Cited by 708Fungal and yeast genetics researchEvolution and Genetic DynamicsGenomics and Phylogenetic Studies

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A genome-wide view of the spectrum of spontaneous mutations in yeast.

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Lynch, Michael, Sung, Way, Morris, Krystalynne, Coffey, Nicole, Landry, Christian R., Dopman, Erik B., Dickinson, W. Joseph, Okamoto, Kazufusa, Kulkarni, Shilpa, Hartl, Daniel L., Thomas, W. Kelley·2008·Proceedings of the National Academy of Sciences

DOI 10.1073/pnas.0803466105PMC PMC2453693

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Abstract

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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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)
ORCID: Lynch, Michael
Sung, Way
Landry, Christian R.
Dopman, Erik B.
Kulkarni, Shilpa
Hartl, Daniel L.
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
DOI: 10.1073/pnas.0803466105
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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A genome-wide view of the spectrum of spontaneous mutations in yeast.

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