High genomic deleterious mutation rates in hominids

Adam Eyre-Walker () and Peter D. Keightley
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Adam Eyre-Walker: Centre for the Study of Evolution and School of Biological Sciences, University of Sussex
Peter D. Keightley: Institute of Cell, Animal and Population Biology, University of Edinburgh

Nature, 1999, vol. 397, issue 6717, 344-347

Abstract: Abstract It has been suggested that humans may suffer a high genomic deleterious mutation rate1,2. Here we test this hypothesis by applying a variant of a molecular approach3 to estimate the deleterious mutation rate in hominids from the level of selective constraint in DNA sequences. Under conservative assumptions, we estimate that an average of 4.2 amino-acid-altering mutations per diploid per generation have occurred in the human lineage since humans separated from chimpanzees. Of these mutations, we estimate that at least 38% have been eliminated by natural selection, indicating that there have been more than 1.6 new deleterious mutations per diploid genome per generation. Thus, the deleterious mutation rate specific to protein-coding sequences alone is close to the upper limit tolerable by a species such as humans that has a low reproductive rate4, indicating that the effects of deleterious mutations may have combined synergistically. Furthermore, the level of selective constraint in hominid protein-coding sequences is atypically low. A large number of slightly deleterious mutations may therefore have become fixed in hominid lineages.

Date: 1999
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DOI: 10.1038/16915

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