Evidence map›Paper›PMID 25646453›Full record

ArticleProceedings of the National Academy of Sciences of the United States of America2015

Crossovers are associated with mutation and biased gene conversion at recombination hotspots.

Barbara Arbeithuber, Andrea J Betancourt, Thomas Ebner, Irene Tiemann-Boege

Open access · bronzeAbstract read
In one paragraph

Article in Proceedings of the National Academy of Sciences of the United States of America, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 133 papers.

0numbers the graph read from it
0cells of the map it votes in
133citing papers in PubMed
21.5field-weighted citation impact, top 1% of its field
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

133 citing papers in PubMed, 237 citations in OpenAlex.

  1. Article
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  3. Identification of a master regulator Msd1 that governs meiotic entry in a global basidiomycete pathogen.Proceedings of the National Academy of Sciences of the United States of America · 2026
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  6. Population size interacts with reproductive longevity to shape the germline mutation rate.Proceedings of the National Academy of Sciences of the United States of America · 2025
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  14. High prevalence of PRDM9-independent recombination hotspots in placental mammals.Proceedings of the National Academy of Sciences of the United States of America · 2024
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73 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

4 authors at 2 institutions in 1 country.

Barbara ArbeithuberInstitute of Biophysics, Johannes Kepler University, 4020 Linz, Austria;
Andrea J BetancourtInstitut für Populationsgenetik, Vetmeduni Vienna, 1210 Vienna, Austria;
Thomas EbnerDepartment of Gynecological Endocrinology and Kinderwunsch Zentrum, Landes- Frauen- und Kinderklinik, 4020 Linz, Austria; and Institute of Human Genetics, Medical University of Graz, 8010 Graz, Austria.
Irene Tiemann-BoegeInstitute of Biophysics, Johannes Kepler University, 4020 Linz, Austria; irene.tiemann@jku.at.ORCID http://orcid.org/0000-0002-3621-7020
Johannes Kepler University of Linz · ATMedical University of Graz · AT

Funding

Austrian Science Fund FWF P 23811
6 · The paper itself

Abstract

Meiosis is a potentially important source of germline mutations, as sites of meiotic recombination experience recurrent double-strand breaks (DSBs). However, evidence for a local mutagenic effect of recombination from population sequence data has been equivocal, likely because mutation is only one of several forces shaping sequence variation. By sequencing large numbers of single crossover molecules obtained from human sperm for two recombination hotspots, we find direct evidence that recombination is mutagenic: Crossovers carry more de novo mutations than nonrecombinant DNA molecules analyzed for the same donors and hotspots. The observed mutations were primarily CG to TA transitions, with a higher frequency of transitions at CpG than non-CpGs sites. This enrichment of mutations at CpG sites at hotspots could predominate in methylated regions involving frequent single-stranded DNA processing as part of DSB repair. In addition, our data set provides evidence that GC alleles are preferentially transmitted during crossing over, opposing mutation, and shows that GC-biased gene conversion (gBGC) predominates over mutation in the sequence evolution of hotspots. These findings are consistent with the idea that gBGC could be an adaptation to counteract the mutational load of recombination.

Indexed as

Crossing Over, GeneticGene ConversionMutationRecombination, GeneticAllelesFemaleHumansMalebiased gene conversioncrossovermeiotic recombinationmutationsequence evolution

Identifiers

PMID25646453
PMCPMC4343121
OpenAlexW2135267901

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.