July 03, 2012

Indo-European genetic signatures in an Orcadian and a Lithuanian

In the Bronze Age Indo-European invasion of Europe, I argued that:

  • A West_Asian genetic component is missing from ancient DNA sampled from Europe as recently as ~5,000 years ago.
  • This component exists at appreciable frequencies in modern Europeans, reaching minima in non-Indo-European Basques and Finns.
  • It is likely that the West_Asian component manifested itself in Europe post-5kya, during the Copper and Bronze Ages, and was associated with the bearers of Indo-European languages.
Of course, the West_Asian component is an abstraction created from a study of modern populations. To better understand the identity of this component, I undertook a simple experiment using the (not yet released) K5c and K8c calculators of the Dodecad Project. The are equivalent to the weac2 and K7b calculators released so far by the Project, but make use of the new Pagani et al. (2012) data on East Africa, hence the appearance of an "East_African" component at K=7 pushing back the appearance of the West_Asian component to K=8.

K5c captures the "West Eurasian cline" between the Near East and Europe, and includes the following components:


  • East_Eurasian
  • South_Asian
  • Atlantic_Baltic
  • Near_East
  • African

We can say that the Atlantic_Baltic corresponds to northern Caucasoids, while the Near_East one to southern Caucasoids.

K8c includes the following components:
  • Atlantic_Baltic
  • West_Asian
  • Siberian
  • Southern
  • South_Asian
  • West_African
  • East_Asian
  • East_African
This differs from the previous one in the appearance of the Siberian and East_African components, as well as the aforementioned West_Asian one within West Eurasia.

Naturally the question arises: what can we say about the origin of West_Asian ancestry in modern Europeans? How is it related to other populations? How is it related to the northern and southern Caucasoids?

To answer these questions, I isolated an Orcadian individual (HGDP00794) and used the DIYDodecad byseg mode to construct a local ancestry map of this individual with sliding windows 500 SNP long, advanced by 50 SNPs.

In essence, this procedure assigns ancestry to local regions of the genome, and can hence be used to identify, e.g., regions with an excess of West_Asian or any other component.

I decided to use an Orcadian for this purpose, since Orcadians are Indo-European speakers from northwestern-most Europe who can be reasonably thought to have minimum admixture in historical times from groups other than (i) the pre-Indo-European substratum, (ii) Celto-Germanic superstratum which dominates western Europe.

Over 3,126 total segments, I calculated the correlation between the K5c and the K8c components:

It is clear that the K=8 West_Asian segments of the Orcadian individual correspond to the K=5 South_Asian (+0.36) and Near_East (+0.29) segments. 

The negative correlation with the K=5 Atlantic_Baltic (-0.4) component further indicates that in genomic regions where the Orcadian has West_Asian segments, there is a deficiency of Atlantic_Baltic ancestry; we can be fairly sure that these segments are not the result of common partial descent of Orcadians and West Asians from a northern Caucasoid population.

I have also repeated the above experiment, but with a Lithuanian individual (GSM536635). Lithuanians are surrounded by Indo-European and Finno-Ugric speakers, and are also relatively unlikely to have experienced other gene flow in more recent times:


The same general pattern emerges, with the K=8 West_Asian segments corresponding to K=5 Near Eastern and South Asian segments.

CONCLUSION

Chunks of DNA in an Orcadian and a Lithuanian that are labelled West_Asian tend to be related to populations of the Near East and South Asia. 

It seems fairly clear that a post-5kya link between the North Atlantic and the Indian subcontinent admits to a single parsimonious explanation: the expansion of the Indo-Europeans out of their West Asian homeland during the Copper and Bronze Ages.

49 comments:

German Dziebel said...

Dienekes,

As per our discussion (http://dienekes.blogspot.com/2012/07/proto-indo-european-and-north-caucasian.html), you need to clarify for the sake of the gullibles of the world (http://blogs.discovermagazine.com/gnxp/2012/07/has-dienekes-pontikos-found-the-signature-of-the-indo-europeans/) that your pseudo-"West Asian" (a "Caucasian" in reality) component doesn't indicate a new Near Eastern origin of Indo-Europeans but is instead fully consistent with the good old Pontic steppe/Kurgan theory of Indo-European origin. The fact that the Caucasian component is modal in the modern mountain and not in the modern steppe populations is easily explained as the effect of conservation of ancient steppe diversity in the adjacent mountain refugium.

Dienekes said...

The West_Asian component is not "a "Caucasian" in reality", because its maximum extent stretches from the Caucasus to Balochistan. The Caucasus is one of its two peaks, the other being Balochistan, with very high occurrence in all regions in-between.

