DNA Mutation Rate

The pattern of DNA mutation rate in nuclear DNA and mitochondrial DNA (mtDNA) is widely important to studies of human evolution and to forensic identity testing. Here, we report a direct measurement of the mutation rate in DNA.

We compared DNA sequences of two segments from close maternal relatives, from 134 independent mtDNA lineages spanning 327 generational events. Ten substitutions were observed, resulting in a rate of 1/33 generations. This is roughly twenty-fold higher than estimates derived from phylogenetic analyses. This is not accounted for by substitutions at mutational hot spots, suggesting additional factors that produce the discrepancy between very near-term and long-term apparent rates of sequence divergence. The data also indicate that extremely rapid segregation of code sequence variants between generations is common in humans, with a very small mtDNA bottleneck. These results have implications for forensic applications and studies of human evolution.

The mutation rate reported is much higher compared to rates concluded from evolutionary studies. According to evolution research, our maternal MRCA (Most Recent Common Ancestor) is 140,000 years old. Using this new progressive technology and study to calibrate the mtDNA molecular clock would result in an age of the maternal MRCA of only 6,500 years old, clearly incompatible with the known age of modern humans.

 

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