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Revising the human mutation rate: implications for understanding human evolution

Nature Reviews Genetics volume 13, pages 745–753 (2012)Cite this article

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An Erratum to this article was published on 19 September 2012

This article has been updated

Abstract

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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Figure 1: Decreasing mutation rates during great ape evolution.
Figure 2: Timeline of evidence for modern human divergence from Neanderthals and Denisovans.
Figure 3: Timeline of evidence for the divergence of modern human populations.
Figure 4: Populations and timescales involved in the origin of modern humans according to our revised model.

Change history

  • 19 September 2012

    In the second paragraph of the subsection entitled 'African and non-African split' in this article, both instances of the range '60,000–120,000 years ago' were incorrectly written as '120,000–160,000 years ago'. The editors apologize for this mistake.

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Acknowledgements

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.

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  1. Wellcome Trust Sanger Institute, Hinxton, UK

    Aylwyn Scally & Richard Durbin

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  1. Aylwyn Scally
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Correspondence to Aylwyn Scally or Richard Durbin.

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Supplementary information

Supplementary information S1 (table)

Revising the human mutation rate: implications for understanding human evolution (PDF 152 kb)

Glossary

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.

Haplogroups

Branches of the mitochondrial DNA phylogenetic tree that comprise a collection of related haplotypes. Each haplotype represents a unique pattern of DNA substitutions.

Coalescence

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.

Khoe–San

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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