Analysis of multiple ethyl methanesulfonate-mutagenized Caenorhabditis elegans strains by whole-genome sequencing

Sumeet Sarin, Vincent Bertrand, Henry Bigelow, Alexander Boyanov, Maria Doitsidou, Richard J Poole, Surinder Narula, Oliver Hobert

Research output: Contribution to journalArticlepeer-review


Whole-genome sequencing (WGS) of organisms displaying a specific mutant phenotype is a powerful approach to identify the genetic determinants of a plethora of biological processes. We have previously validated the feasibility of this approach by identifying a point-mutated locus responsible for a specific phenotype, observed in an ethyl methanesulfonate (EMS)-mutagenized Caenorhabditis elegans strain. Here we describe the genome-wide mutational profile of 17 EMS-mutagenized genomes as assessed with a bioinformatic pipeline, called MAQGene. Surprisingly, we find that while outcrossing mutagenized strains does reduce the total number of mutations, a striking mutational load is still observed even in outcrossed strains. Such genetic complexity has to be taken into account when establishing a causative relationship between genotype and phenotype. Even though unintentional, the 17 sequenced strains described here provide a resource of allelic variants in almost 1000 genes, including 62 premature stop codons, which represent candidate knockout alleles that will be of further use for the C. elegans community to study gene function.

Original languageEnglish
Pages (from-to)417-30
Number of pages14
Issue number2
Publication statusPublished - Jun 2010


  • Animals
  • Base Sequence
  • Caenorhabditis elegans
  • Chromosome Mapping
  • Codon, Nonsense
  • Ethyl Methanesulfonate
  • Genes
  • Genome
  • Genotype
  • Mutation
  • Phenotype


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