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View Full Version : The Genetic History of Northern Europe - Another Begemoth DNA study on Baltics



arvistro
03-03-17, 20:46
http://biorxiv.org/content/biorxiv/early/2017/03/03/113241.full.pdf

Recent ancient DNA studies have revealed that the genetic history of modernEuropeans was shaped by a series of migration and admixture events betweendeeply diverged groups. While these events are well described in Central andSouthern Europe, genetic evidence from Northern Europe surrounding theBaltic Sea is still sparse. Here we report genome-wide DNA data from 24 ancientNorth Europeans ranging from ~7,500 to 200 calBCE spanning the transitionfrom a hunter-gatherer to an agricultural lifestyle, as well as the adoption ofbronze metallurgy. We show that Scandinavia was settled after the retreat of theglacial ice sheets from a southern and a northern route, and that the firstScandinavian Neolithic farmers derive their ancestry from Anatolia 1000 yearsearlier than previously demonstrated. The range of Western EuropeanMesolithic hunter-gatherers extended to the east of the Baltic Sea, where thesepopulations persisted without gene-flow from Central European farmers untilaround 2,900 calBCE when the arrival of steppe pastoralists introduced a majornot peer-reviewed) is the author/funder. It is made available under a CC-BY-NC-ND 4.0 International license.bioRxiv preprint first posted online Mar. 3, 2017; doi: http://dx.doi.org/10.1101/113241. The copyright holder for this preprint (which was2shift in economy and established wide-reaching networks of contact within theCorded Ware Complex.

Still to read, but so far no N in Baltics.

Angela
03-03-17, 22:31
From the paper:

"The two samples from Karelia cluster with previously published Mesolithic EHG."

"EHG carry a genetic component (green component in Fig. 2b) that is maximized in hunter-gatherers from the Caucasus (CHG) and shared with Neolithic farmers from Iran and Steppe populations from the Bronze Age, suggesting some common ancestry for these populations, consistent with previous results21."

"Despite its geographically vicinity to EHG, the eastern Baltic individual associated with the Mesolithic Kunda culture shows a very close affinity to WHG in all our analyses, with a small but significant contribution from EHG or SHG, as revealed by significant D-statistics."

"Neither the Kunda individual nor SHG exhibit the major ADMIXTURE component shared between EHG and CHG (green in Figure 2b), bringing into question a direct contribution of EHG into the Mesolithic individuals from Scandinavia and the eastern Baltic. However, using qpWave we cannot reject the previously published result of SHG being formed by admixture of WHG and EHG 6."

"Both EHG and SHG share a non-negligible component in ADMIXTURE analysis that is maximized in some modern Native American populations which points towards ancient North Eurasian ancestry, as represented by the MA1 and AG3 samples from Palaeolithic Siberia13 (crimson component in Fig. 2a). Indeed, D-statistics show that EHG and SHG share significantly more alleles with MA1 and AG3 than both Baltic and Western HG (Supplementary Information Table S9). Additionally, mtDNA haplogroups found among EHG point toward an eastern influence: R1b in UzOO77 was previously found in the Palaeolithic Siberian AG35 and a haplogroup related to branches within the C1 clade, which appears today in highest frequencies in northeast Asia and the Americas, was described in several samples from Yuzhnyy Oleni Ostrov24,25. Furthermore, in SHG the derived variant of the EDAR allele was discovered, which is found today in high frequency in East Asians and Native Americans4 ."

"In contrast to EHG and SHG, Kunda can be modelled as directly derived from WHG (p=0.18) (Supplementary Information Table S6). The almost complete absence of the additional ancestry shared by SHG and EHG to the south of the Baltic Sea suggests that it was brought into Scandinavia via a northern route through Finland and admixed in Scandinavia with a WHG-like population that derived from a migration northward over the land-bridge that connected Denmark and southern Sweden at the time, a scenario that is in concordance with the archeological record."

"The results for the Kunda individual are mirrored in the four later eastern Baltic Neolithic hunter-gatherers of the Narva culture...That Narva individuals derive directly from Kunda without additional admixture cannot be rejected (p=0.12), however it can also be accounted for by admixture of Kunda with either EHG, SHG or WHG (Supplementary Information Table S4). Specifically we see a greater proportion of possible admixture into the two samples excavated at the more eastern site Kretuonas (13±3% EHG or 33±7% SHG) than into the two Narva individuals from the more western sites."

"all our Baltic foragers carry the derived HERC2 allele which codes for light iris color, and like SHG and EHG they already possess an increased frequency of the derived alleles for SLC45A2 and SLC24A5, coding for lighter skin color (Extended Data Table 2)."

"The Narva individual Spiginas1 (dated to ca. 4440–4240 cal BCE) belongs to a mitochondrial haplogroup of the H branch providing the first direct evidence that this branch was present among European foragers without gene-flow from farmers (Extended Data Table 1). Notably, in addition to haplogroup H, the maternal lineages seen in eastern Baltic samples (n=31; Extended Data Figure 5) encompass all of the major haplogroups identified in complete mtDNA genomes from Holocene Scandinavian and western European hunter-gatherers (n=21:U2, U5a, U5b) 12, as well as haplogroup U4 which has been found in high frequency in Mesolithic foragers from Russia24 and K1, a derivate of the U8 branch found in Scandinavian foragers."

"We see in Baltic foragers no genomic evidence of gene-flow from Central European farmers or any Y-chromosomal or mitochondrial haplogroups that are typical for them, suggesting that any traces of agriculture and animal husbandry in the Baltic Early and Middle Neolithic were due to local development or cultural diffusion."

Anyone have a link to what kind of agriculture, if any, that would be?

"The individuals associated with the Early Neolithic TRB culture (EN TRB) cluster with Middle and Early Neolithic farmers from Europe on the PCA (Fig. 2A) and in the ADMIXTURE analysis exhibit the component maximized in Levantine early farmers (orange component in Figure 2b). The statistic D(EN_TRB, Middle Neolithic Central Europe; X, Mbuti) does not yield significantly positive results and EN TRB can be modeled as derived from a single source identical with Middle Neolithic (MN) Central Europe."

"All Baltic Late Neolithic (LN) individuals (ca. 3,200 to 1,750 calBCE) fall in PCA space in the diffuse European LNBA cluster formed by individuals admixed between Early and Middle Bronze Age (EMBA) pastoralists from the Yamnaya culture of the eastern Pontic Steppe and Middle Neolithic European farmers (Fig. 2A) and carry the genetic component that was introduced into Europe with this pastoralist migration (green in Fig. 2B)."

"we see novel mitochondrial haplogroups (I, J, T2, W), not found in the preceding foragers, in half of our samples (Extended Data Figure 5), and I2a Y-chomosomal haplogroups replaced by R1a types (Supplementary Information Section 3, Extended Data Table 1). qpWave estimates that the Baltic LN samples, when analysed as a population, are consistent with being derived from the same source as Central European CWC samples."

"Analysed individually, however, this model is rejected for three LN samples: Gyvakarai1 and Plinkaigalis242, which is dated to the very beginning of the LN, are instead consistent with being derived from the same source as EMBA Steppe pastoralists...which corresponds with their ADMIXTURE profiles that lack the early farmer component also missing in EMBA Steppe samples (orange component in Fig. 2b). Coinciding with this steppelike genetic influx is the first evidence of animal husbandry in the eastern Baltic15, suggesting import of this technology by an incoming steppe-like pastoralist population independent of the agricultural societies that were already established to the south and west."

This might be what the other paper was getting at in talking about other avenues for CHG in northeastern Europe than just CWC? So, CWC as a farming group with some animal husbandry, and an earlier pastoral group?

