Evidence map›Paper›PMID 32847497›Full record

ArticleBMC genomics2020

Circular DNA intermediates in the generation of large human segmental duplications.

Javier U Chicote, Marcos López-Sánchez, Tomàs Marquès-Bonet, José Callizo, Luis A Pérez-Jurado, Antonio García-España

Abstract read
In one paragraph

Article in BMC genomics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Review
  2. Article
  3. Quantitative assessment reveals the dominance of duplicated sequences in germline-derived extrachromosomal circular DNA.Proceedings of the National Academy of Sciences of the United States of America · 2021
    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

6 authors.

Javier U ChicoteResearch Unit, Hospital Universitari de Tarragona Joan XXIII, Institut d'Investigació Sanitària Pere Virgili, Universitat Rovira i Virgili, 43005, Tarragona, Spain.
Marcos López-SánchezGenetics Unit, Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, 08003, Barcelona, Spain.
Tomàs Marquès-BonetInstitut de Biologia Evolutiva (CSIC-UPF), Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, 08003, Barcelona, Spain.
José CallizoDepartment of Ophthalmology, Hospital Universitari de Tarragona Joan XXIII, Institut d'Investigació Sanitària Pere Virgili, Universitat Rovira i Virgili, 43005, Tarragona, Spain.
Luis A Pérez-JuradoGenetics Unit, Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, 08003, Barcelona, Spain. luis.perez@upf.edu.
Antonio García-EspañaResearch Unit, Hospital Universitari de Tarragona Joan XXIII, Institut d'Investigació Sanitària Pere Virgili, Universitat Rovira i Virgili, 43005, Tarragona, Spain. antoniogem85@gmail.com.

Funding

Generalitat de Catalunya 2017SRG01974Instituto de Salud Carlos III FIS-PI1302481Instituto de Salud Carlos III FIS PI16/00504
6 · The paper itself

Abstract

backgroundDuplications of large genomic segments provide genetic diversity in genome evolution. Despite their importance, how these duplications are generated remains uncertain, particularly for distant duplicated genomic segments.

resultsHere we provide evidence of the participation of circular DNA intermediates in the single generation of some large human segmental duplications. A specific reversion of sequence order from A-B/C-D to B-A/D-C between duplicated segments and the presence of only microhomologies and short indels at the evolutionary breakpoints suggest a circularization of the donor ancestral locus and an accidental replicative interaction with the acceptor locus.

conclusionsThis novel mechanism of random genomic mutation could explain several distant genomic duplications including some of the ones that took place during recent human evolution.

Indexed as

DNA, CircularSegmental Duplications, GenomicGene DuplicationGenomeGenome, HumanHumansDNA, CircularChromoanasynthesis,Circular DNACopy number variantsHuman genome evolutionMMBIR/FoSTeSNHEJSegmental duplicationsX-Y transposed region

Identifiers

PMID32847497
PMCPMC7450558

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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.