Rate and Molecular Spectrum of Spontaneous Mutations in Arabidopsis thaliana

• Published in: Science (American Association for the Advancement of Science) Vol. 327; no. 5961; pp. 92 - 94
• Main Authors: Ossowski, Stephan, Schneeberger, Korbinian, Lucas-Lledó, José Ignacio, Warthmann, Norman, Clark, Richard M, Shaw, Ruth G, Weigel, Detlef, Lynch, Michael
• Format: Journal Article
• Language: English
• Published: Washington, DC American Association for the Advancement of Science 2010; The American Association for the Advancement of Science
• Subjects: Agronomy. Soil science and plant productions; Arabidopsis - genetics; Arabidopsis - radiation effects; Arabidopsis thaliana; Biological and medical sciences; Cytosine - metabolism; Deamination; DNA Methylation; DNA, Intergenic; DNA, Plant - genetics; Flowers & plants; Fundamental and applied biological sciences. Psychology; Genetic mutation; Genetics and breeding of economic plants; genome; Genome, Plant; Genomes; Genomics; INDEL Mutation; Intergenic DNA; Introns; Methylation; Molecular biology; Molecular spectra; Mutagenesis; Mutation; Natural selection; Plant biology; Plant breeding: fundamental aspects and methodology; Polymorphism; Sequence Analysis, DNA; Sequence Deletion; Sequencing; Ultraviolet radiation; Ultraviolet Rays; Untranslated regions; Single seed descent; Divergence; Spontaneous; Arabidopsis thaliana; Ultraviolet radiation; Mutagenesis; Substitution; Cruciferae; Dicotyledones; Angiospermae; Deletion; Chromosome DNA; Spermatophyta; Cytosine; Mutation; Experimental plant; Genome; Methylation; Polymorphism
• ISSN: 0036-8075; 1095-9203; 1095-9203
• DOI: 10.1126/science.1180677

To take complete advantage of information on within-species polymorphism and divergence from close relatives, one needs to know the rate and the molecular spectrum of spontaneous mutations. To this end, we have searched for de novo spontaneous mutations in the complete nuclear genomes of five Arabidopsis thaliana mutation accumulation lines that had been maintained by single-seed descent for 30 generations. We identified and validated 99 base substitutions and 17 small and large insertions and deletions. Our results imply a spontaneous mutation rate of 7 x 10⁻⁹ base substitutions per site per generation, the majority of which are G:C[rightward arrow]A:T transitions. We explain this very biased spectrum of base substitution mutations as a result of two main processes: deamination of methylated cytosines and ultraviolet light-induced mutagenesis.