As for the idea that the West_Asian component was part of ancient steppe diversity and survives in the Caucasus as a refugium, this ignores the issue that this component stretches a long way from the Caucasus, and it's a strange refugium indeed that occupies pretty much the entire territory of West Asia all the way to Pakistan.

German Dziebel said...

First of all, Balochistan, where the component peaks, too, in addition to the Caucasus, is occupied mostly by Indo-Iranians, which is branch of Indo-European historically strongly associated with the steppe. Second, Balochistan is another mountainous region, hence a refugium. Look at any traditional map of Indo-European dispersals from the Pontic steppe and you'll see that Indo-Europeans could plausibly spread the "Caucasian" component pretty widely around from Western Europe to West Asia from a single Pontic steppe location. Third, linguists have been talking about areal influences between Proto-Indo-European and North Caucasian languages for a while (from Uhlenbeck on, at least), so, again the Pontic steppe/North Caucasus is precisely the area where they could've picked up everything from grammatical features to genes from a Caucasian source. But this doesn't mean, by any stretch of imagination, that Indo-Europeans originated from West Asia.

You provided so far the best confirmation of the Kurgan theory from a genetics perspective. Congratulations, soldier!

Dienekes said...

Your model makes no sense, since it supposes that Indo-Europeans spread from the steppe and their genetic legacy disappeared on the steppe. What kind of nonsensical model has the genetic legacy of the steppe population persisting in Balochistan and disappearing from the steppe? That's easy: the type of model that can be thought of by a guy who thinks that humans originated in the Americas.

You provided so far the best confirmation of the Kurgan theory from a genetics perspective. Congratulations, soldier!

Of course, in your twisted mind the discovery that a West Asian distributed component may be implicated in IE dispersals proves that the homeland was in the Eastern European steppe.

Welcome to ban-land, soldier!

jeffhsu3 said...

Dienekes, two papers recently discussed the evolutionary history of the 17q21.31 complex haplotypes in Nature Genetics, which you've previously discussed from another earlier paper: http://dienekes.blogspot.com/2010/04/age-and-origin-of-17q21-inversion-in.html. Steinberg et. al support the ancient age of H2 and suggest that the H2 haplotype is ancestral to all humans. The H2 'inverted' haplotype is not present in Africans or East Eurasians (with the exception of African Hunter Gatherers), suggesting at least two independent bottlenecks/founder effects/drift to remove this haplotype from those groups since Neanderthals and Denisova are predicted to have the H1 variant, and therefore is not introgressed. More interestingly both papers show that the duplications in H1 and H2 have a recent coalescent date ~20,000 in Europe. Dienekes, does the H1D or H2D correlate with the West Asian component? Could your "Indo-Europeans" be the source of this spread in Europe? The Boettger et. al (Nature Genetics 2012) paper shows that it is possible to get a good imputation of the structual haplotypes from SNPs, so ascertaining 17q21.31 status from SNP data is doable. Since you've binned the genome and assigned ancestral status already it would be interesting to see if the 17q21.31 region is west asian and then assign the 17q21.31 structual haplotypes from the SNPs.

Michael Russell said...

Well German, in this discussion, I'm certainly one of the gullibles in the world, not having much background in the field. But I am taking away from this post that there was quite possibly some (Ancient) Near Eastern component to the Indo-Europeans who spread out across Europe.... because that's what the results say.
I'm happy to be corrected, by being told that the K=5 Near_East component could not have included those from the Ancient Near East (like the Sumerians). But in the absence of such a correction, it seems to be a simple matter of reading the tables in front of us, wouldn't you say?

Ponto said...

So, you are saying that the Indo-European speakers invaded Europe, and various regions of Asia, in large enough numbers to leave a genetic signature in those invaded regions and their language, but they themselves were eventually absorbed into the autochthonous populations of Europe and Asia?

And their signature is "West Asian" which shows up as either "South Asian" or "Near Eastern" in certain North European ethnic groups? Well, South European have large amounts of these "Southern" components, what about them?

Dienekes said...

So, you are saying that the Indo-European speakers invaded Europe, and various regions of Asia, in large enough numbers to leave a genetic signature in those invaded regions and their language, but they themselves were eventually absorbed into the autochthonous populations of Europe and Asia?

Yes.

And their signature is "West Asian" which shows up as either "South Asian" or "Near Eastern" in certain North European ethnic groups? Well, South European have large amounts of these "Southern" components, what about them?

Yes, it shows as "West Asian" at one resolution and the same segments show up as "Near East" and "South_Asian" at another.

