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Thread: Ötzi's genome released

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    Ötzi's genome released

    The abstract from the paper:

    The Tyrolean Iceman, a 5,300-year-old Copper age individual, was discovered in 1991 on the Tisenjoch Pass in the Italian part of the Ötztal Alps. Here we report the complete genome sequence of the Iceman and show 100% concordance between the previously reported mitochondrial genome sequence and the consensus sequence generated from our genomic data. We present indications for recent common ancestry between the Iceman and present-day inhabitants of the Tyrrhenian Sea, that the Iceman probably had brown eyes, belonged to blood group O and was lactose intolerant. His genetic predisposition shows an increased risk for coronary heart disease and may have contributed to the development of previously reported vascular calcifications. Sequences corresponding to ~60% of the genome of Borrelia burgdorferi are indicative of the earliest human case of infection with the pathogen for Lyme borreliosis.
    Also, the entire genome is available at IcemanGenome.net.

    The previous reports that he is G2a L91+, current ISOGG G2a2b/old ISOGG G2a4 are confirmed.

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    And Dienekes' is posting about this in the blog: http://dienekes.blogspot.com/2012/02...an-iceman.html

    He's adding updates. At the moment, seems pretty clear that the iceman clusters with Sardinians, what means he was largely Mediterranean/Atlantic-Med. Also, Dienekes' is looking for the genotype file, not yet available or hide somewhere.

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    Quote Originally Posted by Knovas View Post
    And Dienekes' is posting about this in the blog: http://dienekes.blogspot.com/2012/02...an-iceman.html

    He's adding updates. At the moment, seems pretty clear that the iceman clusters with Sardinians, what means he was largely Mediterranean/Atlantic-Med. Also, Dienekes' is looking for the genotype file, not yet available or hide somewhere.
    Thats kind of surprising, since Ötzi is believed to be from Remedello Culture, as Maciamo found out from the Tyrol Museum's web page. But according to Wikipedia, Remedello Culture is Indo-European (http://en.wikipedia.org/wiki/Remedello_culture), not quite expected as heritage of todays Sardinians. Possibly Remedello Culture peoples were local natives who adopted Indo-European culture then?

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    To be more precise, the museum claims Ötzi was from Tamins-Carasso-Isera 5 Culture, which was influenced by the Remedello Culture.

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    Quote Originally Posted by ElHorsto View Post
    Thats kind of surprising, since Ötzi is believed to be from Remedello Culture, as Maciamo found out from the Tyrol Museum's web page. But according to Wikipedia, Remedello Culture is Indo-European (http://en.wikipedia.org/wiki/Remedello_culture), not quite expected as heritage of todays Sardinians. Possibly Remedello Culture peoples were local natives who adopted Indo-European culture then?
    It's highly doubtful that the Remedello Culture was already Indo-European. It did have early copper-working, yes, but no domesticated horses or the wheel - which all were present amongst the Proto-Indo-Europeans. Ötzi lived approximately contemporary to the Yamna Culture, which (in the Kurgan context) is generally regarded as Proto-Indo-European. I don't know where the Wikipedia article got that from (maybe who edited the article was an adherent of the defunct Anatolian hypothesis), but they're clearly wrong.

    In terms of Y-DNA, Ötzi is clearly part of Europe's Neolithic lineages, and it's not quite surprising that amongst modern lineages, he plots closest with the Sardinians, given how there Neolithic lineages probably fared better than in other parts of Europe.

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    Quote Originally Posted by Taranis View Post
    It's highly doubtful that the Remedello Culture was already Indo-European. It did have early copper-working, yes, but no domesticated horses or the wheel - which all were present amongst the Proto-Indo-Europeans. Ötzi lived approximately contemporary to the Yamna Culture, which (in the Kurgan context) is generally regarded as Proto-Indo-European. I don't know where the Wikipedia article got that from (maybe who edited the article was an adherent of the defunct Anatolian hypothesis), but they're clearly wrong.

    In terms of Y-DNA, Ötzi is clearly part of Europe's Neolithic lineages, and it's not quite surprising that amongst modern lineages, he plots closest with the Sardinians, given how there Neolithic lineages probably fared better than in other parts of Europe.
    What you say makes much more sense for me as well, thanks. The Wikipedia article indeed confused me a lot.

