Genetics of Mesolithic Scandinavia

"The low-rooted, short, wide, and also upturned nose seems to be a constant, as is the very wide face and high cheekbones. There must be some sort of environmental advantage for those kinds of noses in high latitude, cold environments."

A very recognizable phenotype until today in Northern Europe and especially in the Baltic I guess....


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the short nose, the high cheekbones, the broad face, isn't it similar to the adaptation of the Mongoloïd race to the Siberain cold?
on top of that, this is the only place and era when EDAR appeared in Europe
 
Let's keep in mind that some phenotypical traits might be purely coincidental and not strictly adaptational. Due to low population numbers, frequent bottlenecking and founder effects.
 
the short nose, the high cheekbones, the broad face, isn't it similar to the adaptation of the Mongoloïd race to the Siberain cold?
on top of that, this is the only place and era when EDAR appeared in Europe

Yes, the Gunther et al paper makes a point of stating that EDAR may have been present in the EHG as well, and the reason it hasn't turned up is because we have so few samples.

I think I read something just the other day that even the WHG may be able to be modeled with some "eastern" ancestry.

This constellation of features certainly seems very Siberian like to me, even Native American like. Of course, the pigmentation camouflages it.

Native woman from Alaska:
5-650-3427.headdress.m.jpg



Obviously, there are major differences, but there are also similarities.

Meanwhile, 3,000 BC, Gozo, Malta...longer, narrower face, larger eyes, lower cheekbones. I'm not so sure they got the nose right: it looks "off" for her facial structure.
9278199d0d2e61178d7c5f7493317200.jpg
 
Yes, the Gunther et al paper makes a point of stating that EDAR may have been present in the EHG as well, and the reason it hasn't turned up is because we have so few samples.

I think I read something just the other day that even the WHG may be able to be modeled with some "eastern" ancestry.

This constellation of features certainly seems very Siberian like to me, even Native American like. Of course, the pigmentation camouflages it.

Native woman from Alaska:
5-650-3427.headdress.m.jpg



Obviously, there are major differences, but there are also similarities.

Meanwhile, 3,000 BC, Gozo, Malta...longer, narrower face, larger eyes, lower cheekbones. I'm not so sure they got the nose right: it looks "off" for her facial structure.
9278199d0d2e61178d7c5f7493317200.jpg

Than this must be the EHG contribution? WHG with roots in Southwestern Europe (La Brana) had no need for cold climate adaptions.....But when the WHG are close tied to the Saami? An adaption later on?
The WHG in and around the Doggerbank already lived 53rd parallel north and higher.....I don't know if the climate at that time and place urged to adaptions.
 
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oldest pressure flaking appeared in Hokkaido, northern Japan 21 ka (see Aggsbach)
did EDAR come along with pressure flaking?
in Europe, EDAR disappeared again, there was no advantage and no natural selection in favour of it

I don't think R1a/R1b EHG were the origin of EDAR.
I would guess C2 and Q1a2 were, and there has been Q1a2 Y-DNA found in mesolithic eastern Europe.
 
@mlukas thanks for posting all that sup. info. it gave me a renewed picture of mesolithic phenotype
 
The subject paper was discussed by Razib Khan in his blog post called: "Ancient Europeans, Isolated, Always on the Edge of Extinction"

https://gnxp.nofe.me/2017/07/25/ancient-europeans-isolated-always-on-the-edge-of-extinction/

He quotes the paper for the following:

"Based on SF12’s high-coverage and high-quality genome, we estimate the number of single nucleotide polymorphisms (SNPs) hitherto unknown (that are not recorded in dbSNP (v142)) to be c. 10,600. This is almost twice the number of unique variants (c. 6,000) per Finnish individual (Supplementary Information 3) and close to the median per European individual in the 1000 Genomes Project (23) (c. 11,400, Supplementary Information 3). At least 17% of these SNPs that are not found in modern-day individuals, were in fact common among the Mesolithic Scandinavians (seen in the low coverage data conditional on the observation in SF12), suggesting that a substantial fraction of human variation has been lost in the past 9,000 years (Supplementary Information 3). In other words, the SHGs (as well as WHGs and EHGs) have no direct descendants, or a population that show direct continuity with the Mesolithic populations (Supplementary Information 6) (13–17). Thus, many genetic variants found in Mesolithic individuals have not been carried over to modern-day groups."


"And yet the distinctiveness of the very high quality genome as inferred from unique SNPs they have suggests to them that very little of the ancestry of modern Scandinavians (and Finns to be sure) derives from these ancient populations. Very little does not mean all. There is a lot of functional analysis in the paper and supplements which I will not discuss in this post, and one aspect is that it seems some adaptive alleles for high latitudes might persist down to the present in Nordic populations as a gift from these ancient forebears. This is no surprise, not all regions of the genome are created equal (a more extreme case is the Denisovan derived high altitude adaptation haplotype in modern Tibetans).

