Evidence map›Paper›PMID 26260971›Full record

ArticleGenome research2015

Extensive de novo mutation rate variation between individuals and across the genome of Chlamydomonas reinhardtii.

Rob W Ness, Andrew D Morgan, Radhakrishnan B Vasanthakrishnan, Nick Colegrave, Peter D Keightley

Open access · bronzeAbstract read
In one paragraph

Article in Genome research, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 73 papers.

0numbers the graph read from it
0cells of the map it votes in
73citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

73 citing papers in PubMed, 131 citations in OpenAlex.

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13 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors at 1 institution in 2 countries.

Rob W NessInstitute of Evolutionary Biology, University of Edinburgh, Ashworth Labs, King's Buildings, Edinburgh EH9 3JT, Scotland.
Andrew D MorganInstitute of Evolutionary Biology, University of Edinburgh, Ashworth Labs, King's Buildings, Edinburgh EH9 3JT, Scotland.
Radhakrishnan B VasanthakrishnanInstitute of Evolutionary Biology, University of Edinburgh, Ashworth Labs, King's Buildings, Edinburgh EH9 3JT, Scotland.
Nick ColegraveInstitute of Evolutionary Biology, University of Edinburgh, Ashworth Labs, King's Buildings, Edinburgh EH9 3JT, Scotland.
Peter D KeightleyInstitute of Evolutionary Biology, University of Edinburgh, Ashworth Labs, King's Buildings, Edinburgh EH9 3JT, Scotland.
Centre for Immunity, Infection and Evolution · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Describing the process of spontaneous mutation is fundamental for understanding the genetic basis of disease, the threat posed by declining population size in conservation biology, and much of evolutionary biology. Directly studying spontaneous mutation has been difficult, however, because new mutations are rare. Mutation accumulation (MA) experiments overcome this by allowing mutations to build up over many generations in the near absence of natural selection. Here, we sequenced the genomes of 85 MA lines derived from six genetically diverse strains of the green alga Chlamydomonas reinhardtii. We identified 6843 new mutations, more than any other study of spontaneous mutation. We observed sevenfold variation in the mutation rate among strains and that mutator genotypes arose, increasing the mutation rate approximately eightfold in some replicates. We also found evidence for fine-scale heterogeneity in the mutation rate, with certain sequence motifs mutating at much higher rates, and clusters of multiple mutations occurring at closely linked sites. There was little evidence, however, for mutation rate heterogeneity between chromosomes or over large genomic regions of 200 kbp. We generated a predictive model of the mutability of sites based on their genomic properties, including local GC content, gene expression level, and local sequence context. Our model accurately predicted the average mutation rate and natural levels of genetic diversity of sites across the genome. Notably, trinucleotides vary 17-fold in rate between the most and least mutable sites. Our results uncover a rich heterogeneity in the process of spontaneous mutation both among individuals and across the genome.

Indexed as

Genetic VariationGenome, PlantMutation RateChlamydomonas reinhardtiiDNA, PlantEvolution, MolecularGenotypeSequence AlignmentSequence Analysis, DNADNA, Plant

Identifiers

PMID26260971
PMCPMC4617969
OpenAlexW2170167044

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.