Slashdot Mirror


Breakthrough In Human Genetics

Many readers have submitted this story about a breakthrough in our understanding of human DNA: in particular, how much variation can exist between peoples' genes and how genes are involved with certain diseases. "One person's DNA code can be as much as 10 percent different from another's, researchers said on Wednesday in a finding that questions the idea that everyone on Earth is 99.9 percent identical genetically. They said their new version of the human genetic map, or 'book of life,' fills in many missing pages and chapters to explain how genes are involved in common diseases. The Human Genome Project mapped the billions of letters that make up the human genetic code. Scientists later refined the map by looking for single variations called SNPs or single nucleotide polymorphisms. The CNV map gives researchers a different way to look for genes linked to diseases by identifying gains, losses, and alterations in the genome."

24 of 240 comments (clear)

  1. Spelling on Slashdot by Harmonious+Botch · · Score: 5, Funny

    One person's genetic code can be 10% different from another's, and chimps are 98% the same as humans.
    No wonder so many of you can't spell.

  2. Good Science meet bad math by DrKyle · · Score: 5, Informative

    Looking at the writeup from Nature. They clearly state that these results point to maybe a 0.5% difference among individuals, or 99.5% identical. That's 20X less variation than this crap article would have you believe. The actual research deals with CNV's = copy number variants. So for a given stretch of DNA, different people in a population might have that region duplicated or triplicated which does not really allow them to make anything different, but it might alter the levels of expression of those genes. As this DNA is found in multiple copies it had largely been believed to have a low number of genes, as is the case of most highly repeated DNA, but the researchers have evidence that these repeated domains do contain a large number of unique genes. In a short summary/analogy:
    Some people are 8 feet tall.
    Some people are 4 feet tall.
    Therefore, people vary in height by 200%.

    It's obvious to see the failed logic in that case, that's the same thing here, just because 10% might potentially be variable, that doesn't mean any single person even exists at each extreme.

  3. Misunderstanding by Anonymous Coward · · Score: 5, Funny

    No, no, no, no, no... this is all just a misunderstanding of scientifical facts. You see, it's only the darker folks, whom we are 10% different from, that are 2% different from monkeys. The world was made this way intentionally, presumably by some Great, Omnipotent Designer... whatever you want to call him. I know this to be true because I learned it in a museum. In Kentucky. It was right next to the exhibit with humans and dinosaurs living together.

    Honestly folks, get it together already.

  4. Um... not quite. by Punchcardz · · Score: 5, Interesting

    "One person's DNA code can be as much as 10 percent different from another's, researchers said on Wednesday in a finding that questions the idea that everyone on Earth is 99.9 percent identical genetically." It doesn't call it into question at all. The simple matter is that how you define "different" and measure the percentages makes a big difference. The human genome is ~3 billion base pairs. You can have a singe nucleotide change in a gene of say 5000 base pairs. When you compare a given gene between individuals, do you count the whole gene as being entirely different? Or do you say that it is 99.98% (4999/5000) the same?

  5. more examples of fuzzy math by circletimessquare · · Score: 5, Funny

    1 million monkeys randomly typing typewriters = 1 shakespeare manuscript created

    monkeys and humans 98% the same, and this new genetic analysis indicates human up to 10% different, or, only 90% the same

    therefore, 98%-90% = 8% difference in monkey versus human random shakespeare manuscript creation

    8% of 1 million is 8,000

    therefore, 8,000 more monkeys than humans are required to produce one shakespeare manuscript

    it's a scientific fact folks

    (as well as all other "facts" gleaned from this 10% number in the article)

    --
    intellectual property law is philosophically incoherent. it is your moral duty to ignore it or sabotage it
  6. Re:God vs Man by timmarhy · · Score: 5, Funny

    picture someone sticking they hands over their ears and yelling LALALALALA I CANT HEAR YOU, and you will know the religous stance

    --
    If you mod me down, I will become more powerful than you can imagine....
  7. Re:God vs Man by A+beautiful+mind · · Score: 4, Funny

    There are even scarier truths in science. Imagine this:

    100% of the atoms making us up are DIFFERENT. No two person has the exact SAME atoms!!