"Furthermore, the individual Spiginas2, which is dated to the very end of the Late Neolithic, has a higher proportion of the hunter-gatherer ancestry, as seen in ADMIXTURE (darker blue component in Fig. 2b), and is estimated to be admixed between 78±4% Central European CWC and 22±4% Narva."

That's part of the reason that modern north east Baltic populations are more WHG than the CWC people. I've been saying that for I don't know how long. There was also gene flow from more "southern" groups.

"Direct evidence of this exists in the Baltic BA sample that appears as an outlier on the PCA, falling within the larger European LNBA cluster instead of the tight Baltic BA cluster (Fig. 2a) and archaeological evidence supports that the site Kivutkalns, which is represented by eight of our individuals, was a large bronze-working center located on a trade route that opened to the Baltic Sea on the west and led inland following the Daugava river31. The Baltic BA was furthermore the first eastern Baltic population to show an increased frequency of the derived LCT allele, which is responsible for lactase persistence, i.e. the ability to digest unprocessed dairy (Extended Data Table 2). This rise in frequency could be due to either gene-flow carrying the allele into the region or a strong positive selection for this phenotype."

"The individual from Olsund in north-eastern Sweden was dated to the Late Neolithic (ca. 2,600 to 2,100 calBCE) when agriculture had been introduced to the coastal areas of Northern Sweden with the Battle Axe Culture, the regional variant of the CWC, while foraging persisted as an important form of subsistence...Baltic BA as a single source for either modern Lithuanians or Estonians is rejected (Supplementary Information Table S4). The statistic D(Lithuanian, Baltic_BA; X, Mbuti) reveals significant positive results for many modern Near Eastern and Southern European populations which can be caused by Lithuanians having received more genetic input from populations with higher farmer ancestry after the Bronze Age (Supplementary Information Table S8). As this applies to nearly all modern populations besides Estonians, especially for Central and Western Europe, limited gene-flow from more south-western neighbouring regions is sufficient to explain this pattern."

"In contrast, the statistic D(Estonian, BA_Baltic; X, Mbuti) gives the most significant positive hits for East Asian and Siberian populations (Supplementary Information Table S8) as previously suggested2 . This might be connected to the introduction of the Y-chromosomal haplogroup N that in Europe is found in highest frequencies in Finland and the eastern Baltic states, and in similar high frequencies in the Uralic speaking populations of the Volga-Ural region36. The spread of N into north-eastern Europe was proposed to have happened with speakers of Uralic languages from the east who contributed to the male gene pool of eastern Baltic populations and left linguistic descendants in the Finno-Ugric languages Finnish and Estonian37,38. As we do not see Y-haplogroup N in any of the male samples from Lithuania and Latvia dated as late as 230 calBCE we propose that this element was brought into the gene pool of the more southern region of the Baltic coast after the Late Bronze Age."

Ed. Wow, I got carried away. :) Well, for those not interested in any more detail, now you don't have to read the whole paper and supplement, which is much longer!

arvistro
03-03-17, 22:59
I am in desperate need for visualization of all those new data and samples with dates and Y-dna and autosomal components :)

holderlin
03-03-17, 23:22
Nope nevermind

holderlin
03-03-17, 23:30
Looks like Baltic WHG may have been more depigmented than EHG, on average. This might explain why the Steppe didn't show widespread depigmentation until after admixture with North and Central Europe.

Angela
03-03-17, 23:36
I am in desperate need for visualization of all those new data and samples with dates and Y-dna and autosomal components :)

The Admixture Chart on page 19 helps. (It makes more sense to me than the one in the Estonian paper, but I'm still not sure about the amount of CHG that they find at early periods, before, of course, it would have been brought by large numbers of "Caucasus" wives.)

I can't seem to get it to post here. All someone would have to do is add the date, place, yDna and mtDna if they're interested.

Fire Haired14
04-03-17, 00:16
Both Narva guys had I2a1. Interestingly one had NorthEast European-specific "Saami" mHG U5b1b1a. Also one Narva sample surprisingly had mHG H11a, today it's European-specific.

Fire Haired14
04-03-17, 00:21
Notes how suddenly in the Bronze age mHG H, lactose persistence, and light skin come to dominate. Is that a coincidence? I don't think so, I think natural selection caused all that to happen and I think it happened most of Europe during the same time period.

arvistro
04-03-17, 00:45
Some other hints on developments after BA in Baltics:

"Gene-flow into the eastern Baltic after the Bronze AgeDespite the close clustering of modern eastern Baltic populations with Baltic BA onthe PCA plot and Lithuanians and Estonians exhibiting the highest allele sharing forancient Baltic populations with any modern population (Extended Data Figure 2),Baltic BA as a single source for either modern Lithuanians or Estonians is rejected(Supplementary Information Table S4). The statistic D(Lithuanian, Baltic_BA; X,Mbuti) reveals significant positive results for many modern Near Eastern andSouthern European populations which can be caused by Lithuanians having receivedmore genetic input from populations with higher farmer ancestry after the Bronze Age(Supplementary Information Table S8). As this applies to nearly all modernpopulations besides Estonians, especially for Central and Western Europe, limitedgene-flow from more south-western neighbouring regions is sufficient to explain thispattern. In contrast, the statistic D(Estonian, BA_Baltic; X, Mbuti) gives the most significantpositive hits for East Asian and Siberian populations (Supplementary InformationTable S8) as previously suggested2. This might be connected to the introduction of theY-chromosomal haplogroup N that in Europe is found in highest frequencies inFinland and the eastern Baltic states, and in similar high frequencies in the Uralicspeaking populations of the Volga-Ural region36. The spread of N into north-easternEurope was proposed to have happened with speakers of Uralic languages from theeast who contributed to the male gene pool of eastern Baltic populations and leftlinguistic descendants in the Finno-Ugric languages Finnish and Estonian37,38. As wedo not see Y-haplogroup N in any of the male samples from Lithuania and Latviadated as late as 230 calBCE we propose that this element was brought into the genepool of the more southern region of the Baltic coast after the Late Bronze Age."

Dagne
04-03-17, 06:37
It looks like that the farmer gene input in Bronze Age Lithuania is due to "considerable mobility and a network of contacts throughout the range of the CWC" that allowed farmer genes to spread eastwards "possible through exogamous marriage practices" rather than influx of another farmer mixed CWC from the steppe.
At least that is how I read the study (p.10)

Fire Haired14
04-03-17, 08:39
New post at my blog; More ancient Eastern European mtDNA (http://mtdnaatlas.blogspot.com/2017/03/more-ancient-eastern-european-mtdna.html)

bicicleur
04-03-17, 08:46
It looks like that the farmer gene input in Bronze Age Lithuania is due to "considerable mobility and a network of contacts throughout the range of the CWC" that allowed farmer genes to spread eastwards "possible through exogamous marriage practices" rather than influx of another farmer mixed CWC from the steppe.
At least that is how I read the study (p.10)



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

bicicleur
04-03-17, 08:50
Both Narva guys had I2a1. Interestingly one had NorthEast European-specific "Saami" mHG U5b1b1a. Also one Narva sample surprisingly had mHG H11a, today it's European-specific.

archeology said Kunda and Narva were Swiderian-derived
untill all that R1a and R1b was found

bicicleur
04-03-17, 09:01
Looks like Baltic WHG may have been more depigmented than EHG, on average. This might explain why the Steppe didn't show widespread depigmentation until after admixture with North and Central Europe.

what remains is to find out is why depigmentation was favoured by nature

Fire Haired14
04-03-17, 10:20
Looks like Baltic WHG may have been more depigmented than EHG, on average. This might explain why the Steppe didn't show widespread depigmentation until after admixture with North and Central Europe.

