24,000 year old Mal'ta Siberians (ydna R* and mtdna U*)

Common sense is going to prevail here; I'll make sure of it, wether this brainless forum supports me or not; look at everyone validating aberdeen's comments! XD true clowns

OK Adamo, we are all of us clowns! but let me say Aberdeen is by far less affirmative than you - just trying to have you to understand something surprising could be true even if conter-intuitive at first sight - the better way in this "tennis form discussion" would be wait for deeper SNPs for this Amerindians...
by the way, even the skeletons features of some north-eastern Amerindians stroke me by the poorly mongoloid aspect they had, and here we are speaking about ancient big chiefs of tribes I don't suspect as being "half-blood" -
 
Watch the results cluster with Europeans, I will laugh so bad.
 
I agree about the current paper. (The entire Mallick et al paper can be found here:http://www.plosgenetics.org/article....1371/journal.pgen.1003912&representation=PDF)
It is really talking about the emergence, or perhaps more accurately, the coalescence of this mutation, and not when it expanded. Even then, their confidence intervals for that coalescence are huge.

"We estimated the coalescence time of the rs1426654 mutation at 28,100 years (95% CI - 4,900 to 58,400 years) using BEAST.Using the same mutation rate, the coalescent age estimated by rho statistics was 21,702 years 6-10,282 years.

For an understanding of the actual selective sweeps involved, I find this paper more informative.
http://mbe.oxfordjournals.org/content/early/2012/08/25/molbev.mss207.full.pdf+html
The Timing of Skin Pigmentation Lightening in Europeans, Beleza et al

This is one of their conclusions, based on the KITLG gene.
I find this interesting in light of the fact that the Mal'ta boy is dated to 24, 000 years ago, and so maybe from a period before there was complete divergence between West Eurasian, East Eurasian, and perhaps indeed Southeast Eurasian groups, which would explain his admixture results.

"the initial stages of European skin lightening occurred in a proto Eurasian population, about 30,000 years ago, after the out of Africa migration ~60,000 70,000 years ago and slightly more
recently than the earliest archaeological evidences for the dispersal of anatomically modern humans in Europe, around 40,000 years ago Recent estimates based on genome wide patterns of variation have suggested that the European and East Asian divergence might have occurred as late as ~25,000 years ago.

This is where they discuss the timing of the selective sweep.
"Our estimates additionally show that the onset of selective sweeps at SLC24A5, SLC45A2,and TYRP1, the three genes in which the geographic distribution of the polymorphisms is primarily restricted to European populations, were much more recent than at KITLG
, and remarkably compressed within the last 11,000-19,000 years (Table 3)."

Based on these dates, they place the time of the sweeps into Europe during the Magdalenian, and posit that it occurred both because of reduced sunlight during the LGM, leading to high risks of Vitamin D deficiency, and the fact that they see a large increase in population during that period, and that would have made these mutations more available in the population.

I'm not sure I agree with that conclusion from the data. Snow and ice conditions would not necessarily decrease sunlight, or at least that's how I understand it, and these H/G's would still have been consuming a high fish diet, which would presumably have somewhat mediated their situation in terms of access to Vitamin D. I also still lean toward the view that the Neolithic technologies produced the large increase in population, instead of resulting from it...

Also, the dates they provide in Table 3 seem to me to support the Neolithic era as the most likely time for the sweeps to have begun, in particular because of the added Vitamin D deficiency stress caused by a majority cereals diet. The data in Table 3 shows that they

estimated that the selective sweep at SLC24A5 occurred around 11.3 KYA (95% CI, 1–55.8 KYA) and 18.7 KYA (5.8–38.3 KYA) under additive and dominant models, respectively [42]. With those kinds of dates and confidence intervals, it seems more than possible to me that the sweep took place during the Neolithic, funnelling out from the northern Near East and into Europe.

