Evidence map›Paper›PMID 20603005›Full record

ArticleCell2010

Natural mutagenesis of human genomes by endogenous retrotransposons.

Rebecca C Iskow, Michael T McCabe, Ryan E Mills, Spencer Torene, W Stephen Pittard, Andrew F Neuwald, Erwin G Van Meir, Paula M Vertino, Scott E Devine

Abstract read
In one paragraph

Article in Cell, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 358 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
358citing papers in PubMed, 1 pooled it
79.1field-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

358 citing papers in PubMed, 1 synthesis or guideline pooled it, 557 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Article
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  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Review
  12. Review
  13. Article
  14. A multi-omics analysis of human fibroblasts overexpressing anbioRxiv : the preprint server for biology · 2025
    Article
  15. Enhancer activation from transposable elements in extrachromosomal DNA.bioRxiv : the preprint server for biology · 2025
    Article
  16. Review
  17. Review
  18. Review
  19. Review
  20. Article

298 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

9 authors at 3 institutions in 1 country.

Rebecca C IskowGenetics and Molecular Biology Graduate Program, Emory University, Atlanta, GA 30322, USA.
Michael T McCabe
Ryan E Mills
Spencer Torene
W Stephen Pittard
Andrew F Neuwald
Erwin G Van Meir
Paula M Vertino
Scott E Devine
Emory University · USUniversity of Maryland, Baltimore · USWinship Cancer Institute

Funding

PREDOCTORAL TRAINING PROGRAM IN GENETICST32GM008490 · NIGMS · EMORY UNIVERSITY · PI BOSS, JEREMY M. · 1993 to 2022
$8.0M
Targeting Microtubules and HDAC6 in NSCLCP01CA116676 · NCI · EMORY UNIVERSITY · PI KHURI, FADLO RAJA · 2006 to 2012
$8.0M
THERAPEUTIC MODULATION OF ANGIOGENESIS IN HUMAN GLIOMASR01CA086335 · NCI · EMORY UNIVERSITY · PI VAN MEIR, ERWIN G. · 2000 to 2011
$3.9M
Natural Genetic Variation in the Human GenomeR01HG002898 · NHGRI · UNIVERSITY OF MARYLAND BALTIMORE · PI DEVINE, SCOTT E · 2004 to 2019
$3.7M
Targeting Glioblastoma Using Novel Small Molecule HIF-1 Pathway InhibitorsR01CA116804 · NCI · EMORY UNIVERSITY · PI VAN MEIR, ERWIN G. · 2007 to 2011
$2.5M
Defining Genomic Signatures for Aberrant DNA Methylation in Human CancersR01CA132065 · NCI · EMORY UNIVERSITY · PI VERTINO, PAULA M. · 2009 to 2013
$1.5M
Predicting common protein mechanisms by the light of evolutionR01GM078541 · NIGMS · UNIVERSITY OF MARYLAND BALTIMORE · PI NEUWALD, ANDREW F · 2006 to 2009
$1.0M
Improving INDEL Identification in Genomic SequencesF32HG004207 · NHGRI · EMORY UNIVERSITY · PI MILLS, RYAN E · 2006 to 2008
$99k
NCI NIH HHS 1R01CA132065NCI NIH HHS 5P01CA116676NCI NIH HHS P01 CA116676NCI NIH HHS R01 CA086335NCI NIH HHS R01CA086335NCI NIH HHS R01 CA116804NCI NIH HHS R01CA116804NCI NIH HHS R01 CA132065NHGRI NIH HHS F32 HG004207NHGRI NIH HHS F32HG004207NHGRI NIH HHS R01 HG002898NHGRI NIH HHS R01HG002898NIGMS NIH HHS R01 GM078541NIGMS NIH HHS R01GM078541NIGMS NIH HHS T32 GM008490
6 · The paper itself

Abstract

Two abundant classes of mobile elements, namely Alu and L1 elements, continue to generate new retrotransposon insertions in human genomes. Estimates suggest that these elements have generated millions of new germline insertions in individual human genomes worldwide. Unfortunately, current technologies are not capable of detecting most of these young insertions, and the true extent of germline mutagenesis by endogenous human retrotransposons has been difficult to examine. Here, we describe technologies for detecting these young retrotransposon insertions and demonstrate that such insertions indeed are abundant in human populations. We also found that new somatic L1 insertions occur at high frequencies in human lung cancer genomes. Genome-wide analysis suggests that altered DNA methylation may be responsible for the high levels of L1 mobilization observed in these tumors. Our data indicate that transposon-mediated mutagenesis is extensive in human genomes and is likely to have a major impact on human biology and diseases.

Indexed as

Alu ElementsGenome, HumanLong Interspersed Nucleotide ElementsMutagenesisBrain NeoplasmsHumansLung NeoplasmsMethylationSequence Analysis, DNA

Identifiers

PMID20603005
PMCPMC2943760
OpenAlexW2146892790

What OpenQuestion holds

Textmetadata
LicenceTDM
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.