As for Southern Europeans, I'm sure they have also been affected by that migration, but since in their case they had more opportunity for gene flow with West Asia in historical times than Orcadians or Lithuanians did, it is probably more difficult to make such a compelling case.

newtoboard said...

Thanks for banning this German Dziebel character. The West Asian component in most of these West Asians and Indo-Iranian populations is Neolithic. Its found at 40% in Indian tribals even. Second it is from the Caucasus either South or North. The Caucasus is not the homeland of anything. The Caucasus was settled from West Asia a region in this case encompassing Western iran, Anatolia and Mesopotamia. Why label this component Caucasus when it is not from the Caucasus?

Second the Indo-Europeans were likely a mix of Northern European elements with North Caucasian elements (which might have had Southern component elemtns too but I doubt it). This would explain West Asian admixture in Europe and Northern European admixture among Indo-iranians imo.

Third uralics have nothing to do with mtdna U. The corresponding ydna would be I or R1 imo. N1c is younger than R1a in Europe. And it came from Siberia. Mtdna U is widespread and found in populations without ydna N. The Sami prove nothing. As I recall most of their U5 belongs to one subclade that is restricted to them.

Justin said...

So you are saying that IE basically came from Iran then? Ancient Iranian DNA?

Banning German seems personal.

bmdriver said...

When did ANI become west asian?

Fanty said...

Dienekes sees Caucasians (Whites, Europides, Aryans or whatever one wants to call them) as beeing mainly subivided into Northern ones and Southern ones.

And the component that is likely to be the Indoeuropean one, the one he calls "West Asian" belongs to the Southern branch of it, not to the Northern branch of Caucasian/White/Europid/Aryan, because the same component is interpreted as "Middle Eastern" or "South Asian" at lower K rates.

Well, while this doesnt absolutely pinpoint the starting point of the indoeuropean migration, it quiet clearly suggests to what kind of people they seem to have belonged.

I made an image for optical people. With a little wink. ;-)

http://s16.postimage.org/bia9kmcwl/Schaubild.jpg

Dienekes said...

I made an image for optical people. With a little wink. ;-)

That's actually not a bad drawing (minus the pictures), but I would add Slavic to the Celtic/Germanic arrow, and add another arrow for the Romans who probably mediated a south->north flow followed by the indicated north->south flow as the Empire collapsed.

Dienekes said...

Also, you should put Xabi Alonso somewhere but without an Indo-European arrow :) And probably add Zinedine Zidane and some random Siberian hunter for a little completeness in the picture.

aspromavro said...

I would add Slavic to the Celtic/Germanic arrow

Have you heard about Florin Curta? The latest scholarship considers Slavs a Byzantine invention.

Dienekes said...

I have heard of him, but I haven't glanced at his book in years.

Slavs are very coherent both linguistically and genetically -despite obvious admixtures in their three branches from neighboring/substrata groups. I have little doubt that they share a rather recent common ancestry which has influenced/been influenced by other European groups.

Ponto said...

Fanty's illustration is not that good using unidentified images of modern humans to represent ancient humans no longer living anywhere in Europe or Asia. Light pigmentation in Europe is supposed to be about 8,000 years old, so we don't really know what exactly those early Europeans looked like. They may have had kinky, black hair, and a sooty complexion with black eyes for all we know. Modern English people are nothing like the illustrated Nordic man.

Fanty said...

Well, there are German Scientists who claim "Germanics" are an invention of Caesar, who knew, after Gaul was conquered, there would be peace and he would stop to be a powerfull military leader, so he needs to invent new dangers and enemies.

Some Germanic mercs fought at his side in Gaul. He rewarded them by declaring them and their kin the greatest danger, the empire ever faced, so please give me more money and armies to genocide them.

Those scientists claim: There are 3 definitions of "Germanic". One is linguistic, one is historic and one is archeological/cultural.

And that some of them arent "Germanic" in all 3 definitions.

Also, its about 7, very different cultures that are herded under the umbrella term "Germanic". These are so extremely different from each others, that Archeologists would never get close to the idea to lump them together to one people if not for the Romans who said, that they are one.

The Celts would be by far more cultural homogenious than the Germans.

And so on blabla.

They claim it on Caesar, who made them look like an united empire, ready to rush onto Rome, rather than a bunch of tribes who prefered to fight each others.

Fanty said...

@Ponto:

I used a Czechian actor as Hunter Gatherer, who was used as an example of a pre-neolithic phenotype on one of those typical forums.

I think that light eye and hair pigmentation is hunter/gatherer connected because if you map the SNP that create light pigmentation in hair and eyes, you get an exact copy of the Lithuanian based component.

(its even so, that the light pigmentation SNPs are at the lowest rate in .... SARDINIA.

