samples of reasonable size taken at multiple time points are revealing piecemeal snapshots of European prehistory at different dates and places across the continent. Here, we pull these disparate datasets together to illustrate how human genetic variation has changed spatially and temporally in Europe from the Mesolithic through to the present day. Mitochondrial DNA (mtDNA) haplogroups were determined for 532 European individuals from four major eras: the Mesolithic, Neolithic, Chalco-lithic (late Neolithic/early Bronze Age transition) and Modern periods. The Mesolithic was characterized by low mtDNA diversity. These initial European settler haplogroups declined rapidly in the Neolithic, as farmers from the east introduced a new suite of mtDNA lineages into Western Europe. For the first time, we show that the Chalcolithic was also a time of substantial genetic change in Europe. However, rather than the arrival of new mtDNA lineages, this period was characterized by major fluctuations in the fre-quencies of existing haplogroups. Besides the expansion of haplogroup H, there were few major changes in mtDNA diversity from the Chalcolithic to modern times, thus suggesting that the basic profile of mod-ern western European mtDNA diversity was largely established by the Bronze Age.

[berun]

You take Iberia per granted, but it's only a geographic label, known only with the Romans. EEF were not conscious about European geography and they expanded as their population increased. Better than modern conventional geographic labels I prefer to look at economic / ecosystem areas. The Cardial culture was expanding as its population increased, but there are regions that are not fittable for agriculture (Portugal, Mesetas, Cantabric fringe, Alps), and such areas would be also populated by EEF, but mainly dedicated to herding, and that may have provided there different percents in haplogroups. In fact high H mtDNA freqs are in Neolithic Portugal, the interesting papers have been already pointed out. From there the BB expanded, also it was pointed out. So a "universal" kind of Western European superdrift is not necessary.

[Fire Haired14]

In fact high H mtDNA freqs are in Neolithic Portugal, the interesting papers have been already pointed out. From there the BB expanded, also it was pointed out.

All the old ancient Iberian mtDNA papers show crazy high frequencies of H because they're sampling technique was flawed in some way. They found high frequencies of H in Mesolithic and Paleolithic Iberia and Italy and France and Greece and Russia! No matter where they went all they found was H! The reason is first they weren't gathering real ancient DNA and second they assumed an mtDNA with an identical HVR1 region to the rCRS(random American who's mtDNA was tested in 1981) has H.

So a "universal" kind of Western European superdrift is not necessary.

Those ancient Portuguese would have to have something like 80% H to mix with locals and then create modern H frequencies. Also high frequencies of H isn't just Western European, it's European, it's as frequent in Ukraine as in Spain.

[berun]

I think I can't discuss this issue with you if you take unconvenient results as unvalid. The worst is that the results that you critizice deliver your sine qua non 80%........

[Fire Haired14]

I think I can't discuss this issue with you if you take unconvenient results as unvalid. The worst is that the results that you critizice deliver your sine qua non 80%........

Do you think Neolithic Portugese migrated to every spot of Europe and made a huge mtDNA impact? From data I've seen H is at 40-45% in most of Eastern Europe. Of course this is not impossible. We've seen migrations like that in ancient DNA.

Anyways I do have very good reason to not trust old ancient mtDNA studies. They've been proven incorrect before. I don't need to be scientist who examines their methods to see their results have never made sense. Once we get more than a couple dozen mtDNA samples from Neolithic Portugal and there's still a crazy high frequency of H I'll listen. A small sample set from an old study isn't good evidence they had crazy high frequencies of H.

[LeBrok]

Do you think Neolithic Portugese migrated to every spot of Europe and made a huge mtDNA impact? From data I've seen H is at 40-45% in most of Eastern Europe. Of course this is not impossible. We've seen migrations like that in ancient DNA.

Good point. Population of Portugal wouldn't be big enough to make impact on rest of Europe. On other hand huge population from vast steppe could.

[Fire Haired14]

Good point. Population of Portugal wouldn't be big enough to make impact on rest of Europe. On other hand huge population from vast steppe could.

One could argue they lived throughout Europe not just Portugal. That argument isn't obserd because we only have decent Neolithic mtDNA data bases from Germany, Hungary, and Spain. Germany and Hungary are similar and don't change much throughout the entire Neolithic(except for rise in U5b).

