Germ Line Mutation Rates in Old World Monkeys


Mutations that occur in the germ line are the ultimate source of genetic variation upon which natural selection can act. As such, an understanding of the germ line mutation rate is crucial for interpreting evolutionary processes and products, whether in response to emerging infectious disease or climate change. Even in closely related species such as primates, substantial variation exists in both mutation rates as well as the mutational spectra, partially owing to differences in life history traits. Though considerable attention has been given to humans and other great apes in these characterisations, Old World monkeys represent an excellent and underutilised model system to investigate the extent and time scale at which mutation rates have evolved across the primate clade.

Key Concepts

  • Mutation rates are influenced by a variety of genetic factors, evolutionary processes and life history traits – many of which differ between primate species. As a consequence, studying the evolution of mutation rate itself across the primate clade has arisen as a key research question in the field of evolutionary and population genomics.

Keywords: mutation; mutation rate; germ line; primates; Old World monkeys; evolution

Figure 1. Mutation rate variation in primates. (a) Phylogeny of selected primates, including Hominoidae (bonobos, chimpanzees, humans, gorillas, orangutans and gibbons), Old World monkeys (family Cercopithecidae) and New World monkeys (superfamily Ceboidea). Species for which mutation rate information is available are colour coded, the remainder are represented in grey. Numbers indicate the time of divergence provided in millions of years. Topology and divergence times were taken from Perelman et al. (Supplementary Information, Tree #5). (b) Estimates of mutation rate (μ) per base pair per generation for several primate species plotted as function of their sequence divergence from humans. Colours denote taxon; shapes denote the approach used to estimate mutation rate. Mutation rate estimates were taken from Fischer et al. ; Thalmann et al. ; Hernandez et al. ; Evans et al. ; Wegmann and Excoffier ; Boissinot et al. ; Ségurel et al., ; Moorjani et al., ; Jónsson et al. ; Narasimhan et al. ; Pfeifer ; and Tatsumoto et al. . The Boissinot et al. mutation rate estimate for baboons of 7.6 × 10−10 per base pair per year was converted to 6.08 × 10−9 per base pair per generation using a generation time of 8 years (Charpentier et al., ). Sequence divergence was calculated as pairwise distance between tips using branch lengths of the phylogeny from Perelman et al. .
Figure 2. Approaches to estimate mutation rates. (a) Indirect approach: The phylogenetic approach measures phylogenetic distances by calculating the number of substitutions at putatively neutral sites (indicated as stars) that have accumulated in independent lineages between pairs of taxa. Coloured stars indicate species‐specific substitutions; black stars indicate substitutions in the ancestral linage. Given an independent estimate of the split time from securely dated fossils, mutation rates are then estimated from the number of substitutions that accumulated between species. The topology was taken from Perelman et al. (Supplementary Information, Tree #5). (b) Direct approach: Mutation rates are estimated by sequencing the genome of a pedigree (father: square, mother: circle, and child: diamond) to identify mutations present in offspring but not their parents (i.e. de novo mutations, shown as yellow stars).


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Tran, Lucy AP, and Pfeifer, Susanne P(Oct 2018) Germ Line Mutation Rates in Old World Monkeys. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0028242]