Another approach to the study of mutation is to observe naturally-occurring changes in DNA, also known as spontaneous mutations. These alterations arise during DNA replication. A method for generating and observing these mutations is the creation and propagation of mutation accumulation lines. In Arabidopsis, mutation accumulation lines can be started from a single founder individual produced from several generations of selfing that is likely nearly homozygous at all loci in its genome. Offspring from this founder individual can then be propagated as separate lineages across many generations, with a single seed randomly chosen from each lineage serving as the parent for that lineage each generation. With this method, the separate lineages gradually accumulate unique sets of mutations through errors in DNA replication.
After the mutation accumulations lines have been developed, they can be studied to understand the effects of mutation on phenotype and they can be sequenced to determine patterns in the processes that contribute to spontaneous mutation.
Publications
Monroe, J.G., Srikant, T., Carbonell-Bejerano, P., Becker, C., Lensink, M., Exposito-Alonso, M., Klein, M., Hildebrandt, J., Neumann, M., Kliebenstein, D. and Weng, M.L., 2022. Mutation bias reflects natural selection in Arabidopsis thaliana. Nature, 602(7895): 101-105.
Rutter MT, Shaw FH, Fenster CB. 2009. Spontaneous mutation parameters for Arabidopsis thaliana measured in the wild. Evolution. 64(6):1825–1835. doi:https://doi.org/10.1111/j.1558-5646.2009.00928.x.
Rutter MT, Roles A, Conner JK, Shaw RG, Shaw FH, Schneeberger K, Ossowski S, Weigel D, Fenster CB. 2012. Fitness of Arabidopsis thaliana mutation accumulation lines whose spontaneous mutations are known. Evolution. 66(7):2335–2339. doi:https://doi.org/10.1111/j.1558-5646.2012.01583.x.
Rutter MT, Roles AJ, Fenster CB. 2018. Quantifying natural seasonal variation in mutation parameters with mutation accumulation lines. Ecology and Evolution. 8(11):5575–5585. doi:https://doi.org/10.1002/ece3.4085.
Weng, Mao-Lun, Claude Becker, Julia Hildebrandt, Manuela Neumann, Matthew T. Rutter, Ruth G. Shaw, Detlef Weigel, and Charles B. Fenster. “Fine-grained analysis of spontaneous mutation spectrum and frequency in Arabidopsis thaliana.” Genetics 211, no. 2 (2019): 703-714.
Weng, Mao-Lun, Jon Ågren, Eric Imbert, Henning Nottebrock, Matthew T. Rutter, and Charles B. Fenster. “Fitness effects of mutation in natural populations of Arabidopsis thaliana reveal a complex influence of local adaptation.” Evolution 75, no. 2 (2021): 330-348.