The rate and molecular spectrum of spontaneous mutations in Arabidopsis thaliana

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 Arabid...

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Bibliographic Details
Published in:Science (American Association for the Advancement of Science) Vol. 327; no. 5961; p. 92
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: United States 01.01.2010
Subjects:
Arabidopsis - genetics
Arabidopsis - radiation effects
Cytosine - metabolism
Deamination
DNA Methylation
DNA, Intergenic
DNA, Plant - genetics
Genome, Plant
INDEL Mutation
Mutation
Sequence Analysis, DNA
Sequence Deletion
Ultraviolet Rays
ISSN:1095-9203, 1095-9203
Online Access:Get more information
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Summary: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-->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.
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ISSN:1095-9203
1095-9203
DOI:10.1126/science.1180677