Means, its an absolut fact, that light pigmentation genes are connected to that component. And if that component is connected to mesolithic hunter gatherers, then they had been blond and blue eyed.

I used a Lebanese boxer as Farmer and an extraordinary narrow faced Iranian as Indoeuropean (traditionally its claimed Indoeuropeans are extraordinary narrow faced guys)

And of course, no normal Britain looks like this guy. He is "Nordid". The Skull shape that Nazis rated as the master races skull shapes, right inheritated from the Aryans.

Critics claimed, such a skullshape would only 4% od the Germans possess and even in Sweden, where its suposed "all of them are Nordid", reality is, that about 10% have this.

So I didnt picked these images "randomly". I also claimed it, to not taking it fully serious. ;)

Fanty said...

"Light pigmentation in Europe is supposed to be about 8,000 years old"

Well, it must be that 8000 years is a miss-calculation. Except if you think that a Lithuanian centered component migrated all the way over the northern half of Europe in the last 8000 years instead of beeing present in all of Europe and beeing pushed back to northern Europe alone by Farmers and Indoeuropeans.

El Lurker said...

Couldn't this be proving instead the origin of the people who introduced agriculture into Europe?

Perhaps the spread of indo european languages was not genetically that important, and it was something like what happened to the central europeans who noawadays speak Hungarian.

The other issue is that this seems counter intuitive because we have historical records of non indoeuropeans inhabiting anatolia, the caucasus and the iranian plateau, and the indoeuropeans seem to be later migrants into those areas.

Onur said...

Like "Slavs" and "Germanics", "Turkics" (also written as "Turks" or the "Turkic peoples") too is a Roman/Byzantine invention according to the latest scholarship. It was invented by Byzantines to designate peoples speaking languages similar to the language of the Kok Turk (=Turk) Qaghanate irrespective of the tribal affiliation and was later borrowed by Muslim Arabs, Muslim Iranians and Christian Europeans from Byzantines. After the breakup of the Kok Turk Qaghanate, the word "Turk" fell into disuse among who are now called the "Turkic peoples" and would only begin to be used by them again after their entrance to the Muslim and Christian cultural spheres with their conversion to Islam and to the other Abrahamic religions, through borrowing it back (but this time to designate who are now called the "Turkic peoples" and not just the Kok Turks) from Muslims and Christians. The word "Turkmen" is a derivative from the word "Turk" and was invented by Muslim Iranians to designate various what are now called "Turkic" tribes. Later, the Muslim Oghuz people borrowed the word "Turkmen" from Muslim Iranians and exchanged their tribal name "Oghuz" for the new name "Turkmen", probably to distance themselves from the then still non-Muslim Oghuz people. Of note, historically (=before the strong Western influence, beginning from the 19th century), the Chinese never used a word derived from the word "Turk" to designate who are now called the "Turkic peoples", never grouped them together and never used a word to designate them all.

Onur said...

BTW, what I wrote above has nothing to do with genetics. It was just about ethnic, tribal and/or linguistic identities (whether endonymous or exonymous), which are a cultural and/or political matter, not genetic.

Grey said...

Fanty
"And of course, no normal Britain looks like this guy"

The officer class from world war one looked like that.

http://www.ciaofamiglia.com/jcsproule/sproulephotos/Photos-of-JCS/Brig-JCSproule-Retires-Dec-.jpg

There was a pretty distinctive class-based "look" in Britain. *If* there was a celto-german "type" and a pre-existing British/Irish "type" then the upper class may have retained that look through assortative mating while the lower classes mixed and created a hybrid.

My family is like that. In old photographs the side of the family that comes from eastern England look completely different from the side that comes from north Wales. The living relatives are a composite of the two.

(Although it could just be class and diet.)

.
El Lurker
"Couldn't this be proving instead the origin of the people who introduced agriculture into Europe?"

If the Minoans / Etruscans / Sumerians etc were non-IE, were farmers, and were later over-run by IE speakers (or Semitic speakers in the case of the Sumerians) then it seems likely they introduced agriculture first.

I'd have thought the equivalent of the non-IE Hattians in Anatolia who were later conquered by an IE Hittite minority coming from some adjacent region would be the prime candidates for that first wave of agriculturalists with the southern wave IE (if it happened that way) following in their footsteps.

pconroy said...

@Ponto, @Fanty,

Modern English people are nothing like the illustrated Nordic man.

The Modern British "Nordid Type" is the spitting image of my father!

The only difference is he has black hair, and longer ears - more Basque like.