Nevertheless, there was a great disruption. First, the arrival of farmers whose ultimate origins were Anatolia ~6,000 years ago to the southern third of Scandinavia introduced a new element which came in force (agriculture spread over the south in a few centuries). A bit over a thousand years later the Corded Ware people, who were likely Indo-European speakers, arrived. These Indo-European speakers brought with them a substantial proportion of ancestry related to the hunter-gatherers because they descended in major fraction from the EHG (and later accrued more European hunter-gatherer ancestry from both the early farmers and likely some residual hunter-gatherer populations who switched to agro-pastoralism**).""

"Though the expanding farmers initial mixed with hunter-gatherers on the frontier, once they got a head of steam they likely replaced small hunter-gatherer groups in totality, except in areas like Scandinavia and along the maritime fringe where ecological conditions were such hunter-gatherers were at advantage."

"But this is not the end of the story for Norden. At SMBE I saw some ancient genome analysis from Finland on a poster. Combined with ancient genomic analysis from the Baltic, along with deeper analysis of modern Finnish mtDNA, it seems likely that the expansion of Finno-Samic languages occurred on the order of ~2,000 years ago. After the initial expansion of Corded Ware agro-pastoralists."

 
Before making any hasty linguistic conclusions you should read this post: http://terheninenmaa.blogspot.be/

If Finns are linguistically different from Baltic Corded Ware, Finns and Estonians are also genetically completely different from the Estonian Corded Ware.

This is clearly visible in the Finnish mtDNA. The oldest haplogroups (>2000 years) are specific to Finns. They are not represented in the Baltic Bronze Age apart from U5b1b which is a mesolithic survivor in the whole Northeastern Europe, H5a1 which dates only to 0 AD in Finns and LBA Kivutkalns164 Latvia 500 BC U5a2a1, which is probably of Uralic origin in the Baltics. The Finnish-specific mtDNA has not been found in ancient Scandinavia either, except for on a very vague level such as U5a2a, age 10 000 years.

You cannot reconstruct the situation in Finland in the Corded Ware period without ancient data from Finland.

If you are interested, you can check the oldest specifically Finnish haplotypes here: https://www.nature.com/articles/s41598-017-05673-7/figures/1

Moreover, there are not any Siberian haplogroups on that list.

The recent Bell Beaker paper showed us that the shared archaeological context does not necessarily mean sharing the same genes and language as in the case of North-Central versus Southwestern Bell Beaker.
 
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Before making any hasty linguistic conclusions you should read this post: http://terheninenmaa.blogspot.be/

If Finns are linguistically different from Baltic Corded Ware, Finns and Estonians are also genetically completely different from the Estonian Corded Ware.

This is clearly visible in the Finnish mtDNA. The oldest haplogroups (>2000 years) are specific to Finns. They are not represented in the Baltic Bronze Age apart from U5b1b which is a mesolithic survivor in the whole Northeastern Europe, H5a1 which dates only to 0 AD in Finns and LBA Kivutkalns164 Latvia 500 BC U5a2a1, which is probably of Uralic origin in the Baltics. The Finnish-specific mtDNA has not been found in ancient Scandinavia either, except for on a very vague level such as U5a2a, age 10 000 years.

You cannot reconstruct the situation in Finland in the Corded Ware period without ancient data from Finland.

If you are interested, you can check the oldest specifically Finnish haplotypes here: https://www.nature.com/articles/s41598-017-05673-7/figures/1

Moreover, there are not any Siberian haplogroups on that list.

The recent Bell Beaker paper showed us that the shared archaeological context does not necessarily mean sharing the same genes and language as in the case of North-Central versus Southwestern Bell Beaker.

Thanks for the post, Kristina. I'll read the links with interest.
 
The subject paper was discussed by Razib Khan in his blog post called: "Ancient Europeans, Isolated, Always on the Edge of Extinction"

https://gnxp.nofe.me/2017/07/25/ancient-europeans-isolated-always-on-the-edge-of-extinction/

He quotes the paper for the following:

"At least 17% of these SNPs that are not found in modern-day individuals, were in fact common among the Mesolithic Scandinavians (seen in the low coverage data conditional on the observation in SF12), suggesting that a substantial fraction of human variation has been lost in the past 9,000 years (Supplementary Information 3). In other words, the SHGs (as well as WHGs and EHGs) have no direct descendants, or a population that show direct continuity with the Mesolithic populations (Supplementary Information 6) (13–17). Thus, many genetic variants found in Mesolithic individuals have not been carried over to modern-day ."[/COLOR]

There may be much lost but IMO different kind of genetic research have shown that around the Baltic Sea and in some lesser extent around the North Sea the genetic heritage of the hunter-gatherers on the modern North European geno- and phenotype is quite considerable.

