High genomic deleterious mutation rates in hominids

Eyre-Walker, Adam and Keightley, Peter D (1999) High genomic deleterious mutation rates in hominids. Nature, 397. pp. 344-347. ISSN 0028-0836

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Abstract

t 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.

Item Type: Article
Additional Information: First accurate estimate of the minimum deleterious mutation rate in hominids. Paper received extensive coverage in the scientific and popular press (approx 25 newspapers radio stations and TV stations).
Schools and Departments: School of Life Sciences > Evolution, Behaviour and Environment
Depositing User: Adam Eyre-Walker
Date Deposited: 06 Feb 2012 21:29
Last Modified: 23 Mar 2012 08:48
URI: http://srodev.sussex.ac.uk/id/eprint/31455
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