    The clustering of ancient Ötzi with today Sardinians further stresses the isolation of that island from later migrations. Thats a nice result. Now I wonder if HG I2a1 appears more strongly connected to HG G, given that HG I2a1 is most frequent in Sardinia, where HG G exists as well. That's because I'm speculating about the possibility of HG I being partially a neolithic or mesolithic newcomer in europe.
    Last edited by ElHorsto; 29-02-12 at 19:47. Reason: spelling

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    Quote Originally Posted by ElHorsto View Post
    What you say makes much more sense for me as well, thanks. The Wikipedia article indeed confused me a lot.

    The clustering of ancient Ötzi with today Sardinians further stresses the isolation of that island from later migrations. Thats a nice result. Now I wonder if HG I2a1 appears more strongly connected to HG G, given that HG I2a1 is most frequent in Sardinia, where HG G exists as well. That's because I'm speculating about the possibility of HG I being partially a neolithic or mesolithic newcomer in europe.
    I2a1a, which probably originated around the Pyrenees, was very probably the most successful Haplogroup I branch during the Neolithic, based on its age and spread. I've speculated about it being connected to the Neolithic G before, at least in Southwestern Europe and Italy. However, I don't think that the data really supports I2a1a being a latecomer... more likely it's a Paleolithic remnant that picked up farming once it spread to the Southwest of Europe and then expanded within the new Neolithic farming culture.

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    Quote Originally Posted by ElHorsto View Post
    Thats kind of surprising, since Ötzi is believed to be from Remedello Culture, as Maciamo found out from the Tyrol Museum's web page. But according to Wikipedia, Remedello Culture is Indo-European (http://en.wikipedia.org/wiki/Remedello_culture), not quite expected as heritage of todays Sardinians. Possibly Remedello Culture peoples were local natives who adopted Indo-European culture then?
    The Remedello Culture could not have been Indo-European, at least not during the chalcolithic period contemporary of Ötzi.
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    2 out of 2 members found this post helpful.
    So far, in the absence of the downloadable genome of Ötzi, we have not learned much that we didn't already know. It is just confirmed that Ötzi is autosomally closer to Sardinians than any other European population, but that is only to be expected since the Sardinians were already known to be the European population least influenced by outside migrations since the Neolithic. It doesn't mean that Ötzi was from Sardinia, but rather that a lot of southern Europeans at the time were more like modern Sardinians: dark haired, dark eyed, lactose intolerant and having a higher incidence of Y-haplogroups G2a and I2a than what is common nowadays elsewhere.

    The only thing Ötzi's data seem to have confirmed is that there was a major population replacement after his time, therefore from the Bronze Age onwards. I think we shouldn't underestimate the demographic upheavals caused by iron weapons. I have often explained how the elitist, patriarchal Bronze Age society could have caused the dominant male lineages to monopolise women for the purpose of reproduction. The Iron Age society was very different. Iron was so cheap and readily available compared to bronze (copper and tin) that it allowed for the first time most men who possessed the technology and natural resources to carry state-of-the-art weapons. This could have permitted entire tribes to exterminate the men of other tribes during wars and caused a rapid male population replacement. This may explain the success of the Alpine Celtic expansion, as well as the Greek colonisation and Roman conquest. I think that even if R1b Indo-Europeans arrived in the Bronze Age in Central and Western Europe, some subclades of R1b (notably S28/U152) as well as hg J2 could have had significant re-expansions during the Iron Age. These successive (male) population replacements would have progressively made continental Europeans more and more genetically different from isolated populations like Sardinians.

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    I read an article a while back:

    "LONDON (Reuters) – "Otzi," Italy's prehistoric iceman, probably does not have any modern day descendants, according to a study published Thursday."

    Does this still stand with the new information that was just released?

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    Quote Originally Posted by Maciamo View Post
    These successive (male) population replacements would have progressively made continental Europeans more and more genetically different from isolated populations like Sardinians.
    We now have to know wether Sardinian are neolithic or paleolithic isolated populations.

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    Quote Originally Posted by spongetaro View Post
    We now have to know wether Sardinian are neolithic or paleolithic isolated populations.
    I've read that there isn't evidence of permanent settlement in Sardinia dating to the Paleolithic.

    Their Y-DNA haplogroups include a lot of Neolithic newcomers to Europe (G2a) and Paleolithic remnants that expanded from elsewhere in Southern Europe once the Neolithic came (I2a1a). That, I think, gives us a clue.

