Tibetan Altitude Gene Inherited ‘from Extinct Species’

Paul Rincon, BBC News, July 2, 2014

A gene that allows present-day people to cope with life at high altitude was inherited from an extinct species of human, Nature journal has reported.

The variant of the EPAS-1 gene, which affects blood oxygen, is common in Tibetans–many of whom live at altitudes of 4,000m all year round.

But the DNA sequence matches one found in the extinct Denisovan people.

Many of us carry DNA from extinct humans who interbred with our ancestors as the latter expanded out of Africa.

Both the Neanderthals–who emerged around 400,000 years ago and lived in Europe and western Asia until 35,000 years ago–and the enigmatic Denisovans contributed DNA to present-day people.

The Denisovans are known only from DNA extracted from the finger bone of a girl unearthed at a cave in central Siberia. This 40,000-50,000-year-old bone fragment, as well as a rather large tooth from another individual, are all that is known of this species.

The tiny “pinky” bone yielded an entire genome sequence, allowing scientists to compare it to the DNA of modern people in order to better understand the legacy of ancient interbreeding.

Now, researchers have linked an unusual variant of the EPAS1 gene, which is involved in regulating the body’s production of haemoglobin–the molecule that carries oxygen in the blood–to the Denisovans. When the body is exposed to the low oxygen levels encountered at high elevations, EPAS1 tells other genes in the body to become active, stimulating a response that includes the production of extra red blood cells.

The unusual variant common among Tibetans probably spread through natural selection after their ancestors moved onto the high-altitude plateau in Asia several thousand years ago.

“We have very clear evidence that this version of the gene came from Denisovans,” said principal author co-author Rasmus Nielsen, from the University of California, Berkeley.

He told BBC News: “If you and I go up to high altitude, we’ll immediately have various negative physiological effects. We’ll be out of breath, we might suffer from altitude sickness.

“After a little while, we’ll try to compensate for this by producing more red blood cells. But because we’re not adapted to the high altitude environment, our response would be maladaptive–we would produce too many red blood cells.

“The blood becomes too thick and raises our blood pressure, placing us at risk of stroke and pre-eclampsia (in pregnant women).”

But Tibetans are protected against these risks by producing fewer red blood cells at high altitude. This keeps their blood from thickening.

The Tibetan variant of EPAS1 was discovered by Prof Nielsen’s team in 2010. But the researchers couldn’t explain why it was so different from the DNA sequences found in all other humans today, so they looked to more ancient genome sequences for an answer.

“We compared it to Neanderthals, but we couldn’t find a match. Then we compared it to Denisovans and to our surprise there was an almost exact match,” he explained.

He says the interbreeding event with Denisovans probably happened very long ago.

“After the Denisovan DNA came into modern humans, it lingered in different Asian populations at low frequencies for a long time,” Prof Nielsen said.

“Then, when the ancestors of Tibetans moved to high altitudes, it favoured this genetic variant which then spread to the point where most Tibetans carry it today.”

He says it remains unclear whether the Denisovans were also adapted to life at high altitudes. Denisova Cave lies at an elevation of 760m–not particularly high. But it is close to the Altai Mountains which rise above 3,000m.

Prof Nielsen said it was a “clear and direct” example of humans adapting to new environments through genes acquired via interbreeding with other human species.

Previous research has shown that ancient humans introduced genes that may help us cope with viruses outside Africa.

And a study of Eurasian populations showed that Neanderthal DNA is over-represented in parts of the genome involved in making skin, hair and nails–hinting, perhaps, at something advantageous that allowedHomo sapiens┬áto adapt to conditions in Eurasia.

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  • propagandaoftruth


    Out of Africa, but SO much more. Again, Humans – Out of Africa as soon as you can.

  • AndrewInterrupted

    “…But the DNA sequence matches one found in the extinct Denisovan people…”

    Meaning, technically, the Denisovans aren’t extinct. They were part of a merger.

    I found through 23andME that I was 2.7% Neanderthal. 23andME doesn’t test for Denisovan, near as I can tell. I assume I have a detectable percentage of Denisovan, too.

    Tarscan send me to NatGeo. He (she?) was about 5% Neanderthal/Denisovan combined. They measure Neanderthal and Denisovan at NatGeo. It costs more, though.

    • Tarczan

      Yeah I’m 2.3% Denisovan.

