Analysis of multiple ethyl methanesulfonate-mutagenized Caenorhabditis elegans strains by whole-genome sequencing.
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.
Sarin
Sumeet
S
Department of Biochemistry and Molecular Biophysics, Howard Hughes Medical Institute, Columbia University Medical Center,New York, New York 10032, USA.
Bertrand
Vincent
V
Bigelow
Henry
H
Boyanov
Alexander
A
Doitsidou
Maria
M
Poole
Richard J
RJ
Narula
Surinder
S
Hobert
Oliver
O
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
D018389:Codon, Nonsense; D005020:Ethyl Methanesulfonate