[berun]

The case is that you are arguing yet against papers that you don't know or even read, the most recent is of 2016, if that is old ancient....

By the way the H in easteen Europe will have its reason. The western H is by BB and the demographic fall of the Neolithic societies.

[berun]

The case is that you are arguing yet against papers that you don't know or even read, the most recent is of 2016, if that is old ancient....

By the way the H in easteen Europe will have its reason. The western H is by BB and the demographic fall of the Neolithic societies.

[Fire Haired14]

The case is that you are arguing yet against papers that you don't know or even read, the most recent is of 2016, if that is old ancient....

That one from 2016 found multiple Hs in pre-Neolithic Spain even though 0 of 100 of other mtDNA samples from pre-Neolithic Western Europe(inclu. France) aren't H. It's extremly unlikely there was any decent presence of H anywhere in pre-Neolithic Western Europe. One of the samples they claimed was H had her genome sequenced by another study and she turned out to be typical Meso/Paleo European U5b. She's the ElMiron lady.

I think I'm rightfully skeptical of old ancient mtDNA studies. I keep their results in the back of my mind as a possible reality.

By the way the H in easteen Europe will have its reason. The western H is by BB and the demographic fall of the Neolithic societies.

I don't deny it's possible people from Iberia migrated to Eastern Europe. Bell Beaker isn't the only way they could have done it btw. There's no way to confirm or disprove it with autosomal DNA because no methods can detect noticeable differences between Neolithic Iberians and Central/East Europeans. There isn't enough ancient mtDNA data to disprove or prove it either. All we can do at this point is guess. Modern mtDNA can't give any answers.

We have lots of Neolithic Iberian mtDNA samples. From all over Spain. Their frequency of H was under 30%. Spain wasn't a H hotspot. It was a H1 and H3 hotspot though. To me natural selection favoring H is the most reasonable explanation for 40%+ frequencies all over Europe today.

[berun]

You are yet not reading the papers. You say that they found H in Spain! With that it's done to me.

[Angela]

The 2016 paper merely repeated results from older studies that are justifiably controversial. They are old, done before the advance of the science of analyzing ancient dna, and there is also criticism of the dating of some of these samples. I personally am taking a wait and see approach. All of those samples should be re-dated and re-tested.

There are indeed some studies tying mtDna "H", in particular, to some advantages in terms of reactions to septic infections. I've posted about them and a search of the site or google should turn them up.

[berun]

Right now I know what might feel a teacher in a 5 year-old class:

This study furthermore included data from Early to Late Neolithic/Chalcolithic individuals. Analyzed as part of the thesis of HELENA CHANDLER in 2003, the data were, however, not published in a peer-reviewed journal. The description of methods and results is extensive enough to evaluate the quality of the dataand use most of them for population genetic analyses. Samples from all Neolithic to Chalcolithic sites (Gruta do Caldeirão [Early Neolithic], Algar do Bom Santo [Middle Neolithic], and Perdigões [Chalcolithic]) can be assigned to hgs H, U5a, U5b, and V.

also a lot of H in Afonso

[Angela]

Perhaps it's more like a teacher in a class for English as a second language student?

The operative word is "controversial" results. That means not all scientists accept them.

[berun]

Can you provide which scientist(s) with published papers is/are not accepting it?

[Olympus Mons]

Can you provide which scientist(s) with published papers is/are not accepting it?

I think in chess this is called a checkmate?

[Angela]

It's actually called the typical pop gen forum discussion where agendas reign, even over something like mtDna. I've absolutely no patience anymore for any of this. Believe whatever the heck you want. Who cares whether mtDna H was in Iberia before the Neolithic except as a matter of minor intellectual curiosity? Do you get some sort of prize?

Some of you people need to get a life where your worth isn't determined by which ancestors moved onto what plot of ground first more than 5000 years ago. I sometimes can't believe you people are for real.

[berun]

I was asking a serious question on scientific terms and you come back with agendas and a search for real people... amazing.

The case is that out there are people that unconsciously repeat all convenient flaws against data that is not pro-steppe. I don't win any prize but at least exposing thruth will allow to be more near of the true history, and I consider history important, and to know the true history will be my/our prize.

