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The rate and molecular spectrum of spontaneous mutations in arabidopsis thaliana

Ossowski, Stephan; Schneeberger, Korbinian; Lucas-Lledó, José Ignacio; Warthmann, Norman; Clark, Richard M; Shaw, Ruth G; Weigel, Detlef; Lynch, Michael

Description

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...[Show more]

dc.contributor.authorOssowski, Stephan
dc.contributor.authorSchneeberger, Korbinian
dc.contributor.authorLucas-Lledó, José Ignacio
dc.contributor.authorWarthmann, Norman
dc.contributor.authorClark, Richard M
dc.contributor.authorShaw, Ruth G
dc.contributor.authorWeigel, Detlef
dc.contributor.authorLynch, Michael
dc.date.accessioned2015-12-10T23:16:47Z
dc.identifier.issn0036-8075
dc.identifier.urihttp://hdl.handle.net/1885/65215
dc.description.abstractTo 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.
dc.publisherAmerican Association for the Advancement of Science
dc.sourceScience
dc.subjectKeywords: cytosine; dicotyledon; divergence; genome; molecular analysis; mutation; polymorphism; ultraviolet radiation; Arabidopsis; article; controlled study; deamination; genome; indel mutation; methylation; mutagenesis; nonhuman; nucleic acid base substitution;
dc.titleThe rate and molecular spectrum of spontaneous mutations in arabidopsis thaliana
dc.typeJournal article
local.description.notesImported from ARIES
local.identifier.citationvolume327
dc.date.issued2010
local.identifier.absfor060408 - Genomics
local.identifier.absfor060409 - Molecular Evolution
local.identifier.absfor060102 - Bioinformatics
local.identifier.ariespublicationU3488905xPUB1071
local.type.statusPublished Version
local.contributor.affiliationOssowski, Stephan, Max Planck Institute for Developmental Biology
local.contributor.affiliationSchneeberger, Korbinian, Max Planck Institute for Developmental Biology
local.contributor.affiliationLucas-Lledó, José Ignacio, Indiana University
local.contributor.affiliationWarthmann, Norman, College of Medicine, Biology and Environment, ANU
local.contributor.affiliationClark, Richard M , University of Utah
local.contributor.affiliationShaw, Ruth G, University of Minnesota
local.contributor.affiliationWeigel, Detlef, Max Planck Institute for Developmental Biology,
local.contributor.affiliationLynch, Michael, Indiana University
local.description.embargo2037-12-31
local.bibliographicCitation.issue5961
local.bibliographicCitation.startpage92
local.bibliographicCitation.lastpage94
local.identifier.doi10.1126/science.1180677
local.identifier.absseo970106 - Expanding Knowledge in the Biological Sciences
dc.date.updated2016-02-24T09:56:41Z
local.identifier.scopusID2-s2.0-74849090833
local.identifier.thomsonID000273395400038
CollectionsANU Research Publications

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