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High genomic deleterious mutation rates in hominids
1Centre for the Study of Evolution and School of Biological Sciences, University of Sussex, Brighton, UK. A.C.Eyre-Walker@susx.ac.uk
Nature
|February 9, 1999
Summary
Humans experience a high rate of new deleterious mutations, with over 1.6 per genome per generation impacting protein-coding sequences. Natural selection eliminates many, but this rate strains species with low reproductive rates.
Area of Science:
- Genomics
- Evolutionary Biology
- Molecular Biology
Background:
- Human genomic mutation rates are debated.
- Understanding deleterious mutation accumulation is crucial for evolutionary studies.
Purpose of the Study:
- To estimate the deleterious mutation rate in hominids.
- To assess the impact of natural selection on these mutations.
Main Methods:
- Applied a molecular approach using DNA sequence analysis.
- Examined the level of selective constraint in hominid protein-coding sequences.
Main Results:
- Estimated 4.2 amino-acid-altering mutations per diploid per generation in the human lineage.
- Determined that at least 38% of these mutations were eliminated by natural selection.
- Calculated over 1.6 new deleterious mutations per diploid genome per generation.
Conclusions:
- The deleterious mutation rate in protein-coding sequences is near the tolerable limit for humans.
- Synergistic effects of deleterious mutations may occur.
- Atypically low selective constraint in hominids suggests fixation of slightly deleterious mutations.
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