He is the only "Irish" person that I know of in Dienekes' Dodecad Project that is probably 100% Native Irish - NO known Norman, Viking, Scottish, English, German, Huguenot ancestry.

His DNA Tribes results show him as:
51.50% Northwestern European
22.37% Iberian
21.87% Baltic-Urals
3.76% Indus Valley
0.51% Arctic

1. Cornwall West Britain
2. Lithuania
3. West Scotland and Ireland
4. England
5. Orkney Islands Scotland

It's strange that he has Cornwall and Lithuania as 1 and 2, as normally these are well separated in NW or NE European populations...

Fanty said...

If I would have known, that my choise of images starts the third world war, I wouldnt have done anything. :P

bmdriver said...

Dienekes i was wondering if you could answer this question, its off topic, so if you cant, no worries.

Is their a recent Nordic, European ancestry to populations of Arab, berber descent?

aspromavro said...

Slavs are very coherent both linguistically and genetically -despite obvious admixtures in their three branches from neighboring/substrata groups. I have little doubt that they share a rather recent common ancestry which has influenced/been influenced by other European groups.

Except for Balkan Slavs, who share only the language but not genetic ancestry.

Dienekes said...

Except for Balkan Slavs, who share only the language but not genetic ancestry.

That is incorrect, there are clear genetic links between Balkan Slavs and their linguistic brethren.

The extent of this common ancestry has not been quantified yet, but it is clearly present.

Onur said...

It's strange that he has Cornwall and Lithuania as 1 and 2, as normally these are well separated in NW or NE European populations...

Don't take DNA Tribes results too seriously. The DNA Tribes analyses generally lack the precision of the Dodecad and Eurogenes analyses.

Grey said...

Fanty
"If I would have known, that my choise of images starts the third world war, I wouldnt have done anything. :P"

I know there are all sorts of theories about this kind of thing but i wanted to point out there is some *visual* basis for them. The theories may be wrong but in the UK you can (or could) see the difference in physical type by class (and partly by region). It's not as true now but if you look further back to around WW1 and especially if you compare the officers / generals etc to the men i think it's clearly visible.

Onur said...

Aspromavro,

Ethnic, tribal and/or linguistic identities past and present and population genetics are separate issues; we should not confuse the two. The former is within the domain of history whereas the latter is within the domain of genetics. Only genetics can reveal whether and how much the various groups who are now called the "Slavic peoples" have recent genetic links to each other. They may have strong recent genetic links or not, but without genetics we can not find it out.

Antoni Jaume said...

«"Light pigmentation in Europe is supposed to be about 8,000 years old"

Well, it must be that 8000 years is a miss-calculation.
»

Could it be that light pigmentation is a neandertal heritage? (However not redhair, since I've seen the claim that their gene for pheomelanine is different of our)

aspromavro said...

That is incorrect, there are clear genetic links between Balkan Slavs and their linguistic brethren.

Is that based on R1a? It's not clear at all how much (if any) of the Balkan R1a is Slavic, some of it might be but we don't know for sure.

Gregory76 said...

Fanty,
Your chart is pretty good, but the “Nordid” from Britain, who appears to the be Nordic, should be put with the Southern Caucasoids, since Nordic seems to be just a blondized Mediterranean, both of them having long narrow heads, long narrow faces, long narrow noses that are more likely to be convex than concave, slim bodies, etc.—in contrast to the Borreby and Brunn descendents of the Mesolithic hunter-gatherers. I grant that you do show a Southern contribution to the ancestry, too, and I grant that the average northern European is such a mixture of Northern and Southern Caucasoid, but another face should be used. And in fact the face used for the Mesolithic hunter-gatherer might be good one for that, since it has a somewhat convex nose. An ideal picture of one should have a concave nose.
The movements from north to south seem to me to have been of much less importance.
By the way, “Aryan” should be used only for Indo-Europeans. It’s a pity that Nazi abuse of the term led to it to fall in to disfavor. Then again, if one is going to use the word in its original sense, you’d have to restrict it to speakers of Indic languages—and this seems to be the prevailing use today.
As to color, any group in the areas of lowest sunlight should have (relatively) light skin, hair and eyes, providing they were in the area long enough.

libya said...

