This striking increase in mutation rate was due to acquiring a mutator phenotype during the latter period [ 13].
Overall, RAS mutation rate was 32.9%.
The mutation rate was set to 2 × 10−8.
The peak in the mutation rate was more prominent when the mutation rate was adjusted for the number of mutations that accumulated between the sampling points.
The mutation rate was 1.1 × 10−6 SNV/bp/year in the first patient prior to acquisition of the mutS mutation.
The most plausible explanation seems to be the latter, mainly because a 'Europe-restricted' high mutation rate was judged extremely unlikely, although it was never directly disproved.
The mutation rate was ≤1 × 10−10 for the hypermutable derivative, far below the lowest recombination value (6 × 10−9 for WT, 15% non-identical sequences).
The prior normal distribution for mutation rate was estimated based on six previously published mutation rates for mtDNA coding region41,42,43,44,45,46. Resulting mean mutation rate was μ = 1.546 × 10−8 ± 3.675 × 10−9 (SD) substitutions per base pair per year.
The estimated mutation rate was 1.74 × 10-6 basubstitutionsons per site per regeneration.
The mtDNA 3243A>G mutation rate was determined by RFLP analysis and Sanger sequencing.
Thus, the mutation rate was 10.5 ± 1.0 × 10-7, about 60- to 350-fold higher than the spontaneous mutation rate.