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    Quote Originally Posted by Ramses II View Post
    I read an article a while back:

    "LONDON (Reuters) – "Otzi," Italy's prehistoric iceman, probably does not have any modern day descendants, according to a study published Thursday."

    Does this still stand with the new information that was just released?
    I don't know what it means, do they talk about his subclade mtdna k1ö which seems vanished ?

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    Aaaaand we've got Dodecad analyses! Recall that Maciamo had predicted:

    Quote Originally Posted by Maciamo View Post
    Autosomally I expect Ötzi to be predominantly West Asian and Mediterranean; perhaps 50-50, or up to 70% West Asian, although it's hard to say since it is unclear what the Dodecad "Mediterranean" element comprises.
    I had predicted:

    Quote Originally Posted by sparkey View Post
    Autosomally more mixed than may be expected, since I don't think that Dodecad components represent specific ancient populations precisely... I'll be contrary to Maciamo and guess that Mediterranean is higher than West Asian, with my thought being that R1b peoples (presumably post-Ötzi) probably brought a sizable amount of the current West Asian component in the area.
    Knovas:

    Quote Originally Posted by Knovas View Post
    If he was a recent inmigrant from Anatolia, I don't expect more than 30% Mediterranean in him since it's clearly linked to Europe. My guess is he might be 60% West Asian, 15% Mediterranean, 15% West European, 5% East European...and the rest Southwest Asian. I supose he was a bit mixed with locals.
    And Bodin:

    Quote Originally Posted by Bodin View Post
    60% Mediteranian , 20% West Asian , 20% East European
    The results? Per Dienekes, who has a very detailed initial analysis posted:

    Quote Originally Posted by Dienekes
    K=7

    Oetzi turns out to be 51.9% "Southern" and 43.1% "Atlantic_Baltic" in the K=7 analysis, with noise levels of the other components. The salient point is that he seems to be lacking the "West Asian" component, unlike most Europeans, except Basques and Sardinians, who have:

    Basques: 27.6% "Southern" and 69.5% "Atlantic_Baltic"
    Sardinians: 46.2% "Southern" and 52% "Atlantic_Baltic"

    So, Oetzi does appear to be most Sardinian-like in this analysis, and indeed to be a little more "Southern" than extant Sardinians. This is consistent with Keller et al. (2012) which finds him to cluster with Sardinians and to be a bit more "southern" (in PCA space) than Sardinians.

    K=12





    Oetzi turns out to be 57.7% "Atlantic_Med" and 22.3% "Caucasus" in this analysis. Once again, this makes him quite similar to Sardinians who are 64.9% "Atlantic_Med" and 21.3% "Caucasus". Two components are salient in their absence: the "Gedrosia" component which is present in non-Sardinian modern Italians, and the "North_European" component which is also present in the same.
    I would also note that the West Asian component was, in total, 1.4% for Ötzi. Looks like R1b peoples really did bring all that West Asian admixture we see in Europe today.

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    I wonder. The more precise K12 analysis gives both Oetzi and modern Sardinians a much higher "Caucasus" component than what exists in other European populations. Or do you mean "Gedrosian" when you say "West Asian"?

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    Quote Originally Posted by razor View Post
    I wonder. The more precise K12 analysis gives both Oetzi and modern Sardinians a much higher "Caucasus" component than what exists in other European populations. Or do you mean "Gedrosian" when you say "West Asian"?
    I was thinking of K7. In K12, I think that indicates "Gedrosian" most importantly, and also possibly "North European" to some degree.

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    I's good that we finally have Ötzi's genome to run in the Dodecad. I would have liked to see the results for the K=12 admixtures, which I used for the autosomal maps. Instead, we have the K7b and K12b, which are quite different and IMO less useful. There is no West Asian Asian component in K12b. But overall it seems that Ötzi was mostly Palaeolithic South European (which is mostly Mediterranean in K12) with a substantial Caucasian admixture (which is part of the West Asian admixture in K12). So I got my two main component right, but the proportion inverted.

    Ötzi's DNA could be from 30% to 42% of Neolithic immigrant origin. There is little doubt that the Caucasian (22.3%) and Southwest Asian (7.6%) admixtures are from Neolithic farmers. We could also probably add the South Asian (1.5%), East African (2.4%) and Northwest African (5.7%) in the Neolithic package, as these tend to be higher in the Levant. It is also possible that the Southeast Asian (2%), if it is correct, is a Palaeolithic remnant from an isolated nomadic group that ended up in the Middle East. Anyway it is far more likely to be from the east than from the west.

