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Biotech Science

All Humans Are Mutants, Say Scientists 309

Posted by timothy
from the must-scramble-some-eggs dept.
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."
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All Humans Are Mutants, Say Scientists

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  • by scalpod (666558) on Wednesday September 02, 2009 @03:43PM (#29290133) Homepage
    ...to the SubGenius and Devo fans in the house.
  • by jollyreaper (513215) on Wednesday September 02, 2009 @03:43PM (#29290135)

    looks uncomfortable.

  • by Maximum Prophet (716608) on Wednesday September 02, 2009 @03:43PM (#29290143)
    Does this apply to non-humans as well?
    • by Mathinker (909784) on Wednesday September 02, 2009 @03:54PM (#29290343) Journal

      Given what we know about biology, every living thing, including viruses, are mutants (or at least descendants of mutants).

      The article title has to be one of the more braindead ones I've seen here on Slashdot, and I've been around for a while. (And somehow I don't understand how it's connected with the information in the summary.)

      OTOH, I'm real tired....

      • Re: (Score:3, Insightful)

        by Obfuscant (592200)
        Yes, I was thinking the same. The very idea of evolution is based on mutation, and Evolution requires it as well.
        • by gnick (1211984)

          I actually enjoy being a mutant. Beats the hell out of being some single-cell swamp dweller. Hell, even if you're in the 6000 year-old earth crowd, I like the fact that we've got a few more choices then would be available from pairing Adam and Eve's very limited set of chromosomes.

          • Re: (Score:3, Funny)

            by Lumpy (12016)

            sorry? but my cats and dog have it made. Sleep all day, have food handed to you, all you need to do is lay there and lick yourself.

            I'd give my thumbs for that life any day. Hell the "pretty" ones are put out to stag....

        • by supernova_hq (1014429) on Wednesday September 02, 2009 @04:51PM (#29291177)

          Yes, I was thinking the same. The very idea of evolution is based on mutation, and Evolution requires it as well.

          Unless you live in Kansas......

      • by fuzzyfuzzyfungus (1223518) on Wednesday September 02, 2009 @04:05PM (#29290481) Journal
        I'd suspect that the actual paper is probably more interesting in some way, nobody would waste time, money, and perfectly good grad students to determine that mutation does, in fact, occur in humans. Quantification of mutation rates, examination of which regions mutate quickly and which are highly conserved, and the like are all legitimate and nonobvious.

        Probably just didn't survive a collision with the pop-science filter very well...
        • by notaspy (457709)

          So they're patentable?

          "Quantification of mutation rates, examination of which regions mutate quickly and which are highly conserved, and the like are all legitimate and nonobvious."

        • by nine-times (778537) <nine.times@gmail.com> on Wednesday September 02, 2009 @04:20PM (#29290705) Homepage

          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.

          • by smellsofbikes (890263) on Wednesday September 02, 2009 @06:11PM (#29292281) Journal

            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.

          • Re: (Score:3, Interesting)

            by SETIGuy (33768)

            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.

            It would be very unlikely for you to have no (germ cell) mutations from the previous generation. It's fairly easy to arrive at an order of magnitude estimate of the number of mutations that are uniquely yours. I'll save you the math, but that number is about 10. Only about one in 25,000 people has no mutations of their own.

            Of those 10 mutations, many are in non-coding areas of DNA and tend not to cause a problem. Some will inactivate a gene, which is why we have multiple copies of every important gene

        • Re: (Score:2, Insightful)

          by Anonymous Coward

          nobody would waste...perfectly good grad students ...

          Welcome to grad school, you must be new here.

          Ever-appropriate captcha: "celled"

        • Both links, including the story on the Sanger institute's own page, suggest that this team studied only one set of relatives. I realize this is a lot of work and there aren't many people who would make good test subjects, that you knew were distant relatives. But I can't get over the idea of testing exactly one pair and making sound conclusions from it. Seems like they're assuming those 12 mutations were gradually accrued. Maybe the actual rate of mutation is much lower, except for Grandpa Li who wore a

        • Re: (Score:3, Interesting)

          by OldSoldier (168889)

          Yea and so is the summary... The very next line says that of those 12 mutations, 8 of them occurred in the lab. Only 4 occurred naturally (which btw confirms JBS Haldane's conjecture).

          What I'd like to know is WHEN those 4 occurred. Roughly 200 years since these fellows last shared an ancestor, say 10 generations. Yea.. it happens gradually but it DOES happen so... somewhere in the sequence granddad-dad-son at least one mutation occurred for someone. What was that mutation like? Did the kid not look like the

      • Re: (Score:3, Interesting)

        by thtrgremlin (1158085)
        Actually, I would expect that this applies a whole lot less to species that reproduce asexually because while mutations still occur, you do not get an opportunity to see that mutation mix and match with other combinations of genes, only clones. For example, cell 1 with mutation A and cell 2 with mutation B isn't going to breed and in future generations possibly produce cells with mutation AB but by normal chance that both could occur at random.

