Accumulation of spontaneous mutations in the ciliate Tetrahymena thermophila

Genetics. 2013 Oct;195(2):527-40. doi: 10.1534/genetics.113.153536. Epub 2013 Aug 9.


Knowledge of the rate and fitness effects of mutations is essential for understanding the process of evolution. Mutations are inherently difficult to study because they are rare and are frequently eliminated by natural selection. In the ciliate Tetrahymena thermophila, mutations can accumulate in the germline genome without being exposed to selection. We have conducted a mutation accumulation (MA) experiment in this species. Assuming that all mutations are deleterious and have the same effect, we estimate that the deleterious mutation rate per haploid germline genome per generation is U=0.0047 (95% credible interval: 0.0015, 0.0125), and that germline mutations decrease fitness by s=11% when expressed in a homozygous state (95% CI: 4.4%, 27%). We also estimate that deleterious mutations are partially recessive on average (h=0.26; 95% CI: -0.022, 0.62) and that the rate of lethal mutations is <10% of the deleterious mutation rate. Comparisons between the observed evolutionary responses in the germline and somatic genomes and the results from individual-based simulations of MA suggest that the two genomes have similar mutational parameters. These are the first estimates of the deleterious mutation rate and fitness effects from the eukaryotic supergroup Chromalveolata and are within the range of those of other eukaryotes.

Keywords: deleterious mutation rate; dominance; lethal mutations; mutational robustness; protist.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Eukaryota
  • Evolution, Molecular
  • Genetic Fitness*
  • Genome
  • Germ-Line Mutation / genetics
  • Homozygote
  • Mutation
  • Mutation Rate
  • Selection, Genetic / genetics*
  • Sequence Deletion / genetics*
  • Tetrahymena thermophila / genetics*