    Oh please say it ain't true! Say it ain't true! Now I will have to meditate for half an hour in my religious beliefs just to be able to breath again!

    --
    It takes a man to suffer ignorance and smile
    Be yourself no matter what they say
  8. Re:chimpanzees=98% human by RetroRichie · · Score: 5, Funny

    We already found him. And we elected him President!

  9. On The Origin of Slashies... by Anonymous Coward · · Score: 5, Funny
    Creationists on slashdot? I thought this place only had smart people.
    And where do you think these smart people came from? Unless you seriously believe that they spontaneously appeared on slashdot fully-formed, they must have evolved from something ;)

  10. Re:Actually by nacturation · · Score: 5, Insightful

    So how is parent Offtopic?

    Because it's a creationist site whose tagline is "Upholding the authority of the bible from the very first verse." While the source generally shouldn't be taken into consideration when considering the argument, in this case it's similar to asking the KKK for informed research on black people.

    --
    Want to improve your Karma? Instead of "Post Anonymously", try the "Post Humously" option.
  11. Re:Good Science meet REALLY bad math by Boghog · · Score: 4, Funny

    OK, according to the Chromosome FAQs:
    http://www.ornl.gov/sci/techresources/Human_Genome /posters/chromosome/faqs.shtml
    The X chromosome comprises ~5% of the genome while the Y chromosome is ~1%. Since women are XX and men are XY, men and women differ by ~6%.
    If chimps are only 2% different from men, then men are more closely related to chimps than women. QED

  12. Genes probably don't matter so much by mveloso · · Score: 4, Interesting

    Even if two genomes are 100% the same, that doesn't mean that the products of each will be the same.

    Why? Gene expression can differ depending on environmental factors.

    As a simple analogy, your DNA = a cookbook. While many recipies are cooked automatically by the systems in your body, other recipies are cooked or not cooked depending on the environment in which the organism finds itself.

    I haven't read a good article on gene expression, really. Various mechanisms are alluded to in the literature, but it seems to be unclear how gene expression is or is not triggered. More specifically, researchers seem to know that this particular mechanism turns a given gene on or off, but how that mechanism is triggered is unknown (or not the focus of the article/research).

    Also, I'd guess that environmental gene expression stars in the womb - that the fetus gets clues to the external environment from the nutrients and chemicals coming from the mother and adjusts itself accordingly. You could test that by somehow getting ahold of some in-vitro twins and implanting them at different times, I guess? But there probably still would be too many variables.

  13. Re:Actually by timeOday · · Score: 4, Insightful
    So 95%, 98.6%, or 99.8% - all are correct answers in the correct context.
    ...and all irrelevant anyways, as to the issue of how different the phenotypes of chimps and humans are. Heck, the human brain is 70% water, does that mean the head is "pretty much" like a 1/3 empty coffee pot? With changes to far less than 0.2% of his DNA, Einstein could have gone from genius to a miscarriage that his mother never even noticed. It's great for medical experimentation that chimps are so similar to people, but gene sequencing doesn't suddenly make us any more or less similar than we were before.
  14. Better Article by BrickM · · Score: 4, Informative

    http://news.independent.co.uk/world/science_techno logy/article2007490.ece

    This piece gets a few of the key facts correct where reuters went wrong, such as the already-mentioned "10% vs 10x" difference between individuals. It's a great read!

  15. Re:chimpanzees=98% human by Anonymous Coward · · Score: 4, Funny

    > And we elected him President!
    Elected?

  16. Natural Selection no longer applies to humans by DeadCatX2 · · Score: 4, Interesting

    Humans have escaped the phenomenon of Natural Selection, for the most part.