I kind of agree. Some hunter gatherers and EEF farmers could have been pretty pale. Natural selection definitely played a part though.

Tomenable
04-03-17, 11:51
Links:

http://biorxiv.org/content/early/2017/03/03/113241

http://biorxiv.org/content/biorxiv/early/2017/03/03/113241.full.pdf

http://biorxiv.org/content/biorxiv/suppl/2017/03/03/113241.DC1/113241-1.pdf

http://i.imgur.com/IBCr24x.png

Y-DNA haplogroups:


Supplementary Information Section 3

Y chromosomal haplogroup analysis

We were able to determine the Y chromosomal haplogroup by examining a set of
diagnostic positions on chromosome Y using the ISOGG database (http://isogg.org/,
accessed in 2016 March). In order to perform this analysis, we restricted our analysis
to only include reads with a mapping quality higher than 30. Afterwards, we
determined the haplogroups by identifying the most derived Y chromosomal SNP in
our individual.

Spiginas1 could be assigned as I2a1a2a1a based on L233:G→A (2x). This individual
also has one upstream mutations for haplogroup I2a1a2a (L1286: G→A at 1x) and
one mutation for I2a1 (PF4004: T→C at 1x) and I2a (L460: A→C at 1x).

Kretuonas2 has a derived allele at I2a1b1:C→T, however only with coverage of 1x.
Due to missing significance at that position we are not confident in this assignment.
We were however able to find multiple upstream mutations assigning this individual
to I2a1b (CTS176, CTS1293, CTS1802, CTS5375, CTS7218, and S2702). We are
confident that the placement of this sample in Y chromosomal haplogroup I2a1b is
correct.

Gyvakarai1 could be assigned as R1a1a1b based on S441:G→A (6x) and
S224:C→T (3x). This individual also has two upstream mutations for haplogroup
R1a1a1 (M417 and Page7) and multiple mutations for R1a1a (M515, M198, L168,
M512, and L449) and R1a1 (PF6234, M459, and M448). We are confident that the
placement of this sample in Y chromosomal haplogroup R1a1a1b is correct.

Kunila2 has a derived allele at R1a1a1b:C→T, however only with coverage of 1x.
Due to missing significance at that position we are not confident in this assignment.
We were able to find one upstream mutation assigning this individual to R1a1a1
(Page7: C→T at 1x), two mutations assigning this individual to R1a1a (M198:C→T
at 2x and M512:C→T at 1x) and one mutation to R1a1 (PF6234: C→T at 1x).

Spiginas2 could be assigned as R1a1a1b based on S441:G→A (3x). This individual
also has multiple upstream mutations for haplogroup R1a1a (M515, L168, M512,
M514, L449), R1a1 (PF6234 and L120) and R1a (L63 and L146).
Olsund could be assigned as R1a1a1b based on S441:G→A (3x). This individual
also has multiple upstream mutations for haplogroup R1a1a (M515, L168 and L449),
R1a1 (M459) and R1a (L63 and PF6175).

Turlojiske3 could be assigned as R1a1a1b based on S441:G→A (1x). This individual
also has one upstream mutation for haplogroup R1a1a (L168:A→G at 1x), R1a1
(PF6234:C→T at 2x) and R1a (L62 and L63).

Kivutkalns19 could be assigned as R1a1a1b based on S441:G→A (4x) and
S224:C→T (1x). This individual also has two upstream mutations for haplogroup
R1a1a1 (M417 and Page7) and two mutations for R1a1a (M515 and L449) and R1a1
(PF6234 and M459). We are confident that the placement of this sample in Y
chromosomal haplogroup R1a1a1b is correct.

Kivutkalns25 could be assigned as R1a1a1b based on S441:G→A (3x). This
individual also has one upstream mutation for haplogroup R1a1a1 (M417) and two
mutations for R1a1a (M515 and L449) and R1a1 (M516 and M459). We are
confident that the placement of this sample in Y chromosomal haplogroup R1a1a1b is
correct.

Kivutkalns194 has a derived allele at R1a1a-L168:A→G. We were able to find one
upstream mutation assigning this individual to R1a (L62:A→G at 2x) and one
mutation assigning this individual to R1 (P286: C→T at 2x).

Kivutkalns209 has a derived allele at R1a1a1-Page7:C→T, however only with
coverage of 1x. Therefore we are not convinced that this represents the truth assigning
this individual to R1a1a1, due to missing significance at that position. We were
however able to find two upstream mutation assigning this individual to R1a1a
(M515: T→A at 1x, L168:A→G at 4x) and multiple mutations assigning this
individual to R1a1 (PF6234, L120 and M459). We are confident that the placement of
this sample in Y chromosomal haplogroup R1a1a is correct.

Kivutkalns222 has a derived allele at R1a1a1-M417:G→A, however only with
coverage of 1x. Therefore we are not convinced that this represents the truth assigning
this individual to R1a1a1, due to missing significance at that position. We were able
to find one upstream mutation assigning this individual to R1a1a (M512: C→T at 1x),
one mutation assigning this individual to R1a1 (M459:A→G at 1x) and one mutation
to R1a (L62: A→G at 4x) and are confident with an assignment to R1a1.

Due to low coverage no assignment could be made for Popovo2.

Light skin + light eyes among Baltic hunters:


Similar to the other Mesolithic hunter-gatherers, all our Baltic foragers carry the
derived HERC2 allele which codes for light iris color, and like SHG and EHG they
already possess an increased frequency of the derived alleles for SLC45A2 and
SLC24A5, coding for lighter skin color (Extended Data Table 2).

But no any N1c haplogroup was found:


The spread of N into north-eastern
Europe was proposed to have happened with speakers of Uralic languages from the
east who contributed to the male gene pool of eastern Baltic populations and left
linguistic descendants in the Finno-Ugric languages Finnish and Estonian37,38. As we
do not see Y-haplogroup N in any of the male samples from Lithuania and Latvia
dated as late as 230 calBCE we propose that this element was brought into the gene
pool of the more southern region of the Baltic coast after the Late Bronze Age.

No N1c in Baltic Corded Ware culture:


Based on the available markers (Table 2) all five individuals could be confidently assigned to hg R and none to hg N, which is a highly common haplogroup in modern Estonians (31%)

Alpenjager
04-03-17, 12:02
Both Narva guys had I2a1. Interestingly one had NorthEast European-specific "Saami" mHG U5b1b1a. Also one Narva sample surprisingly had mHG H11a, today it's European-specific.

If haplogroup IJ is known to be linked to mtDNA U and C1 is linked to mtDNA M all of them found in Pre-Neolithic populations of Europe. Then, H11a is the first evidence of genetic influx of a 3th group of European HGs (xP) comming from the South, probably HGs from the Balkans. And I will bet for LT, perhaps L2. In fact, L2 is found among modern Baltic populations.

Alpenjager
04-03-17, 13:16
"We see in Baltic foragers no genomic evidence of gene-flow from Central European farmers or any Y-chromosomal or mitochondrial haplogroups that are typical for them, suggesting that any traces of agriculture and animal husbandry in the Baltic Early and Middle Neolithic were due to local development or cultural diffusion."

However, there is a extremely differentiated lineage: H11a. who could has something to do with these traces of domestication.

Tomenable
04-03-17, 14:07
These Baltic Bronze Age samples are the most lactose tolerant ancient population we have so far.

Tomenable
04-03-17, 14:13
Notes how suddenly in the Bronze age mHG H, lactose persistence, and light skin come to dominate. Is that a coincidence? I don't think so, I think natural selection caused all that to happen and I think it happened most of Europe during the same time period.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.