@El Lurker
We have also historical records of non Celtic languages spoken in Hallstat area (the proto Celtic homeland) and dozens of such examples of language A being attested in the homeland of language B, however Hattian was clearly a (from north of caucasus) transcaucasian North-Caucasic intruder language since there was NOT Hattic internal diversity compared to nearly a dozen of Indo-European languages (from the Anatolic branch) spoken in Anatolia (Luwian, Hittite, Psidian, Lykian, Palaic, Pamphylian, Lydian, Milian, Sidetic, Carian...)
This is similar to English or Mexican or Portuguese i.e clearly homogenous intruder languages vis a vis long established autochtonous Amerindians languages (that is betrayed by the huge internal diversity and great number of Amerindian languages spoken there)

Finally, on another issue, light eye/light hair mutations (wich according to geneticians rose in the Kurdistan area) could occur in populations completly lacking the northeuropean component (for example an Assyrian named Paul Girgas) but the amount of light eye/light hair is very high in northern Europe due to natural selection, since on the snowy grounds of northern Europe blackhaired people were an easy target for predator animals, later even south Europe and Western Europe (lacking permafrost because of gulfstream enchanced warming) did see a dramatical rise of the amount of light hair/light eye peoples after the migrations of various nordic peoples (however still remains pockets like Sardinia wich was not subject to a noteworthy Nordicmen's migrations that retains the original-pre Nordicmen's migrations-south&western European light hair/light eye ratio

libya said...

Erratum
I was to write Spanish (there is no Mexican language or maybe there is a Mexican language but Amerindian)

On another issue, according to their depictions (I have many books showing depictons of Luwians, Lydians...) ancient Anatolic peoples (Luwians, Hittites...) appear to be indistinguishable from modern easternanatolians and westerniranians;
See for example this unibrow Luwian man below (please notice his cranium and also his facial hair that reaches as high as his cheeks) who look very easternanatolian westerniranian (be it Kurdish, Azeri, Assyrian, Persian or Armenian speaker)

http://lh4.ggpht.com/_C0B0C7RtHsU/TVS4jEejWGI/AAAAAAAAA4Q/0fXYZudcXsQ/Kaskuh.jpg

Dienekes said...

@aspromavro

Not R1a in total, most likely R-M458, also pattern of IBD sharing as in

"LD patterns in dense variation data reveal information about the history of human populations worldwide."
S. Myers et al.

http://dienekes.blogspot.com/2011/08/ichg-2011-abstracts-are-onlineic.html

Fanty said...

"Could it be that light pigmentation is a neandertal heritage? (However not redhair, since I've seen the claim that their gene for pheomelanine is different of our)"

If that would be the case, it should be more widespread, because, suposedly, all non-Africans possess the same amount of Neandertal DNA.

When the first mutation for fair eyes was discovered by Danish genetics, they claimed it to be 8K-10K years old and originating in the region Ukraine, Moldawia or Romania.

They claimed, the light pigentation having virtually no advantage, at least not enough to make 70% of all northern Europeans have this mutation in only 8K years. So humans must have enforced its heritage by selection. And he spoke of a possible hunter-gatherer cult/religion centered around the light pigmented hair/eyes or something like that.

I dont know if there are any new theories.

I put the allelefrequencies of 3 SNPs that are involved in low pigmentation and 2 famous 1960s (or so) blond hair and light (non-brown) eye maps on one picture:

http://s8.postimage.org/4ka1tk59h/Light_Pigmentation.png

And now one must keep in mind, that there was a paper on mtDNA, 2 or so years ago, that said, the hunter gatherers refugium is the Baltic states. And even more so, that Finland. And that they retreated there OVER Scandinavia.

Then there is Dienekes experiments wich show, that region has the lowest amounts of Farmer DNA, while the highest amounts of HG DNA.

The other software, that made trees. Claiming the Lithuanian centered component beeing the first to branch away from all the Caucasoid branches.

And finaly Davidskies experiments showing that Baltic DNA is the least compatible to non-european DNA.

For me, its pretty clear, that the light pigmentation of hair and eyes must have a connection to the hunter/gatherer people and that later migrations re-darked the Europeans. So more dark, so more fresh middle eastern blood arrived.

Fanty said...

correction of a typo:
Not "more so that Finland" but "more so thaN Finland"

libya said...

Hi mr Fanty and thank you for your contributions may I ask you 2 questions:
1/how do you explain that individuals completly lacking the Northeuropean component do show light hair&light eyes?

2/Are you aware and if yes what do you think about the study that advocates the Westernasian area as the originplace of light eye mutation (it should also be added that there are different light pigmentation alleles that arose in different places of the world and one of them is light hair mutation in the very sunny and warm Aboigens' Australia wich also shows that there is no need for cold weather to that mutation being enchanced, otherwise populations such as Eskimos Nivkhs Khantys Yakuts Chukchkis should be world top light hair-light eye populaton)?

Here below a link to that article:

http://www.telegraph.co.uk/science/science-news/3323607/Blue-eyes-result-of-ancient-genetic-mutation.html

Fanty said...

