Ötzi, the dead sea scrolls of genomics?

By Razib Khan | October 24, 2011 3:48 pm

Dienekes points me to the fact that Ewen Callaway has the dirt on what’s going on with Ötzi:

To get a better grip on his ancestry and predisposition to disease, Albert Zink, head of the Institute for Mummies and the Iceman in Bolzano, and his team sequenced Ötzi’s 3 billion base pair nuclear genome from a shard of hip bone. Their sequence covers more than 90 percent of the Iceman’s genome. Their team also analysed DNA preserved in Ötzi’s stomach in hopes of revealing the microbes that colonized his gut.

Zink says his team is keeping most of the results of these studies under wraps, pending publication. They had hoped to have the paper out in time for last week’s Mummy Congress and a television special called Iceman Murder Mystery.

His team plans to use the sequence to determine Ötzi’s status for genetic variations linked to diseases in modern humans, particularly arthrosclerosis. A full nuclear genome will also paint a more detailed picture of the Iceman’s ancestry and his relationship to present-day humans. Zink’s team will ask whether Ötzi is an ancestor of people living in Central Europe today, or whether he and his kin died out and were replaced by migrants from elsewhere, such as the Middle East. To buff up this analysis, they are analysing DNA preserved in the skeletons of other ancient inhabitants of central Europe.

~90 percent of a genome is way more than you’d need for some basic analysis and inference of relationships to contemporary populations. So what’s the big deal? No idea, but this tardiness makes me turn the needle up in terms of assuming that they found some interesting stuff. If it’s what you’d expect, why recheck and beef up your analysis with as much support as you can find? Of course, I hope that they found some interesting stuff, so I shouldn’t trust my own judgments in this area. My own suspicion is that they have found extensive genetic turnover over the past 6,000 years in Western Europe, and they are using modern and ancient samples to flesh-out their model. The two dominant paternal haplogroups in Europe today, R1a and R1b, are suspiciously scarce in the ancient DNA samples.

CATEGORIZED UNDER: Genomics, Human Genomics
MORE ABOUT: Ötzi, Ötzi the Iceman

Comments (9)

  1. Dwight E. Howell

    I’m starting to sea Europe as a trap into which various groups expand only to get over run and largely replaced.

    After the first population of humans moved in even if they rampantly hybridized with the next wave
    when the next wave after them came along most of their genes would get selected out and I’m thinking this process has been repeated with various degrees of completeness some huge number of times.

    Of course I’ll change my opinions to match whatever the genes show actually happened but for now that’s my theory and I’m sticking with it.

  2. As a fellow G2a of European extraction, I can’t wait to see what work this paper has done on that Y haplogroup. The posturing, however, reminds me more of Zahi Hawass and I cringe. After I watched that goof destroy the gorgeous and well preserved bead work on top of a dynastic mummy for the sake of a photo-op for the waiting HD cameras and LIVE LIVE LIVE coverage, it as clear to me that such media grand standing wasn’t annoying but benign, it was bad and dangerous for science.

  3. Paul Ó Duḃṫaiġ

    With regards to R1b about 70% of Irishmen for example belong to L21 clade of R1b, the folks doing TMRCA calculations tend to reckon that L21 is only about 4,000 years old. Ireland has been inhabited fro about 8-10k years in comparison!

  4. Eurologist

    If they can get useful autosomal data from other ancient skeletons, that would be hugely important. The thing is, with just one sample you can’t really say much, at all – especially, if Ötzi’s ancestry appears more closely related to a distant region.

    In today’s European autosomal DNA I see no evidence of much turnover since the Chalcolithic, perhaps a slight increase of Western Asian and “Red Sea” composition, mostly in southern Europe. Ultimately of course the holy grail is autosomal DNA from before the arrival of agriculture, for comparison.

  5. The thing is, with just one sample you can’t really say much, at all – especially, if Ötzi’s ancestry appears more closely related to a distant region.

    depends on what you mean to say. as you have to one know one individual’s genome can be highly informative of all sorts of things.

  6. Justin Giancola

    I would’ve posted this in the previous thread but it was closed, but I found out what resolves this long discrepancy regarding our East Asian friends and mares milk.

    “During fermentation, the lactose in mare’s milk is converted into lactic acid, ethanol and carbon dioxide, and the milk becomes an accessible source of nutrition for people who are lactose intolerant.[10]

    Before fermentation, mare’s milk has almost 40% more lactose than cow’s milk.[11] According to one modern source, “unfermented mare’s milk is generally not drunk”, because it is a strong laxative.[1] Varro’s On Agriculture, from the 1st century BC, also mentions this: “as a laxative the best is mare’s milk, then donkey’s milk, cow’s milk, and finally goat’s milk…”;[12] drinking six ounces (190 ml) a day would be enough to give a lactose-intolerant person severe intestinal symptoms.”


  7. Eurologist


    I meant that in the context of European population history, a single data point doesn’t give you all that much information. Of course, if the autosomal DNA turns out to be very close to some current northern Italians, then you have some indication of continuity. But if it is a surprise and quite removed, then you really don’t know at all what is going on until you have more data points.

    As I pointed out in another post, it is quite intriguing that when you take “a left” going upstream from the Danube at any of the larger rivers, you always end up in South Tyrol. So, I am in particular curious if there is a connection to the northern Balkans; Ötzi’s y-DNA G2 already suggests such a link. Of course, so much has changed there in historic times alone, one might need to go into a village, say, at the border between Albania and Montenegro to establish a connection.

    As to mare’s milk, yes, that is well known: steppe people fermented it to be able to drink it.

  8. pconroy

    in terms of potential interesting stuff, perhaps they were referring to something from this snippet, as quoted by Dienekes:

    Interesting tidbit from David Reich’s talk, referring to the earliest ANI/ASI work: “We now know in unpublished work from our laboratory that Europeans are anciently mixed just like South Asians”.


  9. Sandgroper

Discover's Newsletter

Sign up to get the latest science news delivered weekly right to your inbox!

Gene Expression

This blog is about evolution, genetics, genomics and their interstices. Please beware that comments are aggressively moderated. Uncivil or churlish comments will likely get you banned immediately, so make any contribution count!

About Razib Khan

I have degrees in biology and biochemistry, a passion for genetics, history, and philosophy, and shrimp is my favorite food. In relation to nationality I'm a American Northwesterner, in politics I'm a reactionary, and as for religion I have none (I'm an atheist). If you want to know more, see the links at http://www.razib.com


See More


RSS Razib’s Pinboard

Edifying books

Collapse bottom bar