RT Journal Article SR Electronic T1 The rate and effect of de novo mutations in natural populations of Arabidopsis thaliana JF bioRxiv FD Cold Spring Harbor Laboratory SP 050203 DO 10.1101/050203 A1 Moises Exposito-Alonso A1 Claude Becker A1 Verena J. Schuenemann A1 Ella Reitter A1 Claudia Setzer A1 Radka Slovak A1 Benjamin Brachi A1 Jöerg Hagmann A1 Dominik G. Grimm A1 Chen Jiahui A1 Wolfgang Busch A1 Joy Bergelson A1 Rob W. Ness A1 Johannes Krause A1 Hernán A. Burbano A1 Detlef Weigel YR 2016 UL http://biorxiv.org/content/early/2016/04/25/050203.abstract AB Like many other species, the plant Arabidopsis thaliana has been introduced in recent history from its native Eurasian range to North America, with many individuals belonging to a single lineage. We have sequenced 100 genomes of present-day and herbarium specimens from this lineage, covering the time span from 1863 to 2006. Within-lineage recombination was nearly absent, greatly simplifying the genetic analysis, allowing direct estimation of the mutation rate and an introduction date in the early-17th century. The comparison of substitution rates at different sites throughout the genome reveals that genetic drift predominates, but that purifying selection in this rapidly expanding population is nevertheless evident even over short historical time scales. Furthermore, an association analysis identifies new mutations affecting root development, a trait important for adaptation in the wild. Our work illustrates how mutation and selection rates can be observed directly by combining modern genetic methods and historic samples.HIGHLIGHTSA historically young colonizing lineage of Arabidopsis thaliana allows observation of contemporary evolutionary forces.Genomes from specimens collected over 150 years support direct calculation of mutation rates occurring in nature.Drift predominates, but purifying selection is evident genome-wide over historical time scales.New mutations with phenotypic effects can be identified and traced back in time and space.