      • AndrewInterrupted

        Just fixed your name. I was going on memory. <;-D

        • Tarczan

          He, I’m Tarczan.

          • AndrewInterrupted

            Me not Jane. <;-D

      • Jack Burton

        Denisovan is typically Asian/Australoid/Amerindian. You must be admixed as well to have that much Denisovan.

        • Zimriel

          (I’m the guest who updinged this before I signed in…)

          I really do need to check mine own genome for Denisovia. I am European but I do have some Asian features, and my grandmother’s father looked like a Bukhari. As in – exactly like. I’ve seen pictures: of him, and of Jews from Bukhara before 1900.

          Tarczan: where did you go to find out your admixture?

    • Jack Burton

      For Whites I recommend 23andMe. They’ve really improved their subracial analysis. You get your European ancestry broken down into regions and countries, very nice.

      Is there a Shlomo in the woodpile? They’ll tell you.

      I like to know that I’m not only 100% European, but 99% Northern European as well.

      • AndrewInterrupted

        Does 23andME read Denisovan? I had no reading for that.

        • Jack Burton

          I don’t have that on mine, and from a brief search I read that they don’t do it yet. They probably will soon.

          For $99 it’s the best deal.

          • AndrewInterrupted

            Tarczan said NatGeo is $199, I think.
            I would like to get my Denisovan %.

          • Jack Burton

            Can’t tell you about the accuracy of NatGeo, but 23andMe is pro. You could do both and compare.

          • AndrewInterrupted

            Yeah, I was fairly impressed with the 23andME analysis. I really didn’t have many surprises. No Black milkman fortunately. Had more eastern European blood than I expected, but the Irish, French, etc. all jived.

          • Jack Burton

            Why do you think you have Denisovan?

            Do you breathe well at high altitudes? ­čśÇ

          • AndrewInterrupted

            Well, the eastern European blood, for one. Maybe Tarczan is an exception. I also had 2% “Iberian”. I wonder if that’s code for ancient Solutrean? They mapped those genes, too.

          • Jack Burton

            Denisovan is significant in Southeast Asian and Oceanic populations. Even if you have some East Asian admixture from Eastern European ancestry it’s doubtful you have any significant Denisovan.

            Seems like you want to pay $199 to find out though.

            According to 23andMe 2.7% Neanderthal is typical for Europeans. 2.3% Denisovan is not, so he must have non-European admixture to explain that.

          • AndrewInterrupted

            It’s my understanding that some Denisovan remains were found near the Caucasus Mtn. and Baltic areas.

          • Jack Burton

            Yes, but that has nothing to do with interbreeding to any significant degree in that area.

            Not like the Baltics was some hotbed of Denisovan nightlife and miscegenation.

            Even mainland Asians and Amerindians are only about .2% Denisovan. Compared to 4-6% in Oceania.

          • Zimriel

            It was more like pre-Denisovan as I recall.

            This stuff is still in its – I hate to use the cliche, “infancy” – early childhood.

          • PvtCharlieSlate

            My Old Man spent most of his working life driving a retail milk route. Once, sometime when I was in elementary school, I asked the OM if there were any black milkmen. He said they had hired several but that they had all quit after a short time because they had to get up too early in the morning and didn’t like having to go out on the route when there was cold, rain and snow.

  • Rhialto

    It’s amazing that in spite of all the physical adaptions that humans have made to differing environments, the brain is the same for all human types. On the average any group of humans will have the same mental capacity and instinctive behaviours. The observed differences are due only to environment.

  • JohnEngelman

    Over a period of thousands of years miscegenation is beneficial to human evolution. It increases genetic diversity and makes it easier for the human species to respond to new environments.

    In the short term miscegenation allows the spread of bad genes, especially those restricting human intelligence.

    • JDInSanD

      Except mixing is now being forced on us by our own government, media and educators who are brainwashing our own people into believing that other groups are just as good or better.

      We are constantly told blacks are the most genetically diverse. Do they respond well to new environments? Has miscegenation with blacks ever improved any other group? Has it even improved the blacks of the US or Brazil over the pure Africans of Africa?

      Just a few weeks ago I read that Mexicans from different parts of Mexico are more distantly related than Europeans and Chinese. How’s that diversity working out for Mexico?

      • JohnEngelman

        The government is not forcing anyone to date people of other races. The government is not forcing anyone to marry people of other races. Some people want to force people not to marry people of other races. The numbers of those people are declining.