At any rate, the new Mallick et al paper which Dienekes posted does not necessarily see a contradiction between its own results and these slightly older papers. As they say:


"Our Bayesian coalescent age estimate of the rs1426654-A allele at ~28 KYA (95% HPD, 5–58 KYA), as well as the rho-based estimate at 21.7 (±10.3) KYA, are older in their point estimates than both of the above selective sweep date estimates, although these age estimates have broad and overlapping error margins. This finding is not surprising because sweeps can also operate on standing variation. "

Therefore, they conclude that:


"It appears that the most plausible scenario is that light skin evolved as an adaptation to local environmental conditions as humans started moving to northerly latitudes, with the initial phase of skin lightening occurring in proto Eurasian populations, while genetic variation in SLC24A5 formed the later phase which led to lighter skin in Europeans and South Asians, but not East Asians. This was followed by a European-specific selective sweep, which favored the rapid spread of this mutation in these populations. Our coalescence age estimates of 28 KYA (95% HPD 5–58 KYA) show wide margins, also evident in the earlier sweep date estimates for the gene [42]. This can be due to the fact that the power of our analysis was limited by the need to reduce our sequence range to a subset of sites from a region with sufficiently high LD around the rs1426654-A allele and very low level of sequence variation. Therefore, we speculate that narrowing down the coalescence age estimates and specifying the geographic source of the rs1426654-A allele will depend rather on the success of ancient DNA studies than on more extensive sequencing."

interesting reply -
I red in this thread interesting things and I agree for following: 1) selection can generalize itself after a long enough time, according to life environment and diet -2) external global phenotype on AN UNIQUE MAN cannot tell us a lot about the links with Y, mt and autosomals DNA - 3) an ancient man considered as an admixture upon today autosomals pooled populations could contain in fact a lot of ancestral autosomals and be closer to the VERY authentic pool before separations of its subsets and process of raciation by new mutations + selection which give the today reference autosomals populations (I confess I did not get precisely how these admixtures poolings are made; what is specific to a "typical" population, what is shared with others, what parts of the genome are more or less exposed to mutations and so which of them are better tests fo past) -
&: concerning Neolithic, diet and pigmentation, I am a bit doubtful: the people in Eurasia which have the less neolithical heritage, as it seems, are the people who have the lightest skins... but it's true all EuropoIds or almost have light skin compared to Subsaharians; if you date the light skin "baby boom" by selection at the Néolithic ages, you put it at a time human kinds protect their bodies as against sun as against cold or wind and rain, so??? the gain of an ONLY VISAGE exposed to sun to accumulate vitamin D seems to me very tiny even if non neglictible ... maybe am I wrong? but I suppose the depigmentation of skin began before the 8000 NC to produce effects in certain places.
and people of the Atlantic shores have not only neolithic people as ancestors and they had fish in quantity, why are they so depigmented? surely more than a factor played
concerning Y-R and mt-U this discovering seems confirming some bets but I wait bigger sample - Have we some calculations about the parallele fair skin mutation among mongoloids and the chronology with their proper access to agriculture?
thanks
- sulwezh mad deoc'h!
 
Watch the results cluster with Europeans, I will laugh so bad.


If all of the R clusters with Europeans, we will have a definite answer, which is something we don't have now. If most of the R doesn't cluster with Europeans but instead is clearly Native American, we will also have a answer, which is something that we don't have now. Either way, I'm fine with it, since I don't see this as a subject to get emotional about. I'm simply trying to understand the implications of ancient Q and R in Siberia, and think about whether it has anything to do with the peopling of the Americas. Perhaps yes, perhaps no. Since the Siberian results apparently included mtDNA U, and I don't think there's U among Native Americans, it's possible that the R (and the Q) from this discovery doesn't relate to the peopling of the Americas.


 
Getting emotional lolllll, deffinetly a genetics amature with that paragraph
 
Any and all y-DNA R in the Americas is due to white modern colonialism; it is a known fact; y-DNA R NEVER crossed the Bering straight into the Americas.


Adamo,
maybe you're right saying that Y-Dna didn't cross over to America through the Bering strait - I rather believe it crossed through the Atlantic, already in prehistoric times.
 
