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."

Comments

I get 450 mutations per generation

[peter303]

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

Weird Headline

[Alphanos]

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

[Rich0]

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.

Re:Weird Headline

[coldincalifornia]

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.