The supplementary information from Genetics of Mesolithic about the impact on the phenotype is quite impressive:

"The heritability of the 17 tested physical exercise phenotypes are in the range 0.30-0.52 [243]. These cardiovascular traits are likely connected to the climatic conditions in northern Europe [238]. Four of the top 100 ranking SNPs (Table S10.1) are located in FHIT, which has been associated with a wide range of phenotypes (Table S10.2). These include psychological traits (sleep [245], attention-deficit hyperactivity disorder [246], major depressive disorder [247], Tobacco Use Disorder [248], Asperger Syndrome [249], metabolic traits (body mass index [250], type 2 diabetes [251]), cardiovascular traits (blood pressure [252]), and developmental traits (Cleft Lip [252], menopause [253]). Due to this large range of different phenotypes it is difficult to find a clear link to adaptation to high-latitude climates, although several of the traits involved have been linked to cold adaptation [238]."


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There may be much lost but IMO different kind of genetic research have shown that around the Baltic Sea and in some lesser extent around the North Sea the genetic heritage of the hunter-gatherers on the modern North European geno- and phenotype is quite considerable.

The supplementary information from Genetics of Mesolithic about the impact on the phenotype is quite impressive:

"The heritability of the 17 tested physical exercise phenotypes are in the range 0.30-0.52 [243]. These cardiovascular traits are likely connected to the climatic conditions in northern Europe [238]. Four of the top 100 ranking SNPs (Table S10.1) are located in FHIT, which has been associated with a wide range of phenotypes (Table S10.2). These include psychological traits (sleep [245], attention-deficit hyperactivity disorder [246], major depressive disorder [247], Tobacco Use Disorder [248], Asperger Syndrome [249], metabolic traits (body mass index [250], type 2 diabetes [251]), cardiovascular traits (blood pressure [252]), and developmental traits (Cleft Lip [252], menopause [253]). Due to this large range of different phenotypes it is difficult to find a clear link to adaptation to high-latitude climates, although several of the traits involved have been linked to cold adaptation [238]."


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So, are they suggesting that traits like ADHD, clinical depression, Asperger Syndrome, addiction to tobacco, type 2 diabetes, cleft lip etc. are more common in people from higher latitudes?
 
@Northerner,

The possible phenotype connection between SHG and modern Northern Europeans is interesting. The genotype connection between any northern HGs and modern northern Europeans outside of the Baltic region is really small. British/Irish origins are Bell beaker. Bell Beaker migration is the genesis story of Isles Celts. And if the ancestry isn't Bell Beaker it's from some other group from east of the British Isles(Anglo Saxons).
 
I was always under impression bell beaker was an R1B western Europe lineage, is this correct, or they were mixing with SHG? Fascinating topic
 
I was always under impression bell beaker was an R1B western Europe lineage, is this correct, or they were mixing with SHG? Fascinating topic

Believe it or not R1b in western Europe is not native to Western Europe. It originated somewhere around Ukraine and Russia 5,000 years, then it migrated west and quickly became the dominate Y DNA haplogroup in Western Europe. The first Bell Beaker folk didn't carry any R1b(P312). An R1b(P312) tribe from somewhere in Eastern Europe adopted Bell Beaker culture and then spread Bell Beaker culture and R1b into the British Isles, France, and Italy.

Olalde et al 2017,
The Beaker Phenomenon And The Genomic Transformation Of Northwest Europe

R1b(P312) spread into Ireland, England, France, Hungary, Poland, Germany with the Bell Beaker culture. It reached Portugal by at least 1500 BC (Martinano et al 2017). So very shortly after first R1b(P312) arrived it became widespread and popular.

Something I find interesting is that the R1b L21 Bell Beaker folk who migrated into Britain probably belonged single ethnic group that had a shared identity and language. Their migration into Britain and Ireland wasn't an accident. An entire R1b L21 ethnic group from continental Europe councisouly decided to leave Europe and settle in Britain. And they layed down the foundation of the modern British/Irish gene pool.

Olalde et al 2017 uses Bell Beaker from the Netherlands as a proxy for the ancestors of British Bell beaker folk because the Netherlands is close to Britain. But I think it's possible the ancestors of British Bell Beaker folk originated deep in Europe like in around Switzerland and Germany.
 
So, are they suggesting that traits like ADHD, clinical depression, Asperger Syndrome, addiction to tobacco, type 2 diabetes, cleft lip etc. are more common in people from higher latitudes?