Why is it a known fact? Please provide data concerning sub-clade analysis etc. or I'll think you're just making an assumption and we don't really know yet. Wikipedia says that Y haplotype R

"is the second most predominant Y haplotype found among indigenous Amerindians after Q (Y-DNA). The distribution of R1 is believed to be associated with the re-settlement of Eurasia following the last glacial maximum. One theory put forth is that it entered the Americas with the initial founding population. A second theory is that it was introduced during European colonization. R1 is very common throughout all of Eurasia except East Asia and Southeast Asia. R1 (M137) is found predominantly in North American groups like the Ojibwe (79%), Chipewyan (62%), Seminole (50%), Cherokee (47%), Dogrib (40%) and Papago (38%)."

So the author of the article thinks it's still unclear where all that R DNA came from. But perhaps you have some data that the author of that article didn't have?


It's just a theory I think, I don't find any more info either.
It is strange this was never investigated further, they could have checked whether it was R1* or R1a or R1b
I've read once most native Amerindians are opposed to further tests on their DNA
If you look at the mtDNA X distribution and compare it with R1 in America, it looks like both entered America together.
If you compare R1 with Q distribution in the far eastern tip of Siberia, you'll notice some similarities.
I'd say these are hints that R1 realy came to America via Beringia.
 
I think the discussion got a little off track so let me clarify a few things.

1. There is excitment because, apparently, an individual from Mal'ta had Mongoloid features and the same individual lacked an "East Asian" autosomal component. At least that is what I've read in a number of forums. That is unusual and could mean Mongoloid features are distinct from an "East Asian" component identified. I other words, two distinct Asian races existed that later fused so that Mongoloid features and East Asian ancestry are always (now) seen together.

2. There really is no implication that R* should be found in the Americas. Not saying it's not possible, but it is unlikely for the reason that all American R*'s are downstream of fairly recent European R's.
Also European R's are fairly recent to Europe itself. Again, we won't know what kind of R* until the paper is published. It could be R2 or something else.

3. Because Amerindians do have "East Asian" admixture, it means that the non-East Asian component (P-M45>Q-M242) or just Q* can be isolated for the other 60 or so percent.
That is huge because Northern Europeans also seen to have a sort of binary autosomal ancestry consisting of a Near Eastern component(s) and another component (now probably associated with R*).
 
I think the discussion got a little off track so let me clarify a few things.

.................

2. There really is no implication that R* should be found in the Americas. Not saying it's not possible, but it is unlikely for the reason that all American R*'s are downstream of fairly recent European R's.
.........

When you make a statement of fact, it would be helpful if you could provide some proof of your assertion, as some of us aren't as knowledgeable about DNA as you are.
 
Yeah; we can see that.
 
And read Tabbacus text; a vivid and appropriate explanation; very thorough.
 
look at mtdna B; found in the Americas and in east Asia; it can be found in both Mexican and Chinese females....there is minimal but present component shared by Amerindians and East Asians; a much larger piece though is shared by Amerindians and siberians in particular; maybe not the same subclades, but y-DNA Q is found in Siberia and the Americas; mtdna C is found in Siberia and the Americas, etc.
 
Adamo, in my opinion, your comments don't have much to do with what I said, and are in fact taking the thread off topic. My original question also did, but I was interested in what I thought might be an interesting side issue. And any time someone makes a definite statement of fact, I want to know whether they have data to support it or whether it's a "well known fact", i.e., an assumption (although looking at other posts made by Tabaccus Maximus, I would expect a statement made by TM to be based on data).