Fire Haired14
04-03-17, 14:29
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.

MarkoZ
04-03-17, 15:01
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.

Fire Haired14
04-03-17, 15:51
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!! (http://mtdnaatlas.blogspot.com/2016/12/natural-selection-did-it.html).

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.

Fire Haired14
04-03-17, 16:00
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...
http://s2.quickmeme.com/img/f7/f7be5f9e45d8ec2fda05e4a95286692ea0c0c1ec40eb873af1 f4ff8d1dfd2b10.jpg

johen
04-03-17, 16:13
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 classesJust curiosity, that is why HG/Nomad were smarter, isn't it?

MarkoZ
04-03-17, 16:15
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!! (http://mtdnaatlas.blogspot.com/2016/12/natural-selection-did-it.html).

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.

MarkoZ
04-03-17, 16:22
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.

Fire Haired14
04-03-17, 16:32
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.

Angela
04-03-17, 16:46
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.

Fire Haired14
04-03-17, 16:49
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.

Fire Haired14
04-03-17, 16:55
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?

Angela
04-03-17, 17:31
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/article/21/5/671/565175/Evolutionary-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.

Dagne
04-03-17, 18:01
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%20and%20Yuasa%20pdf.pdf

MarkoZ
04-03-17, 18:04
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?

LeBrok
04-03-17, 18:14
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?

LeBrok
04-03-17, 18:19
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.

LeBrok
04-03-17, 18:24
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.

Tomenable
04-03-17, 19:18
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/spreadsheets/d/1sUEn8VzWv-48bCXQHaOSrFqLmdaewuc4jiiBipNtjls/edit#gid=2051444765

http://mtdnaatlas.blogspot.com

holderlin
04-03-17, 20:10
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.

Angela
04-03-17, 20:10
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 (https://twitter.com/razibkhan) 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!!!"

8539

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:
http://4.bp.blogspot.com/-t_KXpJ8f80w/Ulbx5NVzpmI/AAAAAAAAJLE/4ygZg4byqIc/s1600/timeline.jpg

holderlin
04-03-17, 20:16
archeology said Kunda and Narva were Swiderian-derived
untill all that R1a and R1b was found I don't know that the two facts are exclusive to each other. A good example would be Dneiper Donets and Samara. One is almost all EHG, yet the other is WHG during the same time. The archaeology is virtually indistinguishable.

All of these new papers on the Baltic are supportive of what appears to be a significant degree of cultural homogeneity from Scandinavia to the Urals during the Mesolithic. "Kunda-Swiderian" is more valid than ever. We have shared male and female lines all over the place and shared lithics. The only autosomal differences appear to be varying amounts of ANE.

Tomenable
04-03-17, 20:30
theories of blonde nordics seeding bronze age non-european civilizations can't be correct

I have never heard about such theories* of blonde nordics seeding Non-European civilizations, except for Indo-Iranians. And in the case of Indo-Iranians these theories actually seem to be correct, based on SNPs from Andronovo-Sintashta.

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

*I'm not counting Genetiker and his "wee hwuites wuz Inca kangz in Peru" claims.

holderlin
04-03-17, 20:51
OK, so to be clear, LCT is an example of positive selection. This is not a controversial "theory".

@firehaired and @markoz are confused as to what exactly they are arguing about.

I blame MarkoZ

Angela
04-03-17, 20:54
Tweet from Iosif Lazaridis:

"The Scythians of the eastern steppe were seemingly derived from Yamnaya and East Eurasian ancestors And not from temporally closer Sintashta/Andronovo populations that carried EEF ancestry Similar to present-day South Asians who are best modelled with Early/Middle Bronze Age steppe not Andronovo/Sintashta."

holderlin
04-03-17, 21:09
Tweet from Iosif Lazaridis:

"The Scythians of the eastern steppe were seemingly derived from Yamnaya and East Eurasian ancestors And not from temporally closer Sintashta/Andronovo populations that carried EEF ancestry Similar to present-day South Asians who are best modelled with Early/Middle Bronze Age steppe not Andronovo/Sintashta."
The more I consider this the more interesting it becomes to me, and it makes perfect sense looking at the vast expanse of Yamnaya/Afanasevo. Sintashta and Andronovo are a thousand years later and they look like latter expansions of CWC that brought Central Euro autosomes with them.

ANI and Iranians would then be direct descendants of Yamnaya, rather than latter steppe cultures. Yamnaya spoke Indic, not PIE.

johen
04-03-17, 21:23
The more I consider this the more interesting it becomes to me, and it makes perfect sense looking at the vast expanse of Yamnaya/Afanasevo. Sintashta and Andronovo are a thousand years later and they look like latter expansions of CWC that brought Central Euro autosomes with them.

ANI and Iranian would then be direct ancestors of Yamnaya, rather than latter steppe cultures. Yamnaya spoke Indic, not PIE.
I think it was impossible, b/c broze age steppe people was classified with Paleo-type people, so called cromagnoid. It means their head size was bigger than now.

3,000year ago the Afakan-indian type skulls were found in human sacrifice pit of shang dynasty in China, which are small like now:
https://robertlindsay.files.wordpress.com/2010/03/02567-headsizeandlatitude.gif

holderlin
04-03-17, 21:25
I think it was impossible, b/c broze age steppe people was classified with Paleo-type people, so called cromagnoid. It means their head size was bigger than now.

3,000year ago the Afakan-indian type skulls were found in human sacrifice pit of shang dynasty in China, which are small like now:
https://robertlindsay.files.wordpress.com/2010/03/02567-headsizeandlatitude.gif I don't quite know what you're getting at, but I edited that post. "Ancestors" was a mistake. I meant "descendants".

holderlin
04-03-17, 21:27
http://www.eupedia.com/forum/images/misc/quote_icon.png Originally Posted by holderlin http://www.eupedia.com/forum/images/buttons/viewpost-right.png (http://www.eupedia.com/forum/showthread.php?p=502897#post502897)
The more I consider this the more interesting it becomes to me, and it makes perfect sense looking at the vast expanse of Yamnaya/Afanasevo. Sintashta and Andronovo are a thousand years later and they look like latter expansions of CWC that brought Central Euro autosomes with them.

ANI and Iranian would then be direct descendants of Yamnaya, rather than latter steppe cultures. Yamnaya spoke Indic, not PIE.

MOESAN
04-03-17, 23:16
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/article/21/5/671/565175/Evolutionary-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.


Interesting and I agree for the most -
but concerning depigmentation, the latitude doesn't seem the only factor because we see very southern 'caucasoid' pops having very high % of the derived alleles too, spite in sunny lands (even without serious IE input)- the super-depigmentation (+ hair and eyes colour) only seems separating North and South as a whole, so I'm still a bit puzzled concerning not the reality fo selection, but its mode

Fire Haired14
05-03-17, 01:48
@MarkoZ,

You're right we shouldn't assume that two populations who are similar genetically similar also have similar frequencies in phenotype related SNPs. Narva and Western European HGs are a good example. But...when the same phenotype SNPs are popular across all of modern Europe, among populations who are pretty different genetically, and were rare in all samples from earlier Europeans who are modern Europeans' ancestors, natural selection is the only explanation.

mHG H may be popular everywhere in Europe because of migration. I feel less strongly about natural selection favoring mHG H that than I do about natural selection favoring depigmentation and lactose persistence. The Eastern Baltic specifically may have a lot of light skin and lactose persistence because of migration but IMO that's certainly not the case for all of Europe. And if they're popular in the Eastern Baltic because of migration, the ancestors of Bronze age Eastern Balts who lived somewhere else in Europe had a high frequency of those phenotype traits because of natural selection.


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.

Agreed.


