The mutation rate in human evolution and demographic inference

• Published in: Current opinion in genetics & development Vol. 41; pp. 36 - 43
• Main Author: Scally, Aylwyn
• Format: Journal Article
• Language: English
• Published: England Elsevier Ltd 01-12-2016
• Subjects: Animals; Demography; Evolution, Molecular; Genetic Variation; Germ-Line Mutation - genetics; Hominidae - genetics; Humans; Medical Education; Mutation Rate
• ISSN: 0959-437X; 1879-0380
• DOI: 10.1016/j.gde.2016.07.008

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 × 10−9 bp−1 year−1 in all human or hominin demographic analyses.