        Sounds like they simply confirmed with real data what before wa
        • by Obfuscant (592200)
          Actually, I would expect that this applies a whole lot less to species that reproduce asexually because while mutations still occur, you do not get an opportunity to see that mutation mix and match with other combinations of genes, only clones. For example, cell 1 with mutation A and cell 2 with mutation B isn't going to breed ...

          In short, this article doesn't apply to the normal /. reader...

      • Re: (Score:3, Funny)

        by FiloEleven (602040)

        Yep. "Normal" is an illusory artifact of statistics and has nothing to do with empirical reality.

  • "...was more difficult than finding an ant's egg in an emperor's rice store."

    I have got to work that into an ordinary conversation someday: priceless!

  • Forgive me if I'm wrong. I'm fairly sure I have at least a basic grasp of the idea of statistical sampling, as used to infer the traits of a large population using a smaller representative sample from that population. But don't you still need a sample size bigger than two to make inferences about all of humanity?

    • Re: (Score:3, Insightful)

      by poopdeville (841677)

      No. You don't. The certainty of the inference is just low. This is a fine start, and new data will be added as genetic sequencing becomes cheaper.

    • Re: (Score:3, Insightful)

      by Thinboy00 (1190815)

      Forgive me if I'm wrong. I'm fairly sure I have at least a basic grasp of the idea of statistical sampling, as used to infer the traits of a large population using a smaller representative sample from that population. But don't you still need a sample size bigger than two to make inferences about all of humanity?

      The statistics are in the number of base pairs and the amount of time since common ancestor, not the number of people. So we know that in that lineage, mutations occur at a given rate which I'm too lazy to calculate.

      • Re: (Score:3, Interesting)

        by nomadic (141991)
        The statistics are in the number of base pairs and the amount of time since common ancestor, not the number of people. So we know that in that lineage, mutations occur at a given rate which I'm too lazy to calculate.

        But it's restricted to two people, or not even that, it could be just one different ancestor. Maybe one's grandfather was exposed to radiation, or mutagenic chemicals.
    • Re: (Score:3, Insightful)

      And that is why you only have a basic grasp of statistical sampling as it is practised in the modern world.

  • by jdgeorge (18767) on Wednesday September 02, 2009 @03:46PM (#29290201)

    And here we have scientific evidence that human mutation is working as Designed.

    Weird, I'm suddenly craving a bowl of spaghetti.

  • In the movie, I seem to remember them saying that the mutations come from the father, how women are mutants I don't know. I guess they just wanted to give Pyro more lines.
    • by loteck (533317) on Wednesday September 02, 2009 @04:12PM (#29290563) Homepage

      I seem to remember them saying that the mutations come from the father, how women are mutants I don't know.

      I have shocking news for you, you may want to have a seat: women have fathers, just like men. Disturbing, I know.

      • Re: (Score:3, Funny)

        by CarpetShark (865376)

        I have shocking news for you, you may want to have a seat: women have fathers, just like men. Disturbing, I know.

        I have shocking news for you. You may want to have a seat. You've been lied to about this.

  • by spun (1352) <(moc.oohay) (ta) (yranoituloverevol)> on Wednesday September 02, 2009 @03:48PM (#29290243) Journal

    My mutant super power is my ability to get depressed and lose focus. Oh man, I wish I'd gotten that cool one that gives you resistance to malaria and painfully inflamed fingers and toes. Mine seems kinda useless by comparison.

  • So we aren't planning to go ahead with the Sentinel program I hope. Anyone have a list of politicians I can contact to try and convince them to vote no against Mutant cleansing?
  • Quality reporting (Score:4, Informative)

    by blueg3 (192743) on Wednesday September 02, 2009 @03:49PM (#29290261)

    SMBC [smbc-comics.com] is completely accurate on this count.

  • by peter303 (12292) on Wednesday September 02, 2009 @03:49PM (#29290267)
    Y = 1/300th total chromosome
    3600 mutations total
    8 generations in 200 years
    450 per generation
    5 in protein coding section of genome
    • by arielCo (995647)

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

      And no superpowers yet... :(

  • by JustNiz (692889) on Wednesday September 02, 2009 @03:49PM (#29290269)

    That cant be generally true otherwise all Chinese people would look identical. oh wait...

  • Some more than others.
  • Weird Headline (Score:5, Interesting)

    by Alphanos (596595) on Wednesday September 02, 2009 @03:55PM (#29290367)

    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.

    • Re:Weird Headline (Score:5, Interesting)

      by Rich0 (548339) on Wednesday September 02, 2009 @04:06PM (#29290485) Homepage

      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.

      • Error rates (Score:3, Funny)

        by mollog (841386)
        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.

        If you turn off the error correction and the sparing of unusable sectors, you would indeed be shocked. Here's an idea, buy some of those video disk drives that Seagate makes.
        • Re: (Score:3, Insightful)

          by shaitand (626655)

          That might be relevant if there wasn't error correction in DNA copying as well. The DNA success is with error correction.

          The flaw in his idea is that hard drives don't make it 25yrs. He data would never make it to the copy process. But then, our DNA is copied far more often than every 25 years as well, it copied thousands of times a day. So maybe the real comparison would be copying the data from his raid back and forth thousands of times a day for 25 years.

      • Re: (Score:3, Funny)

        by nine-times (778537)

        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.