    All of us who wear glasses? We should have been culled. All these people developing diabetes from eating too much sugar? Selected against. Asthma? You get the picture.

    Running with the idea that there is a higher power that created the world, I would say that Natural Selection is the method that higher power uses to figure out what works. But now with health care and a strong sense of altruism, errors in the genetic code are propagating throughout our species and wrecking havoc. In other words, we're playing god by saving lives that should have been selected against and allowing them to pass on their flawed genes.

    I also contend that if we were created by a higher power, and that higher power enabled us with the ability to modify our genetic code, then it is our right (nay, our duty) to do so; otherwise, we would lack this ability. I believe that we should selectively erase genes which cause a predisposition to things like Down Syndrome or diabetes or cancer, etc. This would effectively select against all detrimental mutations.

    This could also be the limit of Natural Selection as it tends toward infinitely fast; beneficial mutations in one human (for instance, the HIV resistance that elite supressors have) could be propagated throughout the species' genetic code in a single generation.

    Perhaps I should leave you with an example, one that even a Christian might be able to tolerate. Imagine a future where you and your s/o collect your eggs and screen them for genetic defects, like Down Syndrome. Once a viable egg has been found (and you don't have to look up what the hair color or eye color will be, you could just leave that to fate), start screening some sperm. Produce a viable fetus which will grow up to be healthy.

    Now imagine that you were one of those people who didn't do that for your kid. And now your kid is born with a gene that means they're 80% likely to die from some horrible disease by the age of 30. If I were that kid, I would be pissed at my parents for not choosing the screening option.

    --
    :(){ :|:& };:
    1. Re:Natural Selection no longer applies to humans by kripkenstein · · Score: 4, Insightful

      Humans have escaped the phenomenon of Natural Selection, for the most part.
      All of us who wear glasses? We should have been culled. [etc.]


      I disagree. Yes, the simple "the organism dies because of some trait, so there are less offspring with that trait in the next generation" is somewhat true today, as you say. But natural selection extends to much more than that.

      For starters, sexual selection. Nowadays people have LOTS of choice in selecting a partner; it is very common to have many partners and even children with multiple partners. In addition, the number of children that people have is very variable - more and more elect to have none, while some people have quite a lot. All of this allows a few 'sexually preferred' individuals to contribute to the next generation's gene pool in a significant way, first in that certain individuals have more opportunity to have children - say, because of attractiveness - and second, that the number of kids is a personal choice that varies greatly.

      Now, you talk about wearing glasses, diabetes, etc. - these are 'objective' issues that should be selected against, supposedly: "in the wild, such people would never survive". But the fact that we live in a different environment doesn't mean that OTHER selection pressures, perhaps just as strong, don't exist. They are just different.

    2. Re:Natural Selection no longer applies to humans by Burnhard · · Score: 5, Insightful

      Humans have escaped the phenomenon of Natural Selection, for the most part. All of us who wear glasses? We should have been culled. All these people developing diabetes from eating too much sugar? Selected against. Asthma? You get the picture. Running with the idea that there is a higher power that created the world, I would say that Natural Selection is the method that higher power uses to figure out what works. But now with health care and a strong sense of altruism, errors in the genetic code are propagating throughout our species and wrecking havoc. In other words, we're playing god by saving lives that should have been selected against and allowing them to pass on their flawed genes.Sorry if my first post here is highly naïve, but you are making the assumption that caring for the sick or less fortunate is not itself a trait that has been selected for in previous generations. You mention a strong sense of altruism. This trait remains in the population because it is selected for, especially as Human (and primate) populations survive as groups, not as individuals.

    3. Re:Natural Selection no longer applies to humans by Jekler · · Score: 4, Insightful

      Humans have escaped the phenomenon of Natural Selection, for the most part. All of us who wear glasses? We should have been culled. All these people developing diabetes from eating too much sugar? Selected against. Asthma? You get the picture.