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.

mtDNA and color are unrelated. Once genomes from all over Late Neolithic and Bronze age Europe are sequenced we'll know what happened. The data we have from Iron age England indicates depigmentation mutations rose in frequency in the last 2,000 years, and could explain why Tacitus said some British tribes are swarthy and some were fair.

Tone
05-03-17, 03:15
The data we have from Iron age England indicates depigmentation mutations rose in frequency in the last 2,000 years, and could explain why Tacitus said some British tribes are swarthy and some were fair.

First off, I have no idea if it's natural selection or founder/population replacement that is driving lighter skin in Europe, but here's something to consider about England: Yes it's true that the English have become depigmented over the past two thousand years (and more), but also England has been invaded and settled numerous times by peoples from Germany/Scandinavia during this time. The first we know of were the Anglos, Saxons, and Jutes in 400 AD from the Netherlands up through Denmark. In 800 AD, England was again invaded and settled by immigrants from Scandinavia (the Dane Law lands). Then again in 1066 England was invaded by the Normans from France, who were descended from Scandinavian settlers a century earlier. And these were just the invasions during historical times. There were probably others from the Bronze Age up through 1 AD.

Anyhow my point is that England appears to become depigmented over time. However, it was invaded by genetically similar, yet most likely fairer, people in several mass waves over the past several millennium. And because the immigrants were extremely similar genetically, it only seems that natural selection is going on. And yes, there might be some natural selection going on (ie "My Fair Lady" or "Who's the fairest one of all?") but most likely it was invasion that brought the depigmentation genes to England en mass, and in a similar way, to all of Europe over the past thousand years. Maybe it's a classic 80/20 thing, meaning 80% invasion/replacement and 20% selection. ;)

Again, I'm just a layman on an internet forum so I don't know. It's just fun to theorize. :wary2:

Ukko
05-03-17, 03:28
Ironically the Finns and Estonians are the fairest.

LeBrok
05-03-17, 03:34
First off, I have no idea if it's natural selection or founder/population replacement that is driving lighter skin in Europe, but here's something to consider about England: Yes it's true that the English have become depigmented over the past two thousand years (and more), but also England has been invaded and settled numerous times by peoples from Germany/Scandinavia during this time. The first we know of were the Anglos, Saxons, and Jutes in 400 AD from the Netherlands up through Denmark. In 800 AD, England was again invaded and settled by immigrants from Scandinavia (the Dane Law lands). Then again in 1066 England was invaded by the Normans from France, who were descended from Scandinavian settlers a century earlier. And these were just the invasions during historical times. There were probably others from the Bronze Age up through 1 AD.

Anyhow my point is that England appears to become depigmented over time. However, it was invaded by genetically similar, yet most likely fairer, people in several mass waves over the past several millennium. And because the immigrants were extremely similar genetically, it only seems that natural selection is going on. And yes, there might be some natural selection going on (ie "My Fair Lady" or "Who's the fairest one of all?") but most likely it was invasion that brought the depigmentation genes to England en mass, and in a similar way, to all of Europe over the past thousand years. Maybe it's a classic 80/20 thing, meaning 80% invasion/replacement and 20% selection. ;)

Again, I'm just a layman on an internet forum so I don't know. It's just fun to theorize. :wary2: No problem with this. I also noted that Bronze Estonians could have been a replacement population, however it couldn't have come from far away. The epicenter of white mutations/migration/consolidation and LP seems to be around Baltic Sea.

MOESAN
05-03-17, 17:29
First off, I have no idea if it's natural selection or founder/population replacement that is driving lighter skin in Europe, but here's something to consider about England: . And because the immigrants were extremely similar genetically, it only seems that natural selection is going on. And yes, there might be some natural selection going on (---) but most likely it was invasion that brought the depigmentation genes to England en mass, and in a similar way, to all of Europe over the past thousand years. Maybe it's a classic 80/20 thing, meaning 80% invasion/replacement and 20% selection. ;)

Again, I'm just a layman on an internet forum so I don't know. It's just fun to theorize. :wary2:

I agree: it' always the problem of geneticians studying several pops in the same place but in different times and calculating "natural selection" (as you said it exists) over an ideal pop that never eixsted because the different times saw different pops, at least in part - it recalls me the American surveys about Americans citizens evolution considering the pre-cow-boys times pops as identical to today USA citizens: rubbish -
that said ir seems to me that very often people mix the blond/bue/pinky question with the more spred fair skin principal mutations -
I think that if fair skin had so much success it's because it was genetically (chromosomes) or individually (chromose statistically "linked" to mtDA by instance) linked to other davantages than the only solar exposure question (since a long time human beings had found solutions to sun problems - what % of skin surface is exposed? - and we have only to look at Fire Land Indians or Inuits to understand this) - and today North-Africans are a melting pot with a lot of SSA females, same question with Yemenites - if a survey studied today French citizens without origins discrimination, what could they find for natural selection evolution in time?

Angela
05-03-17, 18:11
I think the point of the chart which I posted upthread and which had pigmentation snps for the ancient inhabitants of Baltic area is being missed. Even after the arrival of the Corded Ware types, pigmentation was very variable in the area, with some of the samples not possessing the most common de-pigmentation snps even in the Bronze Age.

I know of no invasion of "fairer" people into the Baltics which can explain the change to modern frequencies that occurred at the earliest in the Iron Age and perhaps even later.

8540

berun
05-03-17, 18:15
@Firehaired, you use to make conclusions with partial data, so you don't get the real pictrure (if it's that what you look at). IIRC some 30-40% individuals from Ante Portam Latinam in the Basque Country had LT. They were Calco people...........

Angela
05-03-17, 18:27
@Firehaired, you use to make conclusions with partial data, so you don't get the real pictrure (if it's that what you look at). IIRC some 30-40% individuals from Ante Portam Latinam in the Basque Country had LT. They were Calco people...........

Indeed, if those results are correct, the ancient Balts do not have the highest incidence. We still don't know when LP first expanded or its track.

Ukko
05-03-17, 19:31
I think the point of the chart which I posted upthread and which had pigmentation snps for the ancient inhabitants of Baltic area is being missed. Even after the arrival of the Corded Ware types, pigmentation was very variable in the area, with some of the samples not possessing the most common de-pigmentation snps even in the Bronze Age.

I know of no invasion of "fairer" people into the Baltics which can explain the change to modern frequencies that occurred at the earliest in the Iron Age and perhaps even later.

8540


The Uralic N males started breeding farms for the local women they took as concubines. They sold the end products called orja in to the European and world market.



Some Uralic humor for the conquering Indo-Europeans. :grin:



I have to wonder why the skin mutations are the biggest topic here, the historical and cultural impact of the late arriving of N raises much bigger questions.
But still, Finns and Estonians are the fairest. :grin:
Where is that "Polish Ragnar" when I so want him to be here..

Angela
05-03-17, 21:35
The Uralic N males started breeding farms for the local women they took as concubines. They sold the end products called orja in to the European and world market.



Some Uralic humor for the conquering Indo-Europeans. :grin:



I have to wonder why the skin mutations are the biggest topic here, the historical and cultural impact of the late arriving of N raises much bigger questions.
But still, Finns and Estonians are the fairest. :grin:
Where is that "Polish Ragnar" when I so want him to be here..

If you think that's funny, you're mistaken.

If you think any of this pigmentation business is important, you're also mistaken about that.

A sense of pride in one's ancestors should come from an honest appraisal of their character and accomplishments, the things they've given to humanity. Of course, the first and most important source of pride should be what one has or will accomplish as a unique human being, and what kind of human being one will become.

LeBrok
05-03-17, 22:10
If you think that's funny, you're mistaken.