[hrvclv]

I only recently discovered Eupedia. I am H1b, and therefore faced with just as many questions as the next H man.
I am no geneticist, no archeologist. So all I can offer is the candidness of the non-specialist.

I took a close look at Maciamo's "Frequencies by Period" in prehistoric Europe, I observe that
- Haplogroup H is virtually absent from paleolithic western Europe.
- Absent to very low in mesolithic western Europe.
- Was rare among neolithic Anatolian farmers when they were in the East - before they started moving west.
- Not significant among Yamna people.
- Then during the Neolithic, it suddenly accounts for 24% of Cardium pottery people, and 33.5% of LBK ; adding up to a total of 22.5% of neolithic Europe.
-Bronze Age : 35.5% Srubna. 42.5% German Bell Beaker.

If one admits that the H women were taken west by newcomers, we may also consider that it probably took more than one wave of mixed "marriages" to explain today's levels of H along the Atlantic fringe.

It is apparently accepted that European hunter-gatherers (I2a) sought refuge in southern Europe when the ice descended on them. If it wasn't Spain, nor Anatolia, the one place left is the (north) Balkans. For some reason (wide dispersal of U, eg), I believe HGs were far more mobile than other populations. When the ice receded, they moved north again, fanning out towards Bavaria, Bohemia, Poland, Ukraine.
In Belarus or thereabouts, they came into contact with R1a people who were heading (north-)west. And have remained there to this day - accounting for the current percentiles of some specific H clades in that area.
Some time later, the Eastern farmers moved from Anatolia to the Balkans, where they stayed quite a while. They assimilated the I2 men they didn't kill, and took some of their H women with them on their trip further west.
The same thing must have happened in the north, first with LBK G2a EEF, then a few thousand years later, when R1b started expanding. Corded ware had 21.5% H women. Unetice : 20.5%. And steadily rising as time passed.
This scenario would explain why the very "Russian" H1b gene ended up in my very French genetic make-up.

Natural selection ? Certainly. We can't rule out the hypothesis of an epidemic that selectively wiped out the non-H women of Central Europe. But if natural selection it was, it may well have been natural selection through... (I'm not kidding) sex-appeal !
In other words, my grandmothers were repeatedly picked by newcomers as wives (or sex-slaves!) because they were simply... so cute !

[Maciamo]

I only recently discovered Eupedia. I am H1b, and therefore faced with just as many questions as the next H man.
I am no geneticist, no archeologist. So all I can offer is the candidness of the non-specialist.

I took a close look at Maciamo's "Frequencies by Period" in prehistoric Europe, I observe that
- Haplogroup H is virtually absent from paleolithic western Europe.
- Absent to very low in mesolithic western Europe.
- Was rare among neolithic Anatolian farmers when they were in the East - before they started moving west.
- Not significant among Yamna people.
- Then during the Neolithic, it suddenly accounts for 24% of Cardium pottery people, and 33.5% of LBK ; adding up to a total of 22.5% of neolithic Europe.
-Bronze Age : 35.5% Srubna. 42.5% German Bell Beaker.

If one admits that the H women were taken west by newcomers, we may also consider that it probably took more than one wave of mixed "marriages" to explain today's levels of H along the Atlantic fringe.

It is apparently accepted that European hunter-gatherers (I2a) sought refuge in southern Europe when the ice descended on them. If it wasn't Spain, nor Anatolia, the one place left is the (north) Balkans. For some reason (wide dispersal of U, eg), I believe HGs were far more mobile than other populations. When the ice receded, they moved north again, fanning out towards Bavaria, Bohemia, Poland, Ukraine.
In Belarus or thereabouts, they came into contact with R1a people who were heading (north-)west. And have remained there to this day - accounting for the current percentiles of some specific H clades in that area.
Some time later, the Eastern farmers moved from Anatolia to the Balkans, where they stayed quite a while. They assimilated the I2 men they didn't kill, and took some of their H women with them on their trip further west.
The same thing must have happened in the north, first with LBK G2a EEF, then a few thousand years later, when R1b started expanding. Corded ware had 21.5% H women. Unetice : 20.5%. And steadily rising as time passed.
This scenario would explain why the very "Russian" H1b gene ended up in my very French genetic make-up.