        Many white nationalists have trouble accepting the high value most Americans place on freedom. They complain about social changes that happened because most people wanted to change.

        • JDInSanD

          I didn’t say they are forcing people to date. But they are forcing people to mix in order to purposely destroy Western Culture and our race. They are demonizing those who don’t want diversity. They are propagandizing in favor of mixing by lying – “multiculturalism is good for you.” We have no proof that’s it’s good for us or has ever been good anywhere, in fact we have plenty of proof throughout history and all over the world today that diversity causes strife.

          • ElComadreja

            It’s being strongly encouraged and “normalized” in the media. How many times a day do you see the image of a black male with a white woman on TV?

        • gregCall

          No certain people in control of almost all media manipulated the masses on many points and the government under the thumb of those same people ignored the will of the people. As an example immigration policy, the controlled media has always pushed open borders and uncontrolled immigration, while from the 80s to at least within a few years ago public opinion was vastly opposed to that position. Those changes weren’t brought about because “most people wanted to change”, but because our controlled elites ignored the will of the people and our controlled media did all they could to mitigate any damage those bought and paid for politician might have received for their actions (or lack thereof) by all mass manipulation techniques at their disposal.

          • JohnEngelman

            The different media compete for readers, viewers, and listeners. They cannot get them by manipulating people.

          • Terra Magnum Imperium

            Owners of Facebook may disagree with you.

        • You don’t like “freedom” when it comes to paying for things of which we hate. Shut up, John.

          • JohnEngelman

            White nationalists desire what can only be achieved by a dictatorship. They blame the Frankfurt School for changes in popular values. The implication of this kind of conspiracy theory is that if members of the Frankfurt School had been silenced decades ago those changes would not have happened.

            Right now I am primarily thinking of the growing practice and acceptance of interracial marriage, but there are other examples as well. In a Gallup Survey released June 5-8 71 percent of non Hispanic whites said that Immigration is good for America.

            On important issues white nationalists want what is wanted by a declining minority of the voters.

    • LHathaway

      In all seriousness, I’ve grown accustomed to your ‘facts’. What you’ve written above is pure fantasy. It’s a fantasy that makes no coherent sense even within it’s own made-up world.

    • expitch

      These massive generalizations cry out for specification.

    • gregCall

      A small amount of new genetic material, occasionally, over time may be beneficial in the way you describe, but widespread miscegenation halts natural selection thereby stopping human evolution.
      Natural selection requires stable populations for genetic traits to become dominant and as natural selection is the driving force of evolution, race mixing stagnates human development.
      I’m sure there are rare successful mixtures but they are the exception, not the rule. The Japanese come to mind, as a mixture of the Ainu and Koreans they have been pretty successful. North Africans (and American Blacks for that matter) as black/white mixes not so much.

    • expitch

      These massive generalizations require evidence for support.

    • Jack Burton

      Nonsense, mixed-race offspring are typically halfway between the two races, as one would expect. Furthermore there is also outbreeding depression, which gets worse with each discordant generation, as we see with mixing with third world primitives. All you get are mentally unstable, rootless, dysgenic mongrels.

      • ElComadreja

        I have yet to meet a mulatto, quadroon or octaroon that self-identifies as white.

  • Smith

    In A Troublesome Inheritance Nicholas Wade makes the statement that all humans have the same set of genes, it is only alleles which vary. It caused me to wonder about the average 3% Neanderthal genes that Europeans carry and Sub Saharan Africans do not. This information makes me wonder again. Wade is informative, but I take some of what he says with a grain of politically correct salt.

    • Zimriel

      PC aside, “A Troublesome Inheritance” completely whiffed on the question of Neanderthal and Denisovan contributions to the Eurasian genomes.

  • Steven Barr

    Don’t you just laugh when you hear white liberals bemaoning the fact that the Chinese are trying to make Tibetans a minority in their “own land”?

    • I haven’t seen one in quite awhile, but I’d always get a laugh out of the libs that run around with “Free Tibet” bumper stickers on their cars.

      1. Free Tibet….from whom ?

      2. Free Tibet…how ?

      Do they not want us to notice that the answer to number one is China, Dianne Feinstein’s husband’s favorite country? Are we to engage China in nuclear war over the matter of some brown hippie on a mountain? Why can Tibet secede from China but not Dixie from Amurrika?