However, if we look at what TM said in his points 1 and 3, I can understand why he wants the emphasis of this thread to be on the questions of whether Mongoliod and East Asian components were once separate. Even though I'm not a geneticist, I can see that if you had Mongoliod DNA without any East Asian component, it might be easier to measure each of those in modern populations that are both Mongoliod and South Asian. And I suppose the people whose remains have been found aren't necessarily ancestral to modern East Asian and Native American people - if Q and P developed elsewhere, this could just be an isolated group that wandered away from their ancestral homeland to hunt reindeer. So I suppose most people who look at this find are more interested in the question of whether Q was once Mongoliod but not East Asian. Certainly these people's descendants didn't people the Americas unless they first merged with East Asians.
 
interesting reply -
I red in this thread interesting things and I agree for following: 1) selection can generalize itself after a long enough time, according to life environment and diet -2) external global phenotype on AN UNIQUE MAN cannot tell us a lot about the links with Y, mt and autosomals DNA - 3) an ancient man considered as an admixture upon today autosomals pooled populations could contain in fact a lot of ancestral autosomals and be closer to the VERY authentic pool before separations of its subsets and process of raciation by new mutations + selection which give the today reference autosomals populations (I confess I did not get precisely how these admixtures poolings are made; what is specific to a "typical" population, what is shared with others, what parts of the genome are more or less exposed to mutations and so which of them are better tests fo past) -
&: concerning Neolithic, diet and pigmentation, I am a bit doubtful: the people in Eurasia which have the less neolithical heritage, as it seems, are the people who have the lightest skins... but it's true all EuropoIds or almost have light skin compared to Subsaharians; if you date the light skin "baby boom" by selection at the Néolithic ages, you put it at a time human kinds protect their bodies as against sun as against cold or wind and rain, so??? the gain of an ONLY VISAGE exposed to sun to accumulate vitamin D seems to me very tiny even if non neglictible ... maybe am I wrong? but I suppose the depigmentation of skin began before the 8000 NC to produce effects in certain places.
and people of the Atlantic shores have not only neolithic people as ancestors and they had fish in quantity, why are they so depigmented? surely more than a factor played
concerning Y-R and mt-U this discovering seems confirming some bets but I wait bigger sample - Have we some calculations about the parallele fair skin mutation among mongoloids and the chronology with their proper access to agriculture?
thanks
- sulwezh mad deoc'h!

I doubtless expressed it poorly, but I also see the Mal'ta boy as indicating that perhaps the differentiation into discrete "racial" or continental breeding groups, which, in my opinion, is not even possible today, was even less possible 24,000 years ago. When his genome is run through an admixture program at K=3, and shows a mix of "West Eurasian", "South Central Asian" and "Amerindian", it may be informative in a general way for direction of gene flow into the area in very ancient times, but it may also just show the differentiation that would someday develop as different breeding groups of humans became more isolated from one another.

As to whether people bearing yDNA "R" existed at this time in Europe, I don't know...there are several anaAs for this group in Siberia, I think it's possible that they turned southwest in response to climatic conditions and sought a refugia elsewhere.

Also, while phenotype may not say anything specific about all yDNA R, or mtDNA U people 24,000 years ago, I think we can say that even after thousands of years in the far north, the pigmentation of these hunter gatherers was still "much darker" than Oetzi's, and, as we know, Oetzi carried the SLC 24A5 "depigmentation" gene. That correlates with the tentative dating of various analyses of pigmentation changes in human populations. (Hopefully, when the paper becomes available, we will also be able to see data on other aspects of his phenotype and genotype.)

More specifically as concerns the development of lighter pigmentation, as I said, the Beleza et al paper makes sense to me...http://mbe.oxfordjournals.org/conten....full.pdf+html

As they point out, different mutations occurred and expanded at different times. They date the KIT gene which is present in both West Eurasians and East Asians pretty early, to approximately 30,000 yago.

These are the dates they provide:
KITLG 30,000
TYRP1 14,000
SLC45A2 13,720
SLC24A5 11,368

Of course, as I said, these numbers have huge confidence intervals. However, the data we have for Oetzi, and supposedly have for the Mal'ta boy, are roughly consistent with this. More ancient DNA will give us more data points.

The only place where I think that paper goes wrong is in categorizing SLC24A5 as having a European distribution. It has a West Eurasian distribution; it also reaches fixation or 1 in the Druze, and the number for the Palestinians is .99 and for the Bedouin .97. Given the more recent inflow into that area from SSA and East Africa, I lean toward the idea that it was originally also fixed in them. Razib Khan made the same point on his blog. That, I think, might tie into the idea of a Neolithic spread for this gene.

