ArticleProceedings of the National Academy of Sciences of the United States of America2009
A genome-wide view of Caenorhabditis elegans base-substitution mutation processes.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 164 papers.
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Who cites it
164 citing papers in PubMed, 294 citations in OpenAlex.
- Evolution of the rate, molecular spectrum, and fitness effects of mutation under minimal selection in Caenorhabditis elegans.Genetics · 2026Article
- Cathepsin B protease mediates high population density-induced mutagenesis to drive genome evolution and competitive growth.Nature communications · 2026Article
- Genomic sequence and structural variations accumulating between laboratory lineages of wild typebioRxiv : the preprint server for biology · 2026Article
- Evolution of the rate, molecular spectrum, and fitness effects of mutation under minimal selection inbioRxiv : the preprint server for biology · 2026Article
- The mutation landscape of Daphnia obtusa reveals evolutionary forces shaping genome stability.Molecular biology and evolution · 2026Article
- Aging, dauer, and stature phenotypes are conferred by structure-directed missense mutations in the endogenous AGE-1/phosphatidylinositol 3-kinase catalytic subunit.bioRxiv : the preprint server for biology · 2026Article
- Near Neutral Selectionist Theories (NNST) for SARS-CoV-2 suggested by the substitution-mutation ratio (c/µ) analysis.PloS one · 2026Article
- Cysteine protease cathepsin B promotes high population density-induced mutagenesis, driving genome evolution and competitive growth in response to the crowding stress.bioRxiv : the preprint server for biology · 2025Article
- A record-setting mitogenome in the holoparasitic plant Balanophora yakushimensis accompanied by exceptional loss of organellar DNA repair and recombination genes.BMC biology · 2025Article
- Adaptation of the Cyst Nematode Globodera pallida to the Colinear Potato Resistant QTLs GpaVMolecular ecology · 2025Article
- The mutation landscape ofbioRxiv : the preprint server for biology · 2025Article
- Evolution of developmental bias explains divergent patterns of phenotypic evolution in two nematode clades.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Mutations of short tandem repeats explain abundant trait heritability in Arabidopsis.Genome biology · 2025Article
- Pervasive Conservation of Intron Number and Other Genetic Elements Revealed by a Chromosome-level Genome Assembly of the Hyper-polymorphic Nematode Caenorhabditis brenneri.Genome biology and evolution · 2025Article
- Spontaneous and environment induced genomic alterations in yeast model.Cell insight · 2025Review
- Pervasive conservation of intron number and other genetic elements revealed by a chromosome-level genomic assembly of the hyper-polymorphic nematodebioRxiv : the preprint server for biology · 2024Article
- Parthenogenomics: Insights on mutation rates and nucleotide diversity in parthenogeneticEcology and evolution · 2024Article
- Germline mutation rate is elevated in young and old parents inEvolution letters · 2023Article
- Ancient diversity in host-parasite interaction genes in a model parasitic nematode.Nature communications · 2023Article
- Comprehensive detection of structural variation and transposable element differences between wild type laboratory lineages ofbioRxiv : the preprint server for biology · 2023Article
104 more citing papers are in PubMed but not listed here.
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Authors and funding
11 authors at 5 institutions in 1 country.
Funding
Abstract
Knowledge of mutation processes is central to understanding virtually all evolutionary phenomena and the underlying nature of genetic disorders and cancers. However, the limitations of standard molecular mutation detection methods have historically precluded a genome-wide understanding of mutation rates and spectra in the nuclear genomes of multicellular organisms. We applied two high-throughput DNA sequencing technologies to identify and characterize hundreds of spontaneously arising base-substitution mutations in 10 Caenorhabditis elegans mutation-accumulation (MA)-line nuclear genomes. C. elegans mutation rate estimates were similar to previous calculations based on smaller numbers of mutations. Mutations were distributed uniformly within and among chromosomes and were not associated with recombination rate variation in the MA lines, suggesting that intragenomic variation in genetic hitchhiking and/or background selection are primarily responsible for the chromosomal distribution patterns of polymorphic nucleotides in C. elegans natural populations. A strong mutational bias from G/C to A/T nucleotides was detected in the MA lines, implicating oxidative DNA damage as a major endogenous mutagenic force in C. elegans. The observed mutational bias also suggests that the C. elegans nuclear genome cannot be at equilibrium because of mutation alone. Transversions dominate the spectrum of spontaneous mutations observed here, whereas transitions dominate patterns of allegedly neutral polymorphism in natural populations of C. elegans and many other animal species; this observation challenges the assumption that natural patterns of molecular variation in noncoding regions of the nuclear genome accurately reflect underlying mutation processes.
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