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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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
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Abstract	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.
AbstractList	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.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. 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.
Author	Lucas-Lledó, José Ignacio Schneeberger, Korbinian Weigel, Detlef Lynch, Michael Ossowski, Stephan Shaw, Ruth G Warthmann, Norman Clark, Richard M
Author_xml	– sequence: 1 givenname: Stephan surname: Ossowski fullname: Ossowski, Stephan organization: Department of Molecular Biology, Max Planck Institute for Developmental Biology, 72076 Tübingen, Germany – sequence: 2 givenname: Korbinian surname: Schneeberger fullname: Schneeberger, Korbinian – sequence: 3 givenname: José Ignacio surname: Lucas-Lledó fullname: Lucas-Lledó, José Ignacio – sequence: 4 givenname: Norman surname: Warthmann fullname: Warthmann, Norman – sequence: 5 givenname: Richard M surname: Clark fullname: Clark, Richard M – sequence: 6 givenname: Ruth G surname: Shaw fullname: Shaw, Ruth G – sequence: 7 givenname: Detlef surname: Weigel fullname: Weigel, Detlef – sequence: 8 givenname: Michael surname: Lynch fullname: Lynch, Michael
BackLink	https://www.ncbi.nlm.nih.gov/pubmed/20044577$$D View this record in MEDLINE/PubMed
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Snippet	To take complete advantage of information on within-species polymorphism and divergence from close relatives, one needs to know the rate and the molecular...
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SubjectTerms	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
Title	The rate and molecular spectrum of spontaneous mutations in Arabidopsis thaliana
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