The mutation rate in human evolution and demographic inference.
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Peer-reviewed
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Authors
Scally, Aylwyn https://orcid.org/0000-0002-0807-1167
Abstract
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 0.5×10-9bp-1year-1 in all human or hominin demographic analyses.
Description
Keywords
Animals, Demography, Evolution, Molecular, Genetic Variation, Germ-Line Mutation, Hominidae, Humans, Mutation Rate
Journal Title
Curr Opin Genet Dev
Conference Name
Journal ISSN
0959-437X
1879-0380
1879-0380
Volume Title
Publisher
Elsevier BV
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Sponsorship
Isaac Newton Trust/Wellcome Trust ISSF Joint Research Grant.