Deleterious Variants in Asian Rice and the Potential Cost of Domestication

Mol Biol Evol. 2017 Apr 1;34(4):908-924. doi: 10.1093/molbev/msw296.


Many SNPs are predicted to encode deleterious amino acid variants. These slightly deleterious mutations can provide unique insights into population history, the dynamics of selection, and the genetic bases of phenotypes. This is especially true for domesticated species, where a history of bottlenecks and selection may affect the frequency of deleterious variants and signal a "cost of domestication". Here, we investigated the numbers and frequencies of deleterious variants in Asian rice (Oryza sativa), focusing on two varieties (japonica and indica) and their wild relative (O. rufipogon). We investigated three signals of a potential cost of domestication in Asian rice relative to O. rufipogon: an increase in the frequency of deleterious SNPs (dSNPs), an enrichment of dSNPs compared with synonymous SNPs (sSNPs), and an increased number of deleterious variants. We found evidence for all three signals, and domesticated individuals contained ∼3-4% more deleterious alleles than wild individuals. Deleterious variants were enriched within low recombination regions of the genome and experienced frequency increases similar to sSNPs within regions of putative selective sweeps. A characteristic feature of rice domestication was a shift in mating system from outcrossing to predominantly selfing. Forward simulations suggest that this shift in mating system may have been the dominant factor in shaping both deleterious and neutral diversity in rice.

Keywords: SNPs; bottleneck; domestication; selective sweep.

Publication types

  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Biological Evolution
  • Crops, Agricultural / genetics*
  • Domestication
  • Evolution, Molecular
  • Genetic Variation
  • Genetics, Population / methods
  • Genome, Plant
  • Mutation Rate
  • Oryza / genetics*
  • Phylogeny
  • Plant Breeding
  • Polymorphism, Single Nucleotide / genetics