Natural selection ? Certainly. We can't rule out the hypothesis of an epidemic that selectively wiped out the non-H women of Central Europe. But if natural selection it was, it may well have been natural selection through... (I'm not kidding) sex-appeal !
In other words, my grandmothers were repeatedly picked by newcomers as wives (or sex-slaves!) because they were simply... so cute !

Thanks for sharing your ideas.

I doubt that mtDNA can influence sex-appeal. That has more to do with beauty (good autosomal genes), character (innate and built on experience), happiness, and so on.

Personally I think there are two main reasons that explain why haplogroup H is so common in Europe today.

1) It was present in all prehistoric groups except Mesolithic West and Central Europeans (as far as we know now). H has been found in Mesolithic Sweden, Lithuania, Russia, and was very probably present in Mesolithic Iberia, Italy and Greece too. H was found among Near Eastern Neolithic farmers (H2b, H5, etc.), and more H came with the Indo-European migrations (H1b, H1c, H2a1, H4a1, H6, H8, H11a, H15). Since maternal lineages were not replaced like paternal ones with new waves of invaders, old H subclades remained and were joined by new ones with each migration.

2) Haplogroup H has been linked with more efficient oxygen consumption by the body, increased fitness and endurance, lower risk of septicaemia, etc. Overall H individuals seem more physical resistant, which in harsher historical times would have been a great advantage for survival (especially among the lower classes who had to toil in the fields most of their lives). The increased fitness and endurance may also have helped H mothers withstand better pregnancies and give birth to more children. Just look at famous H women like Empress Maria Theresa (16 children), her daughter Maria Carolina of Austria -also 18 children), or Queen Victoria (8 children despite her husband dying at age 42).

[Tomenable]

It has probably a lot to do with the Rh factor incompatibility:

Rhesus negative blood types peak in Europeans and in Basques among Europeans. Given the distribution local to Europe it's fair to assume that Mesolithic Western Europeans were high or perhaps homozygous for the Rhesus negative blood type.

If a Rhesus negative woman conceives a child with a Rhesus positive man then typically she would not be able to have more than 1 child due to RH factor incompatibility. Heterozygotes are RH positive so there would be no Rhesus factor incompatibility for a homozygous RH negative man conceiving children with a homozygous RH positive woman.

If we have a situation in Neolithic Western Europe where incoming (homozygous) RH positive farmer groups are exchanging wives with local RH negative Hunter Gatherer groups, then we would see a significant decrease in fertility for EEF Male / HG Female pairings. Especially in relation to HG Male / EEF Female pairings. As RH positive alleles spread through HG groups this would further reduce fertility among Rhesus negative women in HG groups.

Unfortunately none of the ancient genomes we have so far have been typed for the Rhesus factor snps/gene (I've checked). But given modern distributions, the only way we could have a peak of RH negative blood types in Basques is almost certainly from some Meso or Paleolithic founder effect in a refugium around the Pyrenees.

The effect of this compounded over thousands of years would explain the disappearance of both mtDNA U5b (local HG mtdna) and Y DNA G2a. Natural selection in effect as you suggested.

Modern medicine can deal with serological conflict, but back then?

[firetown]

Unfortunately none of the ancient genomes we have so far have been typed for the Rhesus factor snps/gene (I've checked). But given modern distributions, the only way we could have a peak of RH negative blood types in Basques is almost certainly from some Meso or Paleolithic founder effect in a refugium around the Pyrenees.

Unless the group originally migrating into the Basque region brought the rh negative blood factor from somewhere else like the Fertile Crescent region.

[Wheal]

And small population groups interbred so much the offspring didn't survive and the influx of new mating partners brought a wave of healthy children

[Expredel]

I think autosomal incompatibilities with mtdna may play a role as well. If we see that H has an advantage it may mean European autosomes are optimized to work well with H mtdna. In East Asia we may see negative correlations with H mtdna. Something to consider.

From an evolutionary perspective we can also expect the rise of dozens of mtdna variants with positive mutations in the past 10,000 years. The problem with old mtdna studies is that they're looking at very old mt haplogroups. I haven't seen any diagrams with weighted mtdna trees like the ones that were published for y dna some years ago. This either means lack of research or that there is nothing worth researching.

Until I see a weighted tree with mtdna bottlenecking multiple times in the past 13,000 years I remain skeptical about mtdna having much influence.