Evidence map›Paper›PMID 29109227›Full record

ReviewPhilosophical transactions of the Royal Society of London. Series B, Biological sciences2017

The impact of recombination on human mutation load and disease.

Isabel Alves, Armande Ang Houle, Julie G Hussin, Philip Awadalla

Open access · bronzeAbstract readReview
In one paragraph

Review in Philosophical transactions of the Royal Society of London. Series B, Biological sciences, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.

0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed
1.8field-weighted citation impact, top 14% 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

19 citing papers in PubMed, 40 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Review
  8. Contribution ofFrontiers in cell and developmental biology · 2022
    Article
  9. Article
  10. Review
  11. A Fine-Scale Genetic Map for Vervet Monkeys.Molecular biology and evolution · 2020
    Article
  12. Levels of Heterochiasmy DuringG3 (Bethesda, Md.) · 2020
    Article
  13. Article
  14. Multifaceted Role of PRDM Proteins in Human Cancer.International journal of molecular sciences · 2020
    Review
  15. Review
  16. AberrantGenome research · 2018
    Article
  17. Variation in recombination frequency and distribution across eukaryotes: patterns and processes.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2017
    Review
  18. Recombination: the good, the bad and the variable.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2017
    Article
  19. Low recombination rates in sexual species and sex-asex transitions.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2017
    Article
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 2 countries.

Isabel AlvesOntario Institute of Cancer Research, 661 University Avenue, Suite 510, Toronto, Ontario, Canada M5G 0A3 isabel.alves@oicr.on.ca.
Armande Ang HouleOntario Institute of Cancer Research, 661 University Avenue, Suite 510, Toronto, Ontario, Canada M5G 0A3.
Julie G HussinMontreal Heart Institute, Department of Medicine, University of Montreal, 5000 Rue Bélanger, Montréal, Quebec, Canada H1T 1C8.
Philip AwadallaOntario Institute of Cancer Research, 661 University Avenue, Suite 510, Toronto, Ontario, Canada M5G 0A3.ORCID http://orcid.org/0000-0001-9946-6393
Ontario Institute for Cancer Research · CACentre for Human Genetics · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Recombination promotes genomic integrity among cells and tissues through double-strand break repair, and is critical for gamete formation and fertility through a strict regulation of the molecular mechanisms associated with proper chromosomal disjunction. In humans, congenital defects and recurrent structural abnormalities can be attributed to aberrant meiotic recombination. Moreover, mutations affecting genes involved in recombination pathways are directly linked to pathologies including infertility and cancer. Recombination is among the most prominent mechanism shaping genome variation, and is associated with not only the structuring of genomic variability, but is also tightly linked with the purging of deleterious mutations from populations. Together, these observations highlight the multiple roles of recombination in human genetics: its ability to act as a major force of evolution, its molecular potential to maintain genome repair and integrity in cell division and its mutagenic cost impacting disease evolution.This article is part of the themed issue 'Evolutionary causes and consequences of recombination rate variation in sexual organisms'.

Indexed as

Evolution, MolecularMutationRecombination, GeneticCommunicable DiseasesGenetic LinkageHistone-Lysine N-MethyltransferaseHumansHistone-Lysine N-MethyltransferasePRDM9 protein, humancancerdiseasegene conversionmutation loadPRDM9recombination

Identifiers

PMID29109227
PMCPMC5698626
OpenAlexW2767980883

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.