@Libya:

You answered your own question:
"(it should also be added that there are different light pigmentation alleles that arose in different places of the world"

Thats why the maps show "...with fair hair and eyes IN EUROPEANS" ;)

These mutations are fair hair and fair eye mutations in Europeans. Its absolutely possible that other people have different damages in their DNA causing the pigmentation aparatus to colapse (and that is, what I think it is: A damage. Thats what makes it recessive. A tendency to become "repaired" if a working piece of DNA is at hand)

Also, we already know that its not a single mutation causing it. You can have several such mutations, all affecting the pigmentation production negatively.

And the answere on this:
"how do you explain that individuals completly lacking the Northeuropean component do show light hair&light eyes?"

First of course, they might have different DNA damage, causing the same symptoms (pigmentation stops working correctly) than the damage that northern Europeans share.

And second:
The "norhern European component" is a collection of mutations, frequently found assembled in a single individium, that show a well pronounced contrast to the mutations assembled in individuals from other regions.
Or so, one needs to imagine such components.

Those damages in the pigmentation aparatus give good contrast, even inside Europe, so I am sure, these SNPs are picked by the software and assigned to the list of SNPs of one or more "components".

But thats only a tiny part of the component. A fracture of a percent most likely.

So even IF, these (European) pigmentation mutations are part of the "Northern European Component" you might have one or more of it, without that showing any "northern European component" in you.

Well, I cant await the scientists to tell us the hair and eye color of the hunter gatherers, they found.

Oetzi was dark haired and brown eyed, as we know from his autosomal DNA.

Lets see if the HGs have low pigmentation mutations.

Ah and one interesting thing, I already mentioned but not in that contrast:

The maps dont have a Sardinian point. But I know from the one who made them, that Sardinia ist the population with the lowest amount of these mutations, even lower than Turkey.

Wich agrees to this map about blond hair in Italy, wich claims Sardinia to be the darkest spot of Italy.

http://3.bp.blogspot.com/_O0-B5c2RcX8/SiuiO8z6HBI/AAAAAAAAANM/fjLGDRG2BCY/s400/blond_hair_italy.gif

Onur said...

Fanty,

According to the study Libya linked, blue eyes of Europeans, West Asians, Central Asians, North Africans and South Asians are all caused by the same mutation, not different mutations for different geoghraphical groups, and that mutation is estimated to have occurred as recently as between 6,000 and 10,000 years ago. Based on these results, the only likely agent of its spread is the Neolithic demographic dispersals from West Asia and thus its most probable source is West Asia.

Fanty said...

@Onur

The study is from 2008, thats pretty ancient in a field where discoveries are made while I type this. ^^

Meanwhile we know better.

There is even a tool that predicts how your eyes do look like, by checking for mutations, that are known to affect the looks of the eyes, in your DNA File. At Gedmatch.

Here is mine:
http://s13.postimage.org/iams4yron/Eyes.jpg

And that is the URL for the predictor (if you have an account and uploaded your DNA File):

http://ww2.gedmatch.com:8006/autosomal/eye_color_pred1.php

As one can see, it comes up with a vey long list of mutations, all affecting the color of my eyes.

Gregory76 said...

Libya said:
“light hair mutation in the very sunny and warm Aboigens' Australia wich also shows that there is no need for cold weather to that mutation being enchanced, otherwise populations such as Eskimos Nivkhs Khantys Yakuts Chukchkis should be world top light hair-light eye populaton)?

I don’t know enough to about the selection mechanisms governing eye color to answer this question, but I know something about the selection mechanisms governing skin color that may be helpful: low amounts of sunlight favor light skin. However, what matters is not how much light the Sun sends to a given part of the Earth, but rather how much is received by the person’s skin. Now the Sun sends less light to the Arctic than to most of northern Europe, but people in the Arctic receive more sunlight than those in most of northern Europe, since the Arctic has no trees and perhaps fewer clouds and less fog, and so Arctic peoples are darker.
Arctic peoples also have darker hair and eyes, so perhaps there is some kind of connection.

Fanty said...

I googled a bit about the light haired Australian natives. The mutation is absolutely different from that mutation that makes Europeans light haired.

So, it must be an independant "development". It also only affects the hair on the head and that of the forearms. All other hair is dark.
Unlike the European mutation, its not recessive, but in some, the hair becomes dark when the people are adult, like with some central European blond mutations. Also indentical to European blond mutations is, that females are more often blond than males. (an effect that possibly created the myth of blond=pure of heart. Children, females and angels/gods are blond. And of course King David (Translation error? Hehe.)

So it seems clear, similiar phenotypical effects can be caused by very different mutations.