This is the table, from Norton et al 2007, which I posted up thread as well.
http://mbe.oxfordjournals.org/content/suppl/2006/12/21/msl203.DC1/mbe-06-0529-File010_msl203.pdf

It is SLC45A2 which has not broadly reached fixation even in Europe. The chart can be found in post #45 of this thread. This is a map from the Lucotte et al paper which shows the distribution in Europe...(MAPT374G is SLC45A2).
http://blogs.discovermagazine.com/gnxp/files/2013/03/slc45a21.png

This, even if it originated earlier than SLC45A2, might have had its sweep later. I just don't think there's enough data right now to be sure when or from where it spread...

I'm more comfortable with the idea that the SLC24A5 gene spread out from the Middle East. Whether it was late Mesolithic or early Neolithic and whether it was tied to a cereals diet, I don't know, but I think it merits further investigation.

As to the later East Asian snps which lightened pigmentation, I think even less research has been done on those.
 
Y-DNA Q is found in 98% of Native American male lineages and is also a substratum among Siberian lineages; it is NOT associated with these mongoloids you speak of.
 
Nor is it present in south or East Asian samples.
 
Here's what Science Magazine had to say about the find on October 13, 2013. Maybe the descendants of this boy's cousins did team up with some Q (and C) haplotype folk, intermix with East Asians and eventually cross the Bering Strait. That's the possibility this article seems to be focussed on.

"Where did the first Americans come from? Most researchers agree that Paleoamericans moved across the Bering Land Bridge from Asia sometime before 15,000 years ago, suggesting roots in East Asia. But just where the source populations arose has long been a mystery.
Now comes a surprising twist, from the complete nuclear genome of a Siberian boy who died 24,000 years ago—the oldest complete genome of a modern human sequenced to date. His DNA shows close ties to those of today's Native Americans. Yet he apparently descended not from East Asians, but from people who had lived in Europe or western Asia. The finding suggests that about a third of the ancestry of today's Native Americans can be traced to "western Eurasia," with the other two-thirds coming from eastern Asia, according to a talk at a meeting* here by ancient DNA expert Eske Willerslev of the University of Copenhagen. It also implies that traces of European ancestry previously detected in modern Native Americans do not come solely from mixing with European colonists, as most scientists had assumed, but have much deeper roots. The Mal'ta boy was related to people who later migrated across Beringia to the Americas.

"I'm still processing that Native Americans are one-third European," says geneticist Connie Mulligan of the University of Florida in Gainesville. "It's jaw-dropping." At the very least, says geneticist Dennis O'Rourke of the University of Utah in Salt Lake City, "this is going to stimulate a lot of discussion." Researchers have been trying to parse the origins of the first Americans for decades. Most agree that people moved across Beringia, via a vast ice age land bridge, and began spreading through the Americas, reaching Chile by 14,500 years ago. But the origins of the source populations are not clear, and some archaeologists have even suggested that ancient Europeans crossing the Atlantic were part of the mix. Others have contended that early skeletons found in the Americas, such as the 9000-year-old Kennewick Man, show some European features. In his talk, Willerslev argued that the ancient genome "can actually explain a lot of these inconsistencies," by offering glimpses of prehistoric populations before more recent migrations and other demographic events blurred the picture. The genome comes from the right upper arm bone of a boy aged about 4 years, who lived by Siberia's Belaya River. Those who buried him adorned his grave with flint tools, pendants, a bead necklace, and a sprinkling of ochre. In the 1920s, Russian archaeologists discovered the burial and other artifacts near a village called Mal'ta, which gave the celebrated site its name. Willerslev and co-author Kelly Graf of Texas A&M University in College Station, traveled to the State Hermitage Museum in St. Petersburg, Russia, where the boy's remains are housed, and took a bone sample. Willerslev reported that the team was able to sequence the boy's genome, and also to radiocarbon date the bone. The team then used a variety of statistical methods to compare the genome with that of living populations. They found that a portion of the boy's genome is shared only by today's Native Americans and no other groups, showing a close relationship. Yet the child's Y chromosome belongs to a genetic group called Y haplogroup R, and its mitochondrial DNA to a haplogroup U. Today, those haplogroups are found almost exclusively in people living in Europe and regions of Asia west of the Altai Mountains, which are near the borders of Russia, China, and Mongolia. One expected relationship was missing from the picture: The boy's genome showed no connection to modern East Asians. DNA studies of living people strongly suggest that East Asians—perhaps Siberians, Chinese, or Japanese—make up the major part of Native American ancestors.

