John Hawks1 has a long and very interesting post on the human mutation rate — not just the actual number (which turns out to be less well documented and much more slippery than I had realized), but the techniques used to calculate the rate, and difficulties therein.
So much of the literature in this area is ultimately circular, I’m pulling out my sparse hair reading through it. By the time we get back to the mid-1990’s, the sequence data are even sparser than my hair by today’s standards — only a few hundred base pairs, or a sampling of restriction sites. But the divergence time estimates have propagated forward from that time to today, recycled through the assumptions of papers in the intervening time. It’s like the genetic equivalent of money laundering!
Conceptually, it’s very reminiscent of the questions about viral mutation rates, although the technical barriers are quite different and (especially for RNA viruses!) the mutation rates are vastly different. For example, Hawks’ post talks about which edge of a two-fold range the human mutation rate falls on — between 2.5 x 10-8 and 1.1 x 10-8 mutations per site; in a table I’ve used before we see a ten-thousand-fold range for poliovirus error rate estimates.
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| RNA virus mutation rates 2 |
I have to get my kids ready for school now, so I don’t have time to talk about the techniques here — it’s notable that sequencing, though much easier on the tiny viral genomes than on the much vaster human scale, hasn’t completely resolved the issue, though the variation gets smaller as sequencing technology gets getter.
Here are some of my previous posts that mention replication error and mutation rates …
- Influenza variations
- Influenza variations, part II
- DNA virus quasispecies? (Probably not.)
- Norovirus mutation and evolution
- Yellow fever, stasis, and diversification
- Whose blog you should all be reading[↩]
- CASTRO, C., ARNOLD, J., & CAMERON, C. (2005). Incorporation fidelity of the viral RNA-dependent RNA polymerase: a kinetic, thermodynamic and structural perspective Virus Research, 107 (2), 141-149 DOI: 10.1016/j.virusres.2004.11.004[↩]
[…] Hawks1 has a long and very interesting post on the human mutation rate — not just the actual number […]
Human mutation? Is this for real? I hope you can provide with a much detailed post about this. I’m really curious about this one. Thanks!
@ virutal servers
The idea of a human mutation rate isn’t that weird. All forms of cancer are basically rapid human mutations…and at the end of the day the theory of evolution dictates that slight mutations will occur over time to help adapt us to our environment.
Generally speaking though, I’m not surprised that the literature on human mutation is somewhat sparse. Given that we’ve only recently mapped out the human genome, tracking human mutation is definitely in it’s pioneering stages.
Great article. If you ask me, mankind will not succumb to war, natural disasters or overpopulation, but to the smallest of adversaries; the virus. Scientists are having a harder time finding anti-viruses for the many new mutating super-viruses. Its only a matter of time before one of these super-viruses emerges to which our scientists can’t find an antivirus and mankind will become extinct like the dinosaurs.