Human Mutation Rate

I haven't had time to fully research this, but I read in a blog post on pharyngula that there are around 150 mutations per generation per individual in the human genome. This little statement peaked my curiosity, so I decided to do a little digging and see if I could confirm it:

Estimate of the Mutation Rate per Nucleotide in Humans -- Nachman and Crowell 156 (1): 297 -- Genetics

They were wrong, the rate of mutation in the human genome is ~2.5 x 10-8 per nucleotide site which equates to an average of 175 mutations per individual per 20-year generation.

This fact I haven't corroborated yet: Human mitochondrial DNA has been estimated to have mutation rates of ~3×10-6 or ~2.7×10-5 per base per 20 year generation (depending on the method of estimation)

http://www.genetics.org/cgi/reprint/152/3/1079

That's the reference for the above factlet, I haven't had time yet to go through it.

There are large uncertainties on any current estimate of the human mutation rate. The single-base substitution rate is probably between 1.5 and 2.5 x 10-8 mutations/bp/generation, plus roughly another 20% for insertions and deletions. To really measure the rate, we need deep, accurate sequencing of both parents and offspring, so we can directly count the number of new mutations. With pilot data from the Thousand Genomes Project, we now have the deep sequencing of a couple of families; whether we can actually get the required accuracy to pick out the two mutations per 100 million base pairs, over a representative sample of the genome, is a little unclear at the moment. I know people are trying, by doing a lot of follow-up study to validate mutations.

No surprise, you're all a bunch of mutants : Pharyngula

This popped on pharyngula after I made this post, ironic.

It's in the neighbourhood of ~150, scientists counted the mutations on the Y chromosome in a set of related men:

"The only thing new in this recent study is that they sequenced the Y chromosomes of a group of related men and directly tallied up the new mutations, confirming that the previous calculations were roughly correct."