It looks like.....[emoji15] those awful long dark winters in caves....[emoji12]


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@Northerner,

The possible phenotype connection between SHG and modern Northern Europeans is interesting. The genotype connection between any northern HGs and modern northern Europeans outside of the Baltic region is really small. British/Irish origins are Bell beaker. Bell Beaker migration is the genesis story of Isles Celts. And if the ancestry isn't Bell Beaker it's from some other group from east of the British Isles(Anglo Saxons).

I doubt that. It would be nice if there was some in depth research around the North Sea. I have put some modern North Dutch auDNA in the different admixtures and I estimate the WHG level about 80% of the Baltics. That's quite considerable....

There was indeed the influence of the Neolithic (TRB) and the Steppe, but the Ertebølle people and their genetics could well be a basic layer in the modern gene pool of the North.

https://en.m.wikipedia.org/wiki/Ertebølle_culture


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So, are they suggesting that traits like ADHD, clinical depression, Asperger Syndrome, addiction to tobacco, type 2 diabetes, cleft lip etc. are more common in people from higher latitudes?
May be it's not only the higher latitude but also the HG component as such.
HG genes are responsible for a lower dopamine level. To be specific: SNP RS4680 is responsible for the dopamine leven. AA is high dopamine, AG medium, GG low dopamine. Low dopamine is most suitable for peak moments, high dopamine for more planned, routines task. Therefore is low dopamine GG associated with the hunter and high dopamine AA with farmer.
The advantage for the hunter is a 'cool mind' during the hunt and a lesser pain response. But the big disadvantage is that they loose attention, get demotivated in more ordinary situations. People with high dopamine know more highs and lows and are mostly enjoying life more than people with low dopamine. These factors are indeed associated with ADHD, sleep, depressions etc.
May be exaggerated but can this also explain the more "blunt" associations for North Europeans with a higher HG (=low dopamine) component like the Balts and Scandinavians? And a more "vivid" (high dopamine) associations for Southern Europeans with a higher farmer component? Or is this to far-fetched?
 
May be it's not only the higher latitude but also the HG component as such.
HG genes are responsible for a lower dopamine level. To be specific: SNP RS4680 is responsible for the dopamine leven. AA is high dopamine, AG medium, GG low dopamine. Low dopamine is most suitable for peak moments, high dopamine for more planned, routines task. Therefore is low dopamine GG associated with the hunter and high dopamine AA with farmer.
The advantage for the hunter is a 'cool mind' during the hunt and a lesser pain response. But the big disadvantage is that they loose attention, get demotivated in more ordinary situations. People with high dopamine know more highs and lows and are mostly enjoying life more than people with low dopamine. These factors are indeed associated with ADHD, sleep, depressions etc.
May be exaggerated but can this also explain the more "blunt" associations for North Europeans with a higher HG (=low dopamine) component like the Balts and Scandinavians? And a more "vivid" (high dopamine) associations for Southern Europeans with a higher farmer component? Or is this to far-fetched?
Interesting. Is RS4680 a full number for this snp?
 
May be it's not only the higher latitude but also the HG component as such.
HG genes are responsible for a lower dopamine level. To be specific: SNP RS4680 is responsible for the dopamine leven. AA is high dopamine, AG medium, GG low dopamine. Low dopamine is most suitable for peak moments, high dopamine for more planned, routines task. Therefore is low dopamine GG associated with the hunter and high dopamine AA with farmer.
The advantage for the hunter is a 'cool mind' during the hunt and a lesser pain response. But the big disadvantage is that they loose attention, get demotivated in more ordinary situations. People with high dopamine know more highs and lows and are mostly enjoying life more than people with low dopamine. These factors are indeed associated with ADHD, sleep, depressions etc.
May be exaggerated but can this also explain the more "blunt" associations for North Europeans with a higher HG (=low dopamine) component like the Balts and Scandinavians? And a more "vivid" (high dopamine) associations for Southern Europeans with a higher farmer component? Or is this to far-fetched?

You must have ESP; I was thinking of posting about this in reply when I got the chance. :) It doesn't seem too far fetched to me.

What these researchers were noting seems like "correlation" to me, not "causation". Why would living at high latitudes select for ADHD? Also, yes, lack of sunlight leads to depression in some people, but that's a different thing entirely from real clinical depression, and "cured" as soon as the sun shines again. The clinical depression leads to all sorts of related disorders too, like alcoholism and suicide.

I can't find it right now, but a paper I read in the last few years or so found that these same snps and disorders showed up at higher levels among the remaining hunter-gatherers in Africa compared to the people descended from the Bantu farmers.

The Han Chinese, on the other hand, the most "farmer" population in the world, I think, has far fewer of these snps and traits even though they live at relatively high latitudes.

Certainly, every paper I've seen tracking ADHD, clinical depression, alcoholism, suicide etc. shows a lower incidence in southern Europe than in northern Europe.
 

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