      • Pro_Whitey

        Free Tibet? Hey, you can’t beat that price!

  • Smith

    I listened to NPR the other day by mistake while driving. There was a Brazilian lady being interviewed by one of the NPR ladies (they don’t seem to hire many men) and suddenly the Brazilian lady soccer fan digressed into tearful remembrances of spending time with her father at soccer games in Brazil. The NPR lady sounded distant and cold afterwards, sort of like the Brazilian had committed a faux pas by waxing sentimental about her dad. NPR makes me sick. lol.

  • Jack Burton

    When are they going to start talking about blacks having homo erectus admixture.

    • sddasasd

      They don’t. They may have ancestry from other archaic hominids (like Iwo Eleru in Nigeria), but they weren’t h. erectus. I see someone already cited Fuerle’s crazy book though. A man who claims things like Portugal and the muslim world fell due to race mixing with africans, that the Khoisan are half east asian, and homo erectus is actually more closely related to eurasians than are modern africans (yes, he actually claims this in contrast to the book’s title, among many other crazy things) is not reliable or trustworthy. The man is pretty much a crank, and it’s a shame people cite his shlock so favorably, even if it illuminates how the study of human evolution has been perverted by egalitarians.

  • gregCall

    Africans and European are the same species in the same way that foxes and wolves are. While almost all members of the Canine family came interbreed they are broken down into subspecies, which is actually correct. While the same situation applies to the Homo family, to divide us into subspecies (which would be scientifically correct) would be seen to dehumanize some groups and even worse would destroy the lefts egalitarian dream world.
    I always use the Aborigine as an example, if you go to a site that sells skulls and look at a European, Asian, African, Neanderthal, and Aborigine skulls, the Euro and Asian skulls look similarly modern, the African also looks modern with a few more primitive features, the Neanderthal look more primitive than those covered but surprisingly the one that looks the least like a human skull is the Aborigine, especially from a top down view. The Aborigine skull has many features only seen in chimpanzees, and yet an aborigine is considered a modern human while a Neanderthal is not considered a modern human. It is certain that if Neanderthals were still in existence they would also be considered modern while if the Aborigines had gone extinct 10k years ago they probably wouldn’t even be listed as modern human.

    • sddasasd

      What are you talking about? You actually think neanderthal skulls look more modern than aboriginal skulls? One of the few more modern feature is their larger cranial capacities, nearly everything else is clearly more ancestral (though admittedly relatively similar.) Nor do they have features only seen in “chimpanzees”.

      • gregCall

        I can name two chimp like features right off, post orbital constriction and pronounced zygomatic arches.
        Your point about cranial capacity while welcome is beside the point as my point was simply appearance and not internal structure.
        I see I did make one omission in my original comment, I meant to include a chimp skull in my list of skulls to compare.
        So to repeat if you line up Asian, European, African,Neanderthal,Aborigine, and Chimp skulls, from a top down view the aborigine skull will more closely resemble the chimp skull than any of the others. From a frontal view the Aborigine and Chimp skulls do not bear the same resemblance, but the Aborigine skull still appears the most primitive of the human/Neanderthal skulls.
        Just do a search and see for yourself.

        • sddasasd

          I was going through my old comments and came across this one, didn’t realizing it had a reply.

          I don’t really disagree with your overall message, but you’re still pretty off. Zygomatic arches, more colloquially known as “cheek bones”, are largest in east asians and other northern mongoloid peoples. And I still can’t readily agree with your assessment aborigines look more primitive than neanderthals (although neanderthals did have more projecting noses). They are similar for sure, but neanderthals are very distinct and no other population truly resembles them. Australian aborigines also differ more in appearance than any other human population, and it’s not difficult to find aborigines who aren’t very primitive looking- many resemble south indians.

  • Jack Burton

    Race is subspecies.

    There are many species that can produce viable mixed offspring, it’s more flexible than that.

  • Jack Burton

    Is that supposed to mean something? I already addressed this.

    Migrations don’t equate with admixture.

    There have been many migrations of archaic hominids. They found erectus remains in Georgia. Does that mean Georgians are all part erectus? Of course not.

    • AndrewInterrupted

      Tarczan can’t explain his high Denisovan. His family lore sounds similar to mine, Europe for as long as anyone can remember.