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The mutation rate in human evolution and demographic inference.

Accepted version
Peer-reviewed

Type

Article

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Authors

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

Volume Title

Publisher

Elsevier BV
Sponsorship
Isaac Newton Trust/Wellcome Trust ISSF Joint Research Grant.