If you think any of this pigmentation business is important, you're also mistaken about that.

A sense of pride in one's ancestors should come from an honest appraisal of their character and accomplishments, the things they've given to humanity. Of course, the first and most important source of pride should be what one has or will accomplish as a unique human being, and what kind of human being one will become.
Nail on a head, Angela!

Ukko
05-03-17, 23:51
If you think that's funny, you're mistaken.

If you think any of this pigmentation business is important, you're also mistaken about that.

A sense of pride in one's ancestors should come from an honest appraisal of their character and accomplishments, the things they've given to humanity. Of course, the first and most important source of pride should be what one has or will accomplish as a unique human being, and what kind of human being one will become.


You have problems with reading comprehension? I questioned the fixation on the the skin mutations on the debate running here when there are larger questions the papers raise.

Indo-European studies and discussions are full of similar shit that I used for making a joke, when talking about IE these theories are usually not humor..

I agree with you somewhat on the serious part but your views are typical of a modern humanist.
I have a different world view than you, I think it is also more popular than your ideological approach on "common humanity".

Fire Haired14
06-03-17, 00:36
You have problems with reading comprehension? I questioned the fixation on the the skin mutations on the debate running here when there are larger questions the papers raise.

What fixation? I mentioned Lactose Tolerance and depigmentation became fixated in the Bronze age probably because of natural selection, then Tomenable and Markoz argued natural selection didn't cause it, then I a. The paper isn't a game changer, there isn't much to discuss. Narva and Kunda were basically WHG, Comb Ceramic was basically EHG, then Corded Ware and R1a-Z645 came, Bronze age Balts were a mixture of Corded Ware and Narva and some farmer stuff.

Ukko
06-03-17, 00:58
What fixation? I mentioned Lactose Tolerance and depigmentation became fixated in the Bronze age probably because of natural selection, then Tomenable and Markoz argued natural selection didn't cause it, then I a. The paper isn't a game changer, there isn't much to discuss. Narva and Kunda were basically WHG, Comb Ceramic was basically EHG, then Corded Ware and R1a-Z645 came, Bronze age Balts were a mixture of Corded Ware and Narva and some farmer stuff.

Every mutation is part of natural selection, some get chosen, others dont, we can agree to agree.

My point was that Northern Europeans dont usually debate skin pigmentation as a primary point, we discuss who brought what in our largely shared culture that formed at this time.

Angela
06-03-17, 02:02
You have problems with reading comprehension? I questioned the fixation on the the skin mutations on the debate running here when there are larger questions the papers raise.

Indo-European studies and discussions are full of similar shit that I used for making a joke, when talking about IE these theories are usually not humor..

I agree with you somewhat on the serious part but your views are typical of a modern humanist.
I have a different world view than you, I think it is also more popular than your ideological approach on "common humanity".

I'm proud of being a humanist, and there's nothing "modern" about it. You could say humanism as a philosophy has been around since the Renaissance, but I think it goes all the way back to ancient Greece. In a sense, you could say Christ was the first humanist, so being a Christian humanist makes complete sense, which is what I used to be...

If their accomplishments, what they've contributed to human knowledge and empowerment and enrichment is not what you're proud of about your ancestors, or their stirling and admirable characters, then what is it?

As for "pigmentation" discussions (or skull or nose or whatever), it seems to me that this is the preoccupation of I don't know how many internet sites, sites I don't frequent or join for that very reason. It also seems to me that this is behind a lot of the interest in "population genetics" in the amateur community, whether they admit it on more respectable sites or not. We certainly don't obsess about it here, certainly not if you're talking about Fire-Haired or me. In fact, other than as purely a matter of academic interest, the majority of the time that I have discussed it here has been to refute ridiculous claims by various "Nordicist" type posters very anxious to claim their descent from what they consider to be "fairer" groups, even if they're not always northern Europeans themselves. It seems to me you're making claims about us that anyone who has really spent much time here would know are incorrect.


Ukko:My point was that Northern Europeans dont usually debate skin pigmentation as a primary point, we discuss who brought what in our largely shared culture that formed at this time.

Well, that's good to know, so perhaps I misjudged your initial post. You could have, however, made that point clear to me in a less aggressive and, frankly, "crude" manner initially, as you did just now. Also, sorry, but the "joke" is still not at all funny to me. You have a perfect right to make it; I'm not "triggered" and shrinking into the fetal position here. :) I think the stuff going on in American Universities today is a disgrace. However, maybe if you just tried to put yourself in a woman's shoes for a minute, you'd see why it might not be funny to a woman.

Ukko
06-03-17, 03:39
I'm proud of being a humanist, and there's nothing "modern" about it. You could say humanism as a philosophy has been around since the Renaissance, but I think it goes all the way back to ancient Greece. In a sense, you could say Christ was the first humanist, so being a Christian humanist makes complete sense, which is what I used to be...

If their accomplishments, what they've contributed to human knowledge and empowerment and enrichment is not what you're proud of about your ancestors, or their stirling and admirable characters, then what is it?

As for "pigmentation" discussions (or skull or nose or whatever), it seems to me that this is the preoccupation of I don't know how many internet sites, sites I don't frequent or join for that very reason. It also seems to me that this is behind a lot of the interest in "population genetics" in the amateur community, whether they admit it on more respectable sites or not. We certainly don't obsess about it here, certainly not if you're talking about Fire-Haired or me. In fact, other than as purely a matter of academic interest, the majority of the time that I have discussed it here has been to refute ridiculous claims by various "Nordicist" type posters very anxious to claim their descent from what they consider to be "fairer" groups, even if they're not always northern Europeans themselves. It seems to me you're making claims about us that anyone who has really spent much time here would know are incorrect.



Well, that's good to know, so perhaps I misjudged your initial post. You could have, however, made that point clear to me in a less aggressive and, frankly, "crude" manner initially, as you did just now. Also, sorry, but the "joke" is still not at all funny to me. You have a perfect right to make it; I'm not "triggered" and shrinking into the fetal position here. :) I think the stuff going on in American Universities today is a disgrace. However, maybe if you just tried to put yourself in a woman's shoes for a minute, you'd see why it might not be funny to a woman.


Americans and other colonials are often fixated on skin as they have little other connection to their ancestral lands, this might not be the case here and the discussion just drifted in to that.

The main point was the input of the Uralic in to European Russia, Baltics and Scandinavia.

Ancient Athens was predominantly composed of slaves, the "humanist" upper class had time to philosophize for this reason.
Christian faith was spread in Northern Europe by sword and mass murder, church did a good job in trying to wipe out the indigenous cultures of the region.

I sincerely apologize if I offended you, that was not the intention but to ridicule the die hard IE crowd that often dismisses the Uralic influence in Europe.

holderlin
06-03-17, 06:33
Jesus
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.
.
..
..

holderlin
06-03-17, 06:39
@firehaired I wasn't saying that pigmentation genes are in the mtDNA. I was taking a guess at what you were getting at, which was that mtH women with fair features may have been the primary vehicle of LCT.

Tomenable
06-03-17, 11:37
Comments on the origin of light skin pigmentation (from Anthrogenica):

http://www.anthrogenica.com/showthread.php?9870-Extensive-farming-in-Estonia-started-through-a-sex-biased-migration-from-the-Steppe&p=217541&viewfull=1#post217541


The presence of derived SLC45A2 allele in both European Mesolithic hunter-gatherers and Neolithic farmers makes one wonder where exactly the derived version of this allele originated? Did it originate at one point in the past among a certain population or did it come about a number of different times in different populations? Probably impossible to know at this point.

