TY - JOUR
T1 - The rate and molecular spectrum of spontaneous mutations in arabidopsis thaliana
AU - Ossowski, Stephan
AU - Schneeberger, Korbinian
AU - Lucas-Lledó, José Ignacio
AU - Warthmann, Norman
AU - Clark, Richard M.
AU - Shaw, Ruth G.
AU - Weigel, Detlef
AU - Lynch, Michael
PY - 2010/1/1
Y1 - 2010/1/1
N2 - 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 × 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.
AB - 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 × 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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U2 - 10.1126/science.1180677
DO - 10.1126/science.1180677
M3 - Article
C2 - 20044577
AN - SCOPUS:74849090833
SN - 0036-8075
VL - 327
SP - 92
EP - 94
JO - Science
JF - Science
IS - 5961
ER -