Evidence map›Paper›PMID 26518480›Full record

ArticleGenome research2016

High mutational rates of large-scale duplication and deletion in Daphnia pulex.

Nathan Keith, Abraham E Tucker, Craig E Jackson, Way Sung, José Ignacio Lucas Lledó, Daniel R Schrider, Sarah Schaack, Jeffry L Dudycha, Matthew Ackerman, Andrew J Younge and 2 more

Abstract read
In one paragraph

Article in Genome research, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 70 papers.

0numbers the graph read from it
0cells of the map it votes in
70citing 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

70 citing papers in PubMed.

  1. Article
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  7. The effect of spontaneous mutations onbioRxiv : the preprint server for biology · 2025
    Article
  8. The mutation landscape ofbioRxiv : the preprint server for biology · 2025
    Article
  9. Article
  10. Article
  11. The genome-wide signature of short-term temporal selection.Proceedings of the National Academy of Sciences of the United States of America · 2024
    Article
  12. Article
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  20. Article

10 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

12 authors.

Nathan KeithSchool of Public and Environmental Affairs, Indiana University, Bloomington, Indiana 47405, USA;
Abraham E TuckerBiology Department, Southern Arkansas University, Magnolia, Arkansas 71753, USA;
Craig E JacksonSchool of Public and Environmental Affairs, Indiana University, Bloomington, Indiana 47405, USA;
Way SungDepartment of Biology, Indiana University, Bloomington, Indiana 47405, USA;
José Ignacio Lucas LledóLeibniz Institute of Freshwater Ecology and Inland Fisheries, Stechlin, 16775 Germany;
Daniel R SchriderDepartment of Genetics, Rutgers University, Piscataway, New Jersey 08854, USA;
Sarah SchaackBiology Department, Reed College, Portland, Oregon 97202, USA;
Jeffry L DudychaDepartment of Biological Sciences, University of South Carolina, Columbia, South Carolina 29208, USA;
Matthew AckermanDepartment of Biology, Indiana University, Bloomington, Indiana 47405, USA;
Andrew J YoungeSchool of Informatics and Computing, Indiana University, Bloomington, Indiana 47405, USA;
Joseph R ShawSchool of Public and Environmental Affairs, Indiana University, Bloomington, Indiana 47405, USA; School of Biosciences, University of Birmingham, Birmingham B15 2TT, United Kingdom.
Michael LynchDepartment of Biology, Indiana University, Bloomington, Indiana 47405, USA;

Funding

The Rate and Molecular Spectrum of Spontaneous MutationsR01GM036827 · NIGMS · UNIVERSITY OF OREGON · PI LYNCH, MICHAEL R · 1988 to 2016
$5.7M
Population Genomics of Daphnia pulexR01GM101672 · NIGMS · TRUSTEES OF INDIANA UNIVERSITY · PI LYNCH, MICHAEL R · 2013 to 2016
$2.3M
Effects of environmental contamination on gene copy number variation: Molecular bR01ES019324 · NIEHS · TRUSTEES OF INDIANA UNIVERSITY · PI SHAW, JOSEPH R. · 2010 to 2014
$2.2M
NIEHS NIH HHS R01 ES019324NIEHS NIH HHS R01ES019324NIGMS NIH HHS R01 GM036827NIGMS NIH HHS R01GM036827NIGMS NIH HHS R01 GM101672NIGMS NIH HHS R01GM101672-01A1
6 · The paper itself

Abstract

Knowledge of the genome-wide rate and spectrum of mutations is necessary to understand the origin of disease and the genetic variation driving all evolutionary processes. Here, we provide a genome-wide analysis of the rate and spectrum of mutations obtained in two Daphnia pulex genotypes via separate mutation-accumulation (MA) experiments. Unlike most MA studies that utilize haploid, homozygous, or self-fertilizing lines, D. pulex can be propagated ameiotically while maintaining a naturally heterozygous, diploid genome, allowing the capture of the full spectrum of genomic changes that arise in a heterozygous state. While base-substitution mutation rates are similar to those in other multicellular eukaryotes (about 4 × 10(-9) per site per generation), we find that the rates of large-scale (>100 kb) de novo copy-number variants (CNVs) are significantly elevated relative to those seen in previous MA studies. The heterozygosity maintained in this experiment allowed for estimates of gene-conversion processes. While most of the conversion tract lengths we report are similar to those generated by meiotic processes, we also find larger tract lengths that are indicative of mitotic processes. Comparison of MA lines to natural isolates reveals that a majority of large-scale CNVs in natural populations are removed by purifying selection. The mutations observed here share similarities with disease-causing, complex, large-scale CNVs, thereby demonstrating that MA studies in D. pulex serve as a system for studying the processes leading to such alterations.

Indexed as

Gene DeletionGene DuplicationMutation RateAnimalsDaphniaDNA Copy Number VariationsEvolution, MolecularFemaleGenetic Association StudiesGenetic VariationHeterozygoteMaleSequence Analysis, DNA

Identifiers

PMID26518480
PMCPMC4691751

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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.