I would go with northern European Mesolithic hunter-gatherers. If it had come from the south we should seen some of the so called Basal in European Mesolithic hunter-gatherers.

Don't early Neolithic farmers from Greece also carry the derived allele at SLC45A2? They likely never had any contact with Eastern or Northern European Mesolithic hunter-gatherers.

They probably had since all of them - including the Anatolian ones - have some WHG related ancestry.

Another option is that light skin originated among the ANE (Afontova Gora).

Genetiker wrote that ANE samples from Afontova Gora carried derived alleles.

Tomenable
06-03-17, 11:47
Americans and other colonials are often fixated on skin as they have little other connection to their ancestral lands.

Apart from their light skin, also the ability to drink milk reminds them of their ancestral lands.

Note that Baltic Corded Ware is the most lactose tolerant ancient population we know of so far.

Edit: Berun which is your source about that lactose tolerant ancient Basque population?

Ukko
06-03-17, 12:15
Apart from their light skin, also the ability to drink milk reminds them of their ancestral lands.

Note that Baltic Corded Ware is the most lactose tolerant ancient population we know of so far.

Edit: Berun which is your source about that lactose tolerant ancient Basque population?


Btw, Finns are the most lactose tolerant today, based on a study I can try to google if interested?

MarkoZ
06-03-17, 12:57
Let's stick to the data:

(a) phenotypic distriubtion of lactase persistence, (b) distriubtion of the T−13910 allele:

http://d1vn86fw4xmcz1.cloudfront.net/content/royptb/366/1566/863/F1.large.jpg?width=800&height=600&carousel=1

Source: http://rstb.royalsocietypublishing.org/content/366/1566/863D

Skeletal evidence of actual milk consumption from the Bronze Age onwards:

http://www.nature.com/article-assets/npg/srep/2014/141127/srep07104/images/m685/srep07104-f1.jpg

Source: http://www.nature.com/articles/srep07104


Lactase persistence in Neolithic Iberia, via Dienekes: http://dienekes.blogspot.de/2012/01/lactase-persistence-in-neolithic-iberia.html


. In this study, we have investigated lactase persistence of 26 out of 46 individuals from Late Neolithic through analysis of ancient South-West European DNA samples, obtained from two burials in the Basque Country originating from 5000 to 4500 YBP. This investigation revealed that these populations had an average frequency of lactase persistence of 27%, much lower than in the modern Basque population, which is compatible with the concept that Neolithic and post-Neolithic evolutionary pressures by cattle domestication and consumption of dairy products led to high lactase persistence in Southern European populations. Given the heterogeneity in the frequency of the lactase persistence allele in ancient Europe, we suggest that in Southern Europe the selective advantage of lactose assimilation in adulthood most likely took place from standing population variation, after cattle domestication, at a post-Neolithic time when fresh milk consumption was already fully adopted as a consequence of a cultural influence.

Expredel
06-03-17, 14:39
I sincerely apologize if I offended you, that was not the intention but to ridicule the die hard IE crowd that often dismisses the Uralic influence in Europe.
Some people may simply lack mutations responsible for a sense of humor.

I think it's obvious that many populations contributed positive mutations to the European gene pool, including Uralics.

Angela
06-03-17, 15:34
Some people may simply lack mutations responsible for a sense of humor.

I think it's obvious that many populations contributed positive mutations to the European gene pool, including Uralics.

And some for civility and good manners.

Of course, the context from which this unknown person posting anonymously on an internet genetics site was operating should have been known to me. After all, it's unheard of for racist, misogynist men to post on such sites. (Joke, get it?)

Why don't you take a page from Ukko's book and learn some manners. That goes for Holderlin too. No more profanity either. I've had enough of it. This isn't the corner bar.

Let me tell you, buddy, I could make some "jokes" with men as the subject which wouldn't sit very well with you either. It's been my experience that it's a very deflating experience for them. A lot of men can dish it out but they absolutely can't take it.

Now get back to facts, and by facts I don't mean some of the usual contests men so love to engage in of the my group's better than yours variety.

@Ukko,
Not American colonial as you can see.

Angela
06-03-17, 15:44
Let's stick to the data:

(a) phenotypic distriubtion of lactase persistence, (b) distriubtion of the T−13910 allele:

http://d1vn86fw4xmcz1.cloudfront.net/content/royptb/366/1566/863/F1.large.jpg?width=800&height=600&carousel=1

Source: http://rstb.royalsocietypublishing.org/content/366/1566/863D

Skeletal evidence of actual milk consumption from the Bronze Age onwards:

http://www.nature.com/article-assets/npg/srep/2014/141127/srep07104/images/m685/srep07104-f1.jpg

Source: http://www.nature.com/articles/srep07104


Lactase persistence in Neolithic Iberia, via Dienekes: http://dienekes.blogspot.de/2012/01/lactase-persistence-in-neolithic-iberia.html

Thanks for getting us back to facts, Marko.

There's a paper tracking the T-13910 allele to central Europe, but it was a while ago so I don't know if it's still valid.

Anyway, there certainly seems to have been another cluster of it in ancient samples, this time in southwestern Europe.

We still don't have the really comprehensive study of it in Europe that would probably clarify things.

Just for completeness given the maps, according to this paper there is some T-13910 in Africa, but there are also other alleles which confer lactase persistence. Selection for it seems to be present in widely scattered herding cultures.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4700599/

See also:
http://www.cell.com/AJHG/abstract/S0002-9297(14)00067-6

"“We were able to infer an East African origin for the C-14010 variant, a NE [Northeast] African origin for the G-13907 variant, and a Middle Eastern origin of the G-13915 variant,” wrote Penn’s Alessia Ranciaro in an e-mail to The Scientist. “We demonstrate that analysis of the geographic distribution of the LP variants are highly informative for reconstructing historic migration events and to trace the history of pastoralism in Africa.”

"“If you think about the frequency of a particular allele, it’s very tempting to assume that the place where that allele is found most frequently is the place where it originated. But the problem is that you don’t really know where the ancestors of those people who are living there now were living then,” she said. “One of the issues [that] is particularly relevant to pastoralist people is that they might move around a lot, they migrate.”
http://www.the-scientist.com/?articles.view/articleNo/39420/title/Origins-of-Lactase-Persistence-in-Africa/

Fire Haired14
06-03-17, 21:14
Btw, Finns are the most lactose tolerant today, based on a study I can try to google if interested?

Let's forget about language. Genetically Finns and Estoias are Northern European with tint of Siberian. So of course they have the same mutations which natural selection favored.

ThirdTerm
06-03-17, 22:39
Here we investigate the frequency of an allele (-13910*T) associated with lactase persistence in a Neolithic Scandinavian population. From the 14 individuals originally examined, 10 yielded reliable results. We find that the T allele frequency was very low (5%) in this Middle Neolithic hunter-gatherer population, and that the frequency is dramatically different from the extant Swedish population (74%).

https://static-content.springer.com/image/art%3A10.1186%2F1471-2148-10-89/MediaObjects/12862_2009_Article_1305_Fig3_HTML.jpg
Figure 3

Only one of the ten PWC individuals showed a presence of the T allele, a heterozygote, and the allele frequency for the T allele is 0.05 (1/20, with the exact 95% CI values 0.001265089 to 0.2487328, Figure 3). The T allele frequency in the PWC population differs significantly from the T allele frequency in the contemporary Swedish population (n = 97, Fisher's Exact test, p < 0.0001), where the frequency of the T allele is 0.74 (144/194, with the exact 95% CI values 0.6747198 to 0.8022533, Figure 3).


Lactose tolerance spread among Europeans thanks to the Yamnaya migration from southern Russia. A previous study by Malmström et al. (2010) found that 95% of European hunter-gatherers in Sweden lacked an allele (-13910*T) associated with lactase persistence. Lactose tolerance was still rare among Europeans and Asians at the end of the Bronze Age.


