The mutation rate in human evolution and demographic inference.

Curr Opin Genet Dev

Department of Genetics, University of Cambridge, Downing Street, Cambridge CB2 3EH, United Kingdom. Electronic address:

Published: December 2016

The germline mutation rate has long been a major source of uncertainty in human evolutionary and demographic analyses based on genetic data, but estimates have improved substantially in recent years. I discuss our current knowledge of the mutation rate in humans and the underlying biological factors affecting it, which include generation time, parental age and other developmental and reproductive timescales. There is good evidence for a slowdown in mean mutation rate during great ape evolution, but not for a more recent change within the timescale of human genetic diversity. Hence, pending evidence to the contrary, it is reasonable to use a present-day rate of approximately 0.5×10bpyear in all human or hominin demographic analyses.

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http://dx.doi.org/10.1016/j.gde.2016.07.008DOI Listing

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