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All Humans Are Mutants, Say Scientists

Hugh Pickens writes "In 1935, JBS Haldane, one of the founders of modern genetics, studied a group of men with the blood disease hemophilia and speculated that there would be about 150 new mutations in each human being. Now BBC reports that scientists have used next generation sequencing technology to produce a far more direct and reliable estimate of the number of mutations by looking at thousands of genes belonging to two Chinese men who are distantly related, having shared a common ancestor who was born in 1805. To establish the rate of mutation, the team examined an area of the Y chromosome which is unique because, apart from rare mutations, the Y chromosome is passed unchanged from father to son so mutations accumulate slowly over the generations. Despite many generations of separation, researchers found only 12 differences among all the DNA letters examined. The two Y chromosomes were still identical at 10,149,073 of the 10,149,085 letters examined."

9 of 309 comments (clear)

  1. I get 450 mutations per generation by peter303 · · Score: 4, Interesting

    Y = 1/300th total chromosome
    3600 mutations total
    8 generations in 200 years
    450 per generation
    5 in protein coding section of genome

  2. Weird Headline by Alphanos · · Score: 4, Interesting

    Rather than making me think that all humans are mutants, this made me think: Wow, over a runtime of 204 years, the DNA copying process has an accuracy of 99.99988%, or an error rate of only 0.00012%.

    I think we'll be hard-pressed to replicate that level of awesomeness in computers anytime soon.

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    Alphanos
    1. Re:Weird Headline by Rich0 · · Score: 4, Interesting

      Uh, we do all the time.

      The diploid human genome is 8 gigabases. Each base encodes 2 bits of data. That is 4GB of data per genome. Let's say that a gamete is produced after 1000 generations of cells from the fertilized egg (no idea what the right number is, but I suspect that the true figure is lower). That means that 4TB of data is being copied, with an error rate of 450 bits.

      If I want I can set up two 4TB raids on my server at home (assuming I had more disk space), and issue the command dd if=/dev/mdx of=/dev/mdy bs=1M count=4000000. Then I could do a diff on the two volumes. I'd be shocked if they had any errors at all.

      These kinds of error rates are actually not all that uncommon with computers.

      Now, the 204 year bit sounds impressive, but it isn't like a piece of DNA lasted 204 years without any decay. Instead it was copied repeatedly over that time. If I copied that 4TB hard drive once every 25 years (generation time) onto a brand new drive (assuming that you could keep making them compatible) I don't think that getting the data across 200 years without any bit-flips is really that tall of an order. Sure, technology will change, but that really is a different matter, and I doubt that any commodity computer technology used in the next 200 years will do any worse than what we have today.

    2. Re:Weird Headline by coldincalifornia · · Score: 5, Interesting

      Now, the 204 year bit sounds impressive, but it isn't like a piece of DNA lasted 204 years without any decay. Instead it was copied repeatedly over that time. If I copied that 4TB hard drive once every 25 years (generation time) onto a brand new drive (assuming that you could keep making them compatible) I don't think that getting the data across 200 years without any bit-flips is really that tall of an order. Sure, technology will change, but that really is a different matter, and I doubt that any commodity computer technology used in the next 200 years will do any worse than what we have today.

      Actually, it's more than copying the drive once every 25 years, it's making a copy of data on the drive many times each day -- some where around the 100,000th copy of the drive randomly choose a copy to keep and start the process over again. With that kind of usage on a drive, the failure rate (let alone error rate) will be _much_ higher.

  3. Re:Quality reporting by piemonkey · · Score: 3, Interesting

    SMBC is completely accurate on this count.

    Yep, it's obvious that we're all mutants, how else does evolution happen? The bbc seems to have missed the point, which to me is that they've now got a decent (they claim) estimate of the rate of mutation. This is, however infinitely less interesting than the bbc title.

  4. A more interesting variation should be done by WindBourne · · Score: 3, Interesting

    Basically, they should be looking at the men that are from the same place (assuming that one of the two live in the exact same area and others ppl can be found). I think that they will find many of them have the same sets of mutations. The reason is that I believe that many of these mutations are from virus, not from random mutations. If from radiation/chemical (i.e. random), then you will not see the same mutations across ppl that exist in same area. But if from virus, you will see that many of these are similar (though possibly not in the exact same area of the strands).

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  5. Re:Article title seems stupid to me by nine-times · · Score: 3, Interesting

    Yeah, the "all humans are mutants" angle doesn't have much to it. Of course we're mutants insofar as we're the product of evolution, and evolution requires mutation. Without mutation, you wouldn't get new genetic differences to be weeded out or passed on. So yes, life is a mutation and we're all mutants.

    It will be interesting now that we could be able to sequence your DNA and your parents' DNA, figure out exactly what mutations you have (if any) from the previous generation, and possibly know what those mutations do. Maybe in the future we'll be able to map all of our genetic family trees in detail, figure out when traits were introduced, and see what patterns emerge. Maybe those random mutations aren't so random.

  6. Y chromosome is special by jesser · · Score: 3, Interesting

    The Y chromosome doesn't get to recombine, so measuring the mutation rate of the Y chromosome only gives us a limited understanding of mutations in general.

    Lack of recombination means you don't get to measure mutations that consist of genes being brought together for the first time in an individual. It also eliminates entire classes of accidental mutations. On the other hand, it removes the opportunity for some types of in-cell DNA repair.

    Furthermore, the Y chromosome is less interesting than most. It contains very few working genes, precisely because it is not subject to the most important DNA repair mechanism of all: sexual reproduction.

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  7. Re:Article title seems stupid to me by smellsofbikes · · Score: 3, Interesting

    Maybe those random mutations aren't so random.

    This is complicated and not really worth going into in depth here, but a major technique of mapping species divergence and establishing when they diverged is through mapping the number of mutations that have shown up in non-expressed DNA. The mutation rate of DNA is fairly well known (it's largely a function of the precision of the enzymes that duplicate DNA, the DNA polymerases and their error-correction fidelity, which varies between different DNA polymerases.) There are some wrinkles in that many mutations don't survive -- they're lethal -- and that's why some parts of DNA are referred to as 'conserved', because those sections can't tolerate changes. There are genes involved in vision, for instance, that have something like a 0.3% difference between insects and humans. But sections that aren't critical, or aren't used at all, chunks of old viruses that got spliced in and don't do anything, accumulate errors. Taking a quantitative diff of two DNA strants gives you a number that is proportional to how long ago the species diverged.

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