On the other hand remains the question: How are the chances for an identical autosomal mutation happening 2 times independently?
I recall those Danish scientists who claimed that blue eye mitation is so unlikely to happen, that it can only happend once in the time that humans exist on the planet, everyone with this mutation must be related.

Well, maybe, but meanwhile we know different mutations, with same phenotypical effect. Is each of them unique and happend only in 1 human and all others got it by heritage? Important questions, if one calculates blood connections between populations by DNA.

And yes, why is there no other place on earth where over 70% of the people are light eyed? For sure there must be another place on earth, where living conditions are similiar to that of northern Europe? Is someone with ligth eyes really so increadable better suited for that climate or is this simply some sort of drift/founder effect or like those Danish scientists mentioned "sexual selection", possibly based on a Cult?

Grey said...

My version of Fanty's pictorial (not to be taken too seriously) but illustrating what if
- there were three starting population blocs: meso-euro, anatolia and transcaucasus
- anatolian first farmers spread west following the coast
- transcaucasus IE conquer the anatolian first farmers and then expand west following their footsteps around the coast
- transcaucasus IE also move to the danube / steppe and expand west by a northern route as well

http://img684.imageshack.us/img684/1625/europep.jpg

Gregory76 said...

Fanty asks:
“…why is there no other place on earth where over 70% of the people are light eyed? For sure there must be another place on earth, where living conditions are similiar to that of northern Europe?”

Cases of relatively light hair and/or eyes are reported among the Indians of the Northwest Coastal culture in North America, and they live in the same type of climate as the people of northwestern Europe (the one sometimes called “Marine Temperate”) notable for its rain and presumably clouds and fog.
So perhaps dark eyes are an adaptation to the glare of the sun, and cloudy, foggy climates allow the highest frequencies of light eyes. And since some genes govern the color of both eyes and hair together, an environment that does not select for dark eyes may also not select for dark hair, and so light hair, too, would be most common in low-sun areas.
The maps posted show almost no area where most people have light hair and most people have dark eyes, whereas the combination of mostly dark hair and mostly light eyes is found on the borderland between the light hair/light eye zone and the dark hair/dark eye zone—and also in Ireland--a combination noted by others. I don’t know why this is the case in Ireland, but Coon said that northwest Europe had the most light eyes whereas northeast Europe had the most light hair. However I thought (at one point) that the strong Mediterranean presence in Ireland and west Britain might account for the lower frequency of light hair in the northwest, and that apart from that light hair might as common, or commoner, in the northwest as in the northeast, and so the northwest could be a center of light hair as well as light eyes.
Interesting and perhaps useful in explaining some of this are the people of the Siberian taiga. Though their skin, eyes and hair are, on average, darker than northern Europeans, as is the case with Artic peoples and central Asians, in the case of hair it is the case that lighter hair (i.e. medium brown hair) is sometimes found among the taiga peoples—more so than among either the Artic or the central Asian peoples. Well the taiga peoples get less sun, since their land is heavily wooded, in contrast to the Arctic and central Asia. Yet, as far as know, the frequency of dark eyes among the taiga peoples is not lower than it is in the Arctic or central Asia. Well, in a forest it is mostly shady but one gets some glare from the sun in one’s eyes (especially when the trees are deciduous—there are deciduous conifers (larches and tamaracks) in eastern Siberia—when their leaves are gone. In contrast, the reverse combination of light eyes and dark hair maybe more common in cloudy, foggy areas, since cloud and fogs block glare, but sun sometimes gets through enough to cause sunburns on overcast days.

Fanty said...

"The maps posted show almost no area where most people have light hair and most people have dark eyes"

Well, it depends on the definition of "most".

The maps, created by looks, rate places like Sardinia as "0.5% light pigmentation" (specially that Italy map)

The actual frequency of the mutation for light eyes in Sardinia is about 6%.

But its recessive, so you can have the mutation but still show dark eyes. (also, there seems to be an effect that you can have a mutation but it has no effect until its needed. From that moment on its triggered to ON. That mechanism not fully understood yet but observed and accepted as existant)

The Baltic states are in that light blue "80% or more" Region on the 1960s maps "by looks".

And 95% of them possess a mutation for light eyes.

Actually, by the frequency of the mutation, Lithuania and Sardinia are the maximum and minimum of light eye mutation in Europe. Wich is kind of funny, since thats exactly the cline that admixture is trying to sell us.

What makes me somewhat suspicious.
As if one asks the software: Whats the main contrast in Europeans? And it answeres: The cline from light to dark eyes.

Makes one wonder, if eliminating all pigmentation SNPs from the calculation would bring totaly different results.

Like eliminating close relatives.