Assumed rate of exonic mutation?
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7.3 years ago
jellis • 0

Trying to evaluate actual percentage identity vs expected percentage identity in mammalian exomes -

There have been attempts to estimate a broad rate of mutation in the genome, see Kumar S. 2001, or Balin, S. 2010.

But given the varying rates of mutation in different regions of the chromosome and in particular the strong purifying selection in translated regions, I am looking for a rate dealing specifically with exonic regions.

Kumar, S. (2001) estimates a rate of mutation of 2.2 x 10 ^-9 per base pair, per year. I expect in exonic regions the rate will be smaller, but I can't find a publication expressing a usable number for calculations.

Anyone know otherwise??

sequence R • 1.4k views
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Not fully sure but the mutation rate should not be less in exons (assuming no DNA composition bias). It is the selection on exons which purges more mutations giving less polymorphism/divergence. Effects of linked selection would also effect synonymous sites decreasing polymorphism and divergence in those sites as well. This is a good review although old http://www.sciencedirect.com/science/article/pii/S0959437X03001461

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Thank you for your help!! :)

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