    I think that these elements are enough to support the theory that Neolithic culture did indeed spread through migration from the Middle East. It is likely though that Neolithic farmers mixed with indigenous European populations as they advanced, progressively diluting West Asian blood as we move toward the Atlantic. It also supports the idea that it was men in Neolithic societies that migrated and took local wives, while women tended to stay where they were born. This explains why Near Eastern Y-DNA haplogroups (G2a, E1b1b, J) are considerably higher in Sardinia or Iberia than Near Eastern autosomes.


    As I thought Ötzi doesn't have any North European admixture (in K12b) because his culture pre-dates the Indo-European invasions. Nowadays this North European admixture is found in 27% of North Italian, the geographic location of Ötzi. Germans have 45% of it. Only Sardinians almost completely lack this admixture (1%).

    The absence of the Gedrosia admixture in K12b is perhaps the most interesting because it is found in all modern Europeans except in Sardinians and Lithuanians, which are respectively the populations with the lowest and highest levels of North European admixture ! Gedrosia being a region essentially populated by Y-haplogroups G and J, it is not a surprise to find it absent in Lithuanians, who have 0% of either G or J. It is however surprising for Sardinians, who have 15% of G and 12.5% of J. This is a good reminder that Y-DNA is not always representative of autosomal admixtures.

    The question that we need to answer now is when this Gedrosian element entered Europe ? I am pretty sure that it is a blend of two or several different historical peoples that may both have originated around the Caucasus and East Anatolia. That is potentially the case of many haplogroups (R1b, G, J1, J2). Considering that the highest frequencies of Gedrosian in Europe are found in the Northwest (British Isles, Benelux, France), I would associate it with R1b. In the Middle East and South Asia, it would be the total of R1b, G, J1, J2, which explains why it is so much higher. However, I don't think that R1b people were entirely "Gedrosian". More likely they carried a small percentage of it along other admixtures, such as the North European.

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    In any case I think I'll wait until we have more aDNA available before drawing any definitive conclusions about these issues. The absence of "Gedrosia" in Oetzi and the Sardinians doesn't yet imply its absence elsewhere. That may very well be true. It may also very well be false. Caution is still the order of the day methinks.

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    Quote Originally Posted by Maciamo View Post
    The question that we need to answer now is when this Gedrosian element entered Europe ? I am pretty sure that it is a blend of two or several different historical peoples that may both have originated around the Caucasus and East Anatolia. That is potentially the case of many haplogroups (R1b, G, J1, J2). Considering that the highest frequencies of Gedrosian in Europe are found in the Northwest (British Isles, Benelux, France), I would associate it with R1b. In the Middle East and South Asia, it would be the total of R1b, G, J1, J2, which explains why it is so much higher. However, I don't think that R1b people were entirely "Gedrosian". More likely they carried a small percentage of it along other admixtures, such as the North European.
    What is interesting is that Bell Beaker are said to have had a dinaric elite, sometimes called "armenoid". I would not be surprised if Tin and copper prospector from Caucasus where G,J1 and J2 are numerous started the Bell Beakers in western Europe, carrying the Gedrosian admixture

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    Quote Originally Posted by spongetaro View Post
    What is interesting is that Bell Beaker are said to have had a dinaric elite, sometimes called "armenoid". I would not be surprised if Tin and copper prospector from Caucasus where G,J1 and J2 are numerous started the Bell Beakers in western Europe, carrying the Gedrosian admixture
    Gedrosia is actually more present in Northern Europeans than in Southern Europeans, so no, it certianly not associated with G, J1 and J2, despite the fact that the peaking area of Gedrosia is heavy in said haplogroups.

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    According to me the "Gedrosia" component has something to do with Central Asia and to be more precisely with the speakers of East Iranic language like Scythians. But then again I don't understand why East European don't have that Gedrosian component.

    ???

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    Quote Originally Posted by sparkey View Post
    I would also note that the West Asian component was, in total, 1.4% for Ötzi. Looks like R1b peoples really did bring all that West Asian admixture we see in Europe today.
    Considering that the K7b run probably gives a better idea of the real West Asian (no correlation in some cases with the K12b experiment), I definitely agree with your analysis.

    I expected a very different picture. Surprising the strong connection with present Sardinians.

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