Do you have a source for the bolded statement, Third Term? So far as I know Yamnaya didn't have LP to any appreciable degree.

See:
Allentoft et al: https://lup.lub.lu.se/search/publication/7486934

Iain Mathiesen et al: http://genetics.med.harvard.edu/reichlab/Reich_Lab/Datasets_files/nature16152.pdf

There is a Bell Beaker individual in central Europe who carried it, but it's very unclear from whom it can be sourced.

Regardless, there was very little of it even by the end of the Bronze Age, so very late selection indeed.


The source is "Population genomics of Bronze Age Eurasia" by Allentoft et al. (2015). Co-author Martin Sikora said: 'Previously the common belief was that lactose tolerance developed in the Balkans or in the Middle East in connection with the introduction of farming during the Stone Age. But now we can see that even late in the Bronze Age the mutation that gives rise to the tolerance is rare in Europe. We think that it may have been introduced into Europe with the Yamnaya herders from Caucasus but that the selection that has made most Europeans lactose tolerant has happened at a much later time.'




The results for rs4988235, which is associated with lactose tolerance, were surprising. Although tolerance is high in present-day northern Europeans, we find it at most at low frequency in the Bronze Age (10% in Bronze Age Europeans; Fig. 4), indicating a more recent onset of positive selection than previously estimated34. To further investigate its distribution, we imputed all SNPs in a 2 megabase (Mb) region around rs4988235 in all ancient individuals using the 1000 Genomes phase 3 data set as a reference panel, as previously described12. Our results confirm a low frequency of rs4988235 in Europeans, with a derived allele frequency of 5% in the combined Bronze Age Europeans (genotype probability.0.85) (Fig. 4b). Among Bronze Age Europeans, the highest tolerance frequency was found in Corded Ware and the closely-related Scandinavian Bronze Age cultures (Extended Data Fig. 7). Interestingly, the Bronze Age steppe cultures showed the highest derived allele frequency, in particular the Yamnaya (Extended Data Fig. 7), indicating a possible steppe origin of lactose tolerance.

berun
06-03-17, 23:05
Apart from their light skin, also the ability to drink milk reminds them of their ancestral lands.

Note that Baltic Corded Ware is the most lactose tolerant ancient population we know of so far.

Edit: Berun which is your source about that lactose tolerant ancient Basque population?

Samples are older than the Bell Beakers in the area:


In this study, we have investigated lactase persistence of 26 out of 46 individuals from Late
Neolithic through analysis of ancient South-West European DNA samples, obtained from two burials in the Basque Country
originating from 5000 to 4500 YBP. This investigation revealed that these populations had an average frequency of lactase
persistence of 27%, much lower than in the modern Basque population, which is compatible with the concept that Neolithic
and post-Neolithic evolutionary pressures by cattle domestication and consumption of dairy products led to high lactase
persistence in Southern European populations. Given the heterogeneity in the frequency of the lactase persistence allele in
ancient Europe, we suggest that in Southern Europe the selective advantage of lactose assimilation in adulthood most likely took
place from standing population variation, after cattle domestication, at a post-Neolithic time when fresh milk consumption was
already fully adopted as a consequence of a cultural influence.

from "Low prevalence of lactase persistence in Neolithic South-West Europe"

Angela
06-03-17, 23:20
Lactose tolerance spread among Europeans thanks to the Yamnaya migration from southern Russia. A previous study by Malmström et al. (2010) found that 95% of European hunter-gatherers in Sweden lacked an allele (-13910*T) associated with lactase persistence. Lactose tolerance was still rare among Europeans and Asians at the end of the Bronze Age.

Do you have a source for the bolded statement, Third Term? So far as I know Yamnaya didn't have LP to any appreciable degree.

See:
Allentoft et al: https://lup.lub.lu.se/search/publication/7486934

Iain Mathiesen et al: http://genetics.med.harvard.edu/reichlab/Reich_Lab/Datasets_files/nature16152.pdf

There is a Bell Beaker individual in central Europe who carried it, but it's very unclear from whom it can be sourced.

Regardless, there was very little of it even by the end of the Bronze Age, so very late selection indeed.

MarkoZ
07-03-17, 13:56
Just for completeness given the maps, according to this paper there is some T-13910 in Africa, but there are also other alleles which confer lactase persistence. Selection for it seems to be present in widely scattered herding cultures.

Yes, interestingly Central Africa is the place where all four as yet identified alleles coding for lactase persistence converge, suggesting that milk consumption was supremely important for survival in this biome. However, it doesn't look like there was a huge founder effect like in Arabia and Northern Europe - another reason to believe that North European frequencies aren't the result of in situ selection.

http://1.bp.blogspot.com/-xaTlgI7MHxM/Uy9irIiS28I/AAAAAAAACb4/AbjvZppvONw/s1600/AfrianLP.png



There's a paper tracking the T-13910 allele to central Europe, but it was a while ago so I don't know if it's still valid.

I think the general consensus up until a few years ago was that T-13910 surged with the LBK migration to Central Europe from the Balkans. The ultimate origin is a bit more complex, as becomes obvious when you compare the Sahel desert haplotype to its European counterpart. Overall, the African haplotypes look like they are closer to the ancestral haplotype - in fact it actually appears that the European haplotypes are under the African ones. See the upper left branch in this tree:


http://i.imgur.com/Akqco6i.png


A detailed breakdown of the haplotype background associated with the LCT regions of various populations - with some singificant limitations due to the choice of sampled populations (no Anatolians, Balkanics) - can be found here, confirming the derived nature of European LCT: http://www.cell.com/cms/attachment/594489/4599871/mmc1.pdf

My interpretation (don't take it too literally) is that the first haplotypes that have T-13910 are found in Africa, closely followed by Central Asians. With a general Neolithic age associated with T-13910, it makes you wonder how it got into Europe.

bicicleur
07-03-17, 15:00
Looking at the maps, I'd say lactose persistence spread into Africa when first herders arrived there during or right after the 8.2 ka climate event.
These herders were mainly Natufians who had left their farms during the drought and adopted herding.
Later farmers came to Africa as well.

But if so, lactose persistence would have been there since 8 ka.
My first guess is probably not correct.

epoch
30-03-17, 20:37
what remains is to find out is why depigmentation was favoured by nature

HG's formed a clade from dark (La Brana) to light when going north. That is still the case nowadays, only the distribution of lighter skin has now moved to far lower altitudes. That could be due to higher sensitivity for vitamin D deprivation due to the switch to Neolithic life style

MOESAN
30-03-17, 21:46
what if the the mutation was among some megalithers (partly future first genuine BB's?) or these first BB's, both in contact with North Africa, and if one of them (megalithers or BB's) were responsible for the first spreading before positive selection: BBs rovered Atlantic and North Sea from Maghreb to Scandinavia, as did surely some of the megalithers, perhaps spanning a long enough time and not in an eye blink; I avow it's only an hypothesis which doesn't please me too much -

epoch
30-03-17, 21:52
what if the the mutation was among some megalithers (partly future first genuine BB's?) or these first BB's, both in contact with North Africa, and if one of them (megalithers or BB's) were responsible for the first spreading before positive selection: BBs rovered Atlantic and North Sea from Maghreb to Scandinavia, as did surely some of the megalithers, perhaps spanning a long enough time and not in an eye blink; I avow it's only an hypothesis which doesn't please me too much -

What the exact vectors were remains to be seen. However, the clear evolutionary pressure for lighter skin means that whatever vector brought the change, the change stuck and expanded.