title: Analysis of multiple ethyl methanesulfonate-mutagenized Caenorhabditis elegans strains by whole-genome sequencing.
abstract: 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.
authors.affiliation: Department of Biochemistry and Molecular Biophysics, Howard Hughes Medical Institute, Columbia University Medical Center,New York, New York 10032, USA.
authors.forename: Sumeet
authors.initials: S
authors.lastname: Sarin
authors.forename: Vincent
authors.initials: V
authors.lastname: Bertrand
authors.forename: Henry
authors.initials: H
authors.lastname: Bigelow
authors.forename: Alexander
authors.initials: A
authors.lastname: Boyanov
authors.forename: Maria
authors.initials: M
authors.lastname: Doitsidou
authors.forename: Richard J
authors.initials: RJ
authors.lastname: Poole
authors.forename: Surinder
authors.initials: S
authors.lastname: Narula
authors.forename: Oliver
authors.initials: O
authors.lastname: Hobert
mesh_terms: D000818:Animals; D001483:Base Sequence; D017173:Caenorhabditis elegans / Q000235:genetics*; D002874:Chromosome Mapping; D018389:Codon, Nonsense; D005020:Ethyl Methanesulfonate / Q000378:metabolism; D005796:Genes; D016678:Genome / Q000235:genetics*; D005838:Genotype; D009154:Mutation; D010641:Phenotype
chemical_list: D018389:Codon, Nonsense; D005020:Ethyl Methanesulfonate