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What is the human mutation rate?

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Last spring I wrote about a study that used whole-genome comparisons between parents and offspring to estimate the rate of per-genome mutation in humans ("A low human mutation rate may throw everything out of whack").

The study was by Jared Roach and colleagues [1], and as you might guess from my post title, the result was surprising. Previous work had suggested a human mutation rate around 2.5 x 10-8 per site per generation. The new study found less than half the expected number of mutations between these parents and offspring, an estimated rate of only 1.1 x 10-8 per site.

If this lower rate of mutation were to hold up, it would affect much of our understanding of the chronology of human evolution. Fossils and archaeological sites would not change in date, but some hypotheses about their relationships would be challenged. For example, the higher rate of 2.5 x 10-8 per site suggests a chimpanzee-human population divergence around 4 million years ago. A new rate of 1.1 x 10-8 would not have a linear effect on this divergence time -- the genes don't have genealogical roots at the same instant as the population divergence. But the human-chimpanzee divergence time would be radically higher than in many recent estimates.

The same might be true for other primate divergences, and for genealogical relations within human populations today. Basically any times that are estimated from genetic differences may be affected by our knowledge of the per-generation rate of mutations.

What does this mean? Open below the fold to read more.


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