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High genomic deleterious mutation rates in hominids

Author

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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)

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.

Suggested Citation

  • Adam Eyre-Walker & Peter D. Keightley, 1999. "High genomic deleterious mutation rates in hominids," Nature, Nature, vol. 397(6717), pages 344-347, January.
    • Handle: RePEc:nat:nature:v:397:y:1999:i:6717:d:10.1038_16915
    DOI: 10.1038/16915
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    Cited by:

    1. Rachel A Myers & Ferran Casals & Julie Gauthier & Fadi F Hamdan & Jon Keebler & Adam R Boyko & Carlos D Bustamante & Amelie M Piton & Dan Spiegelman & Edouard Henrion & Martine Zilversmit & Julie Huss, 2011. "A Population Genetic Approach to Mapping Neurological Disorder Genes Using Deep Resequencing," PLOS Genetics, Public Library of Science, vol. 7(2), pages 1-10, February.
    2. Noah Dukler & Mehreen R. Mughal & Ritika Ramani & Yi-Fei Huang & Adam Siepel, 2022. "Extreme purifying selection against point mutations in the human genome," Nature Communications, Nature, vol. 13(1), pages 1-12, December.

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