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."
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.)
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...
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.
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.
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
Don't forget, His Noodly Appendages must be served slightly al dente (unless you're an infidel who likes squishy appendages), and the proper attire is, of course, pirate.
The Fourth Council of Ristorante determined that there is no such thing as "slightly" al dente. It is al dente or not al dente; there is no in-between. The path to damnation is lined with compromise, and we'll have none of that here!
The Fourth Council of Ristorante determined that there is no such thing as "slightly" al dente. It is al dente or not al dente; there is no in-between. The path to damnation is lined with compromise, and we'll have none of that here!
Glory to his name, Ramen.
Just throw it at the wall and see if it sticks - that's how all important decisions are made in politics, marketing (but I repeat myself), religion, the workplace... if you used your noodle, you'd realize that!
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.
SMBC [smbc-comics.com] 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.
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.
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.
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.
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?
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.
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).
You have so many things wrong here that there is absolutely NO reason to try and correct you on it. Just so that you know, all virus incorporate their RNA/DNA back into your DNA. Some will actually excise snippets of your DNA out to replace theirs in there. And mutations are not just base pair changes, but also addition as well as deletions. Finally, just because a virus can hit any of the chromosomes does not preclude the ability to hit the y chromosomes.
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!
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.
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.
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.
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.
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.
Even if it was ammo, would you really listen to someone who believed that humans were formed from dust or a clot of blood and continue to believe the parlor tricks of old mystical texts?
I wouldn't, but some of my friends, relatives do (In addition to several of our lawmakers). I also do not avoid being an evangelist for what I consider rational thought. Therefore, I do care what BS is flowing through the collective minds of the religious crowd. It is akin to me knowing a lot more about homoeopathy than several of my acquaintances who actually believe in its efficacy. These people actually feed their babies sugar pills (I do not see how placebo effect can help babies even if that is the on
Comes as no surprise.. (Score:3, Funny)
May I opt out on the yellow spandex? (Score:4, Funny)
looks uncomfortable.
Re:May I opt out on the yellow spandex? (Score:5, Funny)
I for one, welcome us all! :)
Parent
Re:May I opt out on the yellow spandex? (Score:4, Funny)
Hey, I was wearing yellow & spandex this morning, you insensitive clod!
(I bike to work.)
Parent
Re:May I opt out on the yellow spandex? (Score:5, Funny)
Parent
Re:May I opt out on the yellow spandex? (Score:5, Funny)
Everyone knows you can't ride a bike in your regular clothes. You have to look like a total moron.
Parent
Re:May I opt out on the yellow spandex? (Score:5, Funny)
That sound isn't whistling. What you are hearing is actually laughter distorted by the Doppler effect.
Parent
Re:May I opt out on the yellow spandex? (Score:5, Funny)
It is ... now fishnets on the other hand are quite comfy....
Time to shock the family by dressing as Doctor Frank N furter again.....
Nothing like making the parents of children run screaming from the house during Halloween night.
Parent
What about non-humans? (Score:3, Interesting)
Article title seems stupid to me (Score:4, Insightful)
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....
Parent
Re: (Score:3, Insightful)
Re:Article title seems stupid to me (Score:5, Funny)
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......
Parent
Re:Article title seems stupid to me (Score:5, Informative)
Probably just didn't survive a collision with the pop-science filter very well...
Parent
Re:Article title seems stupid to me (Score:4, 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.
Parent
Re:Article title seems stupid to me (Score:4, 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.
Parent
Re:Article title seems stupid to me (Score:4, Informative)
> No, what?
>> Do you know what is the worst thing in internet?
Parent
Re: (Score:3, Interesting)
Sounds like they simply confirmed with real data what before wa
Re: (Score:3, Funny)
Yep. "Normal" is an illusory artifact of statistics and has nothing to do with empirical reality.
Aha! Evidence.... (Score:5, Funny)
And here we have scientific evidence that human mutation is working as Designed.
Weird, I'm suddenly craving a bowl of spaghetti.
Re:Aha! Evidence.... (Score:5, Funny)
Don't forget, His Noodly Appendages must be served slightly al dente (unless you're an infidel who likes squishy appendages), and the proper attire is, of course, pirate.
Parent
Re:Aha! Evidence.... (Score:4, Informative)
The Fourth Council of Ristorante determined that there is no such thing as "slightly" al dente. It is al dente or not al dente; there is no in-between. The path to damnation is lined with compromise, and we'll have none of that here!
Glory to his name, Ramen.
Parent
Re:Aha! Evidence.... (Score:5, Funny)
Just throw it at the wall and see if it sticks - that's how all important decisions are made in politics, marketing (but I repeat myself), religion, the workplace ... if you used your noodle, you'd realize that!
Parent
Re:Aha! Evidence.... (Score:4, Funny)
Sacrilege!
Not as sacreligious as the evil Spagettios, the FSM's mortal enemy.
Parent
Re: (Score:3, Funny)
Yay! Mutant Super Powers! (Score:5, Funny)
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.
Re:Yay! Mutant Super Powers! (Score:4, Informative)
I think they're a common side-effect of sickle-cell anaemia, a mutation which also provides resistance to malaria.
Parent
Quality reporting (Score:4, Informative)
SMBC [smbc-comics.com] is completely accurate on this count.
Re: (Score:3, Interesting)
SMBC [smbc-comics.com] 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.
Re:Quality reporting (Score:4, Funny)
On behalf of everyone who has never seen SMBC before, allow me to say:
Thank you.
P.S.: I hate you.
P.P.S.: If I lose my job over this, can I crash at your place?
Parent
I get 450 mutations per generation (Score:5, Interesting)
3600 mutations total
8 generations in 200 years
450 per generation
5 in protein coding section of genome
That cant be right (Score:4, Funny)
That cant be generally true otherwise all Chinese people would look identical. oh wait...
Weird Headline (Score:5, 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.
Re:Weird Headline (Score:5, 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.
Parent
Error rates (Score:3, Funny)
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, Funny)
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)
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.
Parent
A more interesting variation should be done (Score:4, Interesting)
WOW (Score:4, Informative)
Parent
Try Alabama (Score:5, Funny)
Try this in Alabama, where they can use the terms wife,mother,and daughter interchangeably.
so females evolve faster? (Score:3, Funny)
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!
Re:so females evolve faster? (Score:5, Informative)
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.
Parent
Too little, too late (Score:5, Insightful)
We've already taken control of our own evolution, for better or worse:
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 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.
"Despite many generations of separation" (Score:4, Insightful)
7-10 generations isn't that many...
Y chromosome is special (Score:4, Interesting)
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.
Re: (Score:3, Insightful)
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)
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)
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.
Re:X-Men 2 was wrong then? (Score:5, Funny)
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.
Parent
Re: (Score:3, Interesting)
Even if it was ammo, would you really listen to someone who believed that humans were formed from dust or a clot of blood and continue to believe the parlor tricks of old mystical texts?
I wouldn't, but some of my friends, relatives do (In addition to several of our lawmakers). I also do not avoid being an evangelist for what I consider rational thought. Therefore, I do care what BS is flowing through the collective minds of the religious crowd. It is akin to me knowing a lot more about homoeopathy than several of my acquaintances who actually believe in its efficacy. These people actually feed their babies sugar pills (I do not see how placebo effect can help babies even if that is the on