Direct estimate of the spontaneous germ line mutation rate in African green monkeys

2017/10/25 by Susanne P. Pfeifer · 60 citations
Agricultural and Biological Sciences · Biochemistry, Genetics and Molecular Biology · #Biology #Chromosomal and Genetic Variations #Demography #Ecology #Effective population size #Evolution and Genetic Dynamics #Evolutionary biology #Gene #Genetic diversity and population structure #Genetic variation #Genetics #Mutation #Mutation rate #Pedigree chart #Point mutation #Population #Primate

paper · open access · doi:10.1111/evo.13383

published in Evolution 71(12), 2858-2870 (Oxford University Press)

openalex publication_date 2017/10/25 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/22

Abstract

Here, I provide the first direct estimate of the spontaneous mutation rate in an Old World monkey, using a seven individual, three‐generation pedigree of African green monkeys. Eight de novo mutations were identified within ∼1.5 Gbp of accessible genome, corresponding to an estimated point mutation rate of 0.94 × 10−8 per site per generation, suggesting an effective population size of ∼12000 for the species. This estimation represents a significant improvement in our knowledge of the population genetics of the African green monkey, one of the most important nonhuman primate models in biomedical research. Furthermore, by comparing mutation rates in Old World monkeys with the only other direct estimates in primates to date–humans and chimpanzees–it is possible to uniquely address how mutation rates have evolved over longer time scales. While the estimated spontaneous mutation rate for African green monkeys is slightly lower than the rate of 1.2 × 10−8 per base pair per generation reported in chimpanzees, it is similar to the lower range of rates of 0.96 × 10−8–1.28 × 10−8 per base pair per generation recently estimated from whole genome pedigrees in humans. This result suggests a long‐term constraint on mutation rate that is quite different from similar evidence pertaining to recombination rate evolution in primates.

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