        Yeah, but can you get the drives to make their own replacement drives every 25 years?

      • Re:Weird Headline (Score:5, Interesting)

        by coldincalifornia (903694) on Wednesday September 02, 2009 @04:56PM (#29291259)

        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.

      • Re: (Score:3, Insightful)

        by sonamchauhan (587356)

        > 4TB hard drive once every 25 years (generation time) onto a brand new drive

        Nope. Literally, its copying Y Chromosome data over and over trillions of times in sperm cells, one of which is then chosen at random for propagation to the next generation, where this process repeats.

        Try that with your 4 TB RAID setup. :)

    • That's of successful copies... The Y chromosome is highly conserved because there is no back up to it.

      So the successful rate is high for this highly conserved region of successful copies, but what about the non-successful mutations? E.g., All the stocks that my grandfather invested in 1900 and that are still around today, have made me a lot of money. He had a great accuracy investing rate.
    • Re: (Score:2, Interesting)

      by thpr (786837)

      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%.

      While I agree that the level of change is reasonably slow, I think you've taken the conclusion a bit too far in inferring the observed rate of change matches transcription accuracy.

      The reason I would be cautious about extending observed mutation rate to infer transcription accuracy is that there is likely to be significant selection bias, similar to how "old furniture" always appears to be great quality (because anything that isn't great quality is in a landfill). Any fatal mutations would never progres

    • by sorak (246725)

      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.

      Yeah. That is like reading an study entitled "99.99988% of bears are toilet trained" and coming up with the headline "New study show that bears crap in the woods!"

    • 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%.

      Did you include all the defective copies that resulted in no ancestors? Otherwise, I can easily claim 100% fidelity in nth-generation copies of some data by eliminating the defective copies.

  • by WindBourne (631190) on Wednesday September 02, 2009 @03:58PM (#29290397) Journal
    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).
    • "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[es], not from random mutations."

      That would be an interesting direction of investigation.

      Quote from the press release: [sanger.ac.uk] "Fortunately, most of these [mutations] are harmless and have no apparent effect on our health or appearance." They don't know that. That is ENTIRELY speculation.
  • Try Alabama (Score:5, Funny)

    by SnarfQuest (469614) on Wednesday September 02, 2009 @04:03PM (#29290451)

    Try this in Alabama, where they can use the terms wife,mother,and daughter interchangeably.

  • That's off to the sewers to all of you, mutants !

  • by v1 (525388) on Wednesday September 02, 2009 @04:12PM (#29290561) Homepage Journal

    if the y chromosome remains relatively unchanged, and the X is subject to cross splicing with other x chromosomes (from either parent) that must mean that females at least as far as the sex-linked traits are concerned) evolves much faster than males, since there's rarely any opportunity for diversity in the Y chromosome?

    So next time a woman calls you "barbaric" etc you can say Got that right!

    • by gurps_npc (621217) on Wednesday September 02, 2009 @04:17PM (#29290651) Homepage
      No. You forget that men get an X also. And they don't get a back up, so any mutation in the X is more likely to show up in men.

      In other words, the X evolves faster than the Y, and as men only get one X, anything on a single X becomes FAR more important to the men then it is to the women. It is only things that are on BOTH X chromosomes that are important to women.

    • Interesting, but as a previous poster said- the Y chromosome is only 1/300 of the total gene pool I posses. So .333% is slower to evolve, not everything that I am.

  • We are D-E-V-O!
  • by macraig (621737) <(mark.a.craig) (at) (gmail.com)> on Wednesday September 02, 2009 @04:21PM (#29290719)

    We've already taken control of our own evolution, for better or worse:

    "It is hoped that the findings may lead to new ways to reduce mutations and provide insights into human evolution."

    Does anyone else see the conflict of interest inherent in that statement? This is what we humans do: we change the system before we even understand it. We try to "cure" autism before we even grasp its genetic or evolutionary significance.

    "We are finally obtaining good reliable estimates of genetic features that are urgently needed to understand who we are genetically."

    We won't ever be able to get an accurate answer to this question: we've already been busy contaminating the evidence. We worry about seeding Mars or other planets with terrestrial microbes before we get a chance to conclusively rule out independent signs of life, but we think nothing of poisoning our own genetic well before we even understand what's down there and why.

  • by SwashbucklingCowboy (727629) on Wednesday September 02, 2009 @04:32PM (#29290893)

    7-10 generations isn't that many...

  • by jesser (77961) on Wednesday September 02, 2009 @04:36PM (#29290935) Homepage Journal

    The Y chromosome [wikipedia.org] doesn't get to recombine [wikipedia.org], 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 [wikipedia.org].

    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 [wikipedia.org] DNA repair mechanism of all: sexual reproduction.

  • Using a tiny, well-conserved region of DNA to extrapolate genome-wide mutation activity is almost meaningless.

    Are there more, fewer, or the same proportion of "jumping genes" on that chromosome as the larger genome?

    What are the relative proportions of the DNA bases? Some base substitutions are more common than others in SNPs, so if the selected region of the genome is more, or less, rich than the overall genome it will be more, or less, likely to experience mutation.

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