Evidence map›Paper›PMID 19917129›Full record

ArticleBMC genomics2009

Alu repeats increase local recombination rates.

David J Witherspoon, W Scott Watkins, Yuhua Zhang, Jinchuan Xing, Whitney L Tolpinrud, Dale J Hedges, Mark A Batzer, Lynn B Jorde

Open access · goldAbstract read
In one paragraph

Article in BMC genomics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.

0numbers the graph read from it
0cells of the map it votes in
34citing papers in PubMed
2.8field-weighted citation impact, top 9% 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

34 citing papers in PubMed, 55 citations in OpenAlex.

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  8. Article
  9. Coevolution between transposable elements and recombination.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2017
    Review
  10. Structural variants caused byProceedings of the National Academy of Sciences of the United States of America · 2017
    Article
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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

8 authors at 4 institutions in 1 country.

David J WitherspoonDept. of Human Genetics, University of Utah Health Sciences Center, Salt Lake City, Utah 84112, USA. david.witherspoon@utah.edu
W Scott Watkins
Yuhua Zhang
Jinchuan Xing
Whitney L Tolpinrud
Dale J Hedges
Mark A Batzer
Lynn B Jorde
University of Utah · USLouisiana State University · USUniversity of Miami · USYale University · US

Funding

POPULATION GENETICS OF MOBILE ELEMENTSR01GM059290 · NIGMS · UNIVERSITY OF UTAH · PI BATZER, MARK A, FESCHOTTE, CEDRIC · 1999 to 2018
$8.5M
NIGMS NIH HHS GM-59290NIGMS NIH HHS R01 GM059290
6 · The paper itself

Abstract

backgroundRecombination rates vary widely across the human genome, but little of that variation is correlated with known DNA sequence features. The genome contains more than one million Alu mobile element insertions, and these insertions have been implicated in non-homologous recombination, modulation of DNA methylation, and transcriptional regulation. If individual Alu insertions have even modest effects on local recombination rates, they could collectively have a significant impact on the pattern of linkage disequilibrium in the human genome and on the evolution of the Alu family itself.

resultsWe carried out sequencing, SNP identification, and SNP genotyping around 19 AluY insertion loci in 347 individuals sampled from diverse populations, then used the SNP genotypes to estimate local recombination rates around the AluY loci. The loci and SNPs were chosen so as to minimize other factors (such as SNP ascertainment bias and SNP density) that could influence recombination rate estimates. We detected a significant increase in recombination rate within approximately 2 kb of the AluY insertions in our African population sample. To test this observation against a larger set of AluY insertions, we applied our locus- and SNP-selection design and analyses to the HapMap Phase II data. In that data set, we observed a significantly increased recombination rate near AluY insertions in both the CEU and YRI populations.

conclusionWe show that the presence of a fixed AluY insertion is significantly predictive of an elevated local recombination rate within 2 kb of the insertion, independent of other known predictors. The magnitude of this effect, approximately a 6% increase, is comparable to the effects of some recombinogenic DNA sequence motifs identified via their association with recombination hot spots.

Indexed as

Recombination, GeneticAlu ElementsBase SequenceChildConsensus SequenceEvolution, MolecularGene DosageGenome, HumanHaplotypesHumansMutagenesis, InsertionalPolymorphism, Single NucleotideRacial GroupsTime Factors

Identifiers

PMID19917129
PMCPMC2785838
OpenAlexW2144054436

What OpenQuestion holds

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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.