The DOI matches its Crossref record; 61 of the 62 references it cites were found in a registry or an index.
A genome-wide view of the spectrum of spontaneous mutations in yeast.
Open accessAbstract
The mutation process ultimately defines the genetic features of all populations and, hence, has a bearing on a wide range of issues involving evolutionary genetics, inheritance, and genetic disorders, including the predisposition to cancer. Nevertheless, formidable technical barriers have constrained our understanding of the rate at which mutations arise and the molecular spectrum of their effects. Here, we report on the use of complete-genome sequencing in the characterization of spontaneously arising mutations in the yeast Saccharomyces cerevisiae. Our results confirm some findings previously obtained by indirect methods but also yield numerous unexpected findings, in particular a very high rate of point mutation and skewed distribution of base-substitution types in the mitochondrion, a very high rate of segmental duplication and deletion in the nuclear genome, and substantial deviations in the mutational profile among various model organisms.
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“If we were to assume a per base mutation rate similar to that of haploid yeasts (estimated at 0.33 10-9 per base per generation) (Lynch et al., 2008), each generation one would expect 0.0041 mutations in the genome (0.33 10-9 × 12,3 106 bases in the genome = 4.1 10-3).”
From Genome Comparisons of Candida glabrata Serial Clinical Isolates Reveal Patterns of Genetic Variation in Infecting Clonal Populations (2019) · cites this paper as Lynch et al., 2008
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Cites
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Mutation Pressure and the Evolution of Organelle Genomic Architecture
Lynch, M., Koskella, B. L., & Schaack, S. (2006) · Science · doi:10.1126/science.1118884 · Cited by 597
Characteristic genome rearrangements in experimental evolution of Saccharomyces cerevisiae
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Widespread aneuploidy revealed by DNA microarray expression profiling
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Flagged first, then by citations
1 of the 62 references couldn’t be matched to a known paper.
Research works printed but not linked: 2
- M Lynch The Origins of Genomic Architecture (Sinauer, Sunderland, MA, 2007).
- 10.1128/mcb.12.6.2749-2757.1992 · DOI
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Selection bias in microbial mutation accumulation studies and the impact of colony growth
Grosse-Sommer, J. M., & Hadfield, J. D. (2026) · Genetics · doi:10.1093/genetics/iyag263
Elevated DNA insertion rate in Cyanophora paradoxa reveals unique repair signaturePreprint
Krasovec, M., Lipzen, A., Grimsley, N. H., Mirambeau, G., Barry, K., Grigoriev, I. V., & Piganeau, G. (2026) · Genome Research · doi:10.1101/gr.281517.125
McQueen, E. W., Yang, B., & Wittkopp, P. J. (2026) · Molecular Biology and Evolution · doi:10.1093/molbev/msag172 · Cited by 4
Evolutionary insights into Cordyceps militaris from mitogenome dynamics and genome-wide variation
Ren, L., Zhang, S., & Zhang, Y. (2026) · IMA Fungus · doi:10.3897/imafungus.17.195879
Zheng, M., Pouyet, F., O’Donnell, S., Agier, N., Mangione, R. M., Ollivier, L., Ouaddi, C., Aiello, U., Goncalves, C., Lautier, O., et al. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.09.25.754379
The dynamics of gene copy-number mutations: transient changes with long-lasting consequences
Tomanek, I., & Guet, C. C. (2026) · Genetics · doi:10.1093/genetics/iyag262
Genome Instability and DNA Repair
Larriba, G., & Calderone, R. (2014) · ASM Press eBooks · doi:10.1128/9781555817176.ch5
Metadata
- Authors
- Lynch, M., Sung, W., Morris, K., Coffey, N., Landry, C. R., Dopman, E. B., Dickinson, W. J., Okamoto, K., Kulkarni, S., Hartl, D. L., & Thomas, W. K.
- Affiliations
- Indiana University Bloomington (US)
- University of New Hampshire (US)
- Harvard University (US)
- University of Utah (US)
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 2008-07-08
- Volume
- 105
- Issue
- 27
- Pages
- 9272-9277
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- PMC
- PMC2453693
- OpenAlex
- W2145406188
- Cited by
- 708
- References
- 62
- Citations by year
- 2026: 16 · 2025: 23 · 2024: 24 · 2023: 34 · 2022: 29 · 2021: 56 · 2020: 35 · 2019: 39 · 2018: 42 · 2017: 40 · 2016: 44 · 2015: 46 · 2014: 47 · 2013: 51 · 2012: 42
- FWCI
- 18.53
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Proceedings of the National Academy of Sciences (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health
- Natural Sciences and Engineering Research Council of Canada
- National Institute of General Medical Sciences (GM 36827, R01GM068465, R01GM036827, GM068465)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Fungal and yeast genetics research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Evolution and Genetic Dynamics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
- Keywords
- spontaneous mutation, mutation spectrum, Saccharomyces cerevisiae, point mutations, mitochondrial mutations, segmental duplication, deletion, mutation rate
- MeSH terms
- Base Sequence, Cell Division, DNA, Mitochondrial, Mutation, Nucleotides, Ploidies, Saccharomyces cerevisiae, Chromosomes, Fungal, Genome, Fungal, Microsatellite Repeats
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