So how could the boy be related to living Native Americans, but not to East Asians? "This was kind of puzzling at first," Willerslev told the meeting. But there seemed little doubt that the finding was correct, he said, because nearly all Native Americans from North and South America were equally related to the Mal'ta child, indicating that he represented very deep Native American roots. The team proposes a relatively simple scenario: Before 24,000 years ago, the ancestors of Native Americans and the ancestors of today's East Asians split into distinct groups. The Mal'ta child represents a population of Native American ancestors who moved into Siberia, probably from Europe or west Asia. Then, sometime after the Mal'ta boy died, this population mixed with East Asians. The new, admixed population eventually made its way to the Americas. Exactly when and where the admixture happened is not clear, Willerslev said. But the deep roots in Europe or west Asia could help explain features of some Paleoamerican skeletons and of Native American DNA today.

"The west Eurasian [genetic] signatures that we very often find in today's Native Americans don't all come from postcolonial admixture," Willerslev said in his talk. "Some of them are ancient." The talk sparked lively exchange, and not everyone was ready to buy the team's scenario, at least until they can read the full paper, which is in press at Nature. "This is a lot to hang on one skeleton," Mulligan says. Willerslev said during the discussion that his group is now trying to sequence the genomes of skeletons "further west." The new findings are consistent with a report published in Genetics last year (and almost entirely ignored at the time) that used modern DNA to conclude that Native Americans have significant—and ancient—ties to Europeans. "Our group is very excited to see this," says Alexander Kim, who works with geneticist David Reich at Harvard Medical School in Boston and represented the group at the meeting. Reich's team found that populations they identified as Native American ancestors in Asia apparently also contributed genes to populations in northern Europe. Thus, both studies suggest a source population in Asia whose genes made their way east all the way to the Americas, and west, all the way to Europe. "Mal'ta might be a missing link, a representative of the Asian population that admixed both into Europeans and Native Americans," Reich says. If so, he adds, it shows "the value of ancient DNA in peeling back history and resolving mysteries that are difficult to solve using only present day samples."
 
I guess because P splits into Q and R whereas most East Asians being y-DNA O, descend from K directly without the P mutation? Although of course Tibetans and Japanese have like 40-50% y-DNA D and I guess you can find C at 5-15%......maybe not! it would be nice to get more opinions on this subject.
 
any time someone makes a definite statement of fact, I want to know whether they have data to support it or whether it's a "well known fact"

I will try to reference assertions better. Often I am travelling or between computers and phones so I am unable to easily reference studies or books.

As far as Amerindian y-dna studies, there are two referenced in Wikipedia that you can link to, there was also one by Hammer et al, free here
http://mbe.oxfordjournals.org/content/21/1/164.short

In essence, the MRCA of NE American R1's is typical of colonial multi-progenitors or is downstream of P25. That doesn't necessarily preclude Viking or Irish settlement in the pre-Columbian era though, and there could theoretically be a very low frequency of indistinct R that diffused from a modern pre-columbian East Coast settlement that has yet to be detected. Given the North Sea endonym "spillers of semen", I'm sure if Vikings were on American soil for five minutes they did Vikingeske things.

But I doubt any R crossed the Beringa in the 10k years prior to this for the reason that it would probably be incredibily distinct and proliferated R which doesn't appear the case.
 

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