      Your assertion presupposes that those genetic traits are actually inferior and not suitable for continued survival, which is unknowable until evolution has a chance to ferret them out. Poor eyesight could very well be an evolutionary advantage. Many predators have notoriously poor eyesight (for example monitor lizards and cats), but can hear/smell/taste far better which makes them great hunters and excellent candidates for evolutionary survival.

      Diabetes? Type 2 diabetes can often go untreated (medically) managed solely by exercise and diet. The abundance of society's processed foods which contain obscene amounts of sugar is the biggest enemy of type 2. So you have a genetic class of people that need to exercise more and eat healthier.

      I'm not saying that every disease is actually an advantage, but it's presumptuous of us to believe, from our limited temporal footprint in the history of evolution, that we can tell the difference between an evolutionary advantage and a weakness that should be culled. It frequently takes many thousands of years for natural selection to determine a victor in terms of evolution, and often times species we would consider inferior have prevailed over seemingly superior creatures.

      At this point in time, things we might consciously decide to cull from the gene pool with genetic modification may actually be against our own interests. One person says "We fixed his eyes", another person says "But you broke his ears".

    4. Re:Natural Selection no longer applies to humans by oliverthered · · Score: 5, Funny

      Unfortunatally it seems to be just the kind of humans you wouldn't want running around the place that are having lots of children nowadays.

      --
      thank God the internet isn't a human right.
    5. Re:Natural Selection no longer applies to humans by Almost-Retired · · Score: 5, Insightful

      And now your kid is born with a gene that means they're 80% likely to die from some horrible disease by the age of 30. If I were that kid, I would be pissed at my parents for not choosing the screening option.

      Sorry, I can't agree with that last statement, having been a step-parent to 2 of "Jerry's" kids for 17 years. Regardless of the physical problems and the fact that one has already died at age 34 of MMD, they were, and are glad to be alive. So don't try to put words in a hypothetical childs mouth, thats not what comes out when they make their wishes known.

      --
      Cheers, Gene

  17. Real world example by Jugalator · · Score: 4, Funny

    Example of a 10% different human.

    --
    Beware: In C++, your friends can see your privates!
  18. Re:Actually by mrRay720 · · Score: 5, Insightful

    Very true.

    Whenever I hear people talk about how we're "99% like a chimp", "45% like a fern", "76% like a catfish", etc. I just point out that we are not DNA. DNA is just the intruction manual on how to make us.

    A more accurate analogy would be that the user manuals for a chimp and a human are 99% similar. Considering that the first 950,000 of 1,000,000 pages are about basic body structure, chemicals, etc, that's hardly surprising.

  19. Race and genetics cont. by Dobeln · · Score: 4, Insightful

    "The only strange thing I see in your post is that people of mixed ancestors aren't cited. So I guess in your world people don't mix at all and can be precisely determined what they are."

    No, but it can be determined very accurately if people have recent (broadly speaking) ancestry in a particular part of the world.

    "Do you live in Nazi Germany, 1940?"

    Ah, the Hitler thing. How original.

    "If they do mix, how "the research" identifies them?"

    Using non-binary designations, probably. It's like colors - there is no discrete line where one color becomes another, yet people rarely go around proclaiming that "colors do not exist". Racial designations is a matter of utility and economy of information.

    When it comes to "tagging" however, the old racial classificiations remain remarkably efficient - I.e. if you compare how people self-identify with their genetic makeup, a computer will usually sort them into their own self-classified category with a high degree of precision. Certain fashionable ethnic identifiers are far less effective than racial ones, however, I.e. "hispanic".

    "My guess is that a lot of people in here or in science have a bias towards a racially segregated society, where people don't mix, just like the US and european countries."

    Ah yes, scientists are all racists - that must be it. Interestingly, this kind of exchange is rather typical, I.e:

    Scientists: "We have lots of new cool genetic data!"

    Lewontinites: "Hitler! Racism! Hitler! Racism!"

    etc. etc.