It is now possible to make direct measurements of the mutation rate in modern humans using next-generation sequencing. These measurements reveal a value that is approximately half of that previously derived from fossil calibration, and this has implications for our understanding of demographic events in human evolution and other aspects of population genetics. Here, we discuss the implications of a lower-than-expected mutation rate in relation to the timescale of human evolution.
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We would like to acknowledge discussions with attendees at the Workshop on Coancestry, Association and Population Genomics at the Institute for Pure and Applied Mathematics, University of California, Los Angeles, November 2011, where these ideas were initially presented. We also thank T. Kivisild for comments. The authors were supported by Wellcome Trust grant WT098051.
The authors declare no competing financial interests.
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Revising the human mutation rate: implications for understanding human evolution (PDF 152 kb)
- Effective population sizes
(Ne). Indicate how many individuals actually contribute alleles to the next generation, as opposed to the total number of individuals in a population. The expected time to the most recent common ancestor of two individual copies of a locus is proportional to Ne.
- Hominoid slowdown
The phenomenon in which shorter phylogenetic branch lengths are found within apes relative to other primate lineages.
Branches of the mitochondrial DNA phylogenetic tree that comprise a collection of related haplotypes. Each haplotype represents a unique pattern of DNA substitutions.
When two genetic lineages find a common ancestor.
- Homo heidelbergensis
Fossil hominin predominantly found in Europe but also in Africa that typically dates to 400,000–600,000 years ago and a possible ancestor of both Neanderthals and modern Homo sapiens.
- Recent African origin model
(RAO model). A model of human origins in which the transition from archaic forms to modern Homo sapiens occurred solely within Africa, followed later by migration out of Africa and dispersal across Eurasia.
Indigenous people of the Kalahari desert in Southern Africa.
- Molecular clock
The idea that nucleotide substitutions accumulate at a constant rate over time and that this rate can therefore be used to estimate divergence times between sequences.
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Scally, A., Durbin, R. Revising the human mutation rate: implications for understanding human evolution. Nat Rev Genet 13, 745–753 (2012). https://doi.org/10.1038/nrg3295
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