Evidence map›Paper›PMID 22406018›Full record

ReviewCurrent opinion in genetics & development2012

Active human retrotransposons: variation and disease.

Dustin C Hancks, Haig H Kazazian

Abstract readReview
In one paragraph

Review in Current opinion in genetics & development, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 367 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
367citing papers in PubMed, 1 pooled it
73.6field-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

367 citing papers in PubMed, 1 synthesis or guideline pooled it, 593 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Review
  4. Review
  5. Article
  6. Article
  7. Article
  8. Article
  9. LINE-1 retrotransposition is a recurrent cause ofbioRxiv : the preprint server for biology · 2026
    Article
  10. Article
  11. Review
  12. Article
  13. Article
  14. Direct identification ofbioRxiv : the preprint server for biology · 2025
    Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. LINE-1 retrotransposon activation drives age-associated inflammationContemporary oncology (Poznan, Poland) · 2025
    Review

307 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

2 authors at 1 institution in 1 country.

Dustin C HancksMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, United States.
Haig H Kazazian
Johns Hopkins Medicine · US

Funding

HUMAN TRANSPOSABLE ELEMENTR01GM045398 · NIGMS · UNIVERSITY OF PENNSYLVANIA · PI KAZAZIAN, HAIG H. · 1991 to 2010
$4.7M
Retrotransposition in Health and DiseaseR01GM099875 · NIGMS · JOHNS HOPKINS UNIVERSITY · PI KAZAZIAN, HAIG H. · 2012 to 2019
$4.0M
NIGMS NIH HHS R01 GM045398NIGMS NIH HHS R01 GM099875
6 · The paper itself

Abstract

Mobile DNAs, also known as transposons or 'jumping genes', are widespread in nature and comprise an estimated 45% of the human genome. Transposons are divided into two general classes based on their transposition intermediate (DNA or RNA). Only one subclass, the non-LTR retrotransposons, which includes the Long INterspersed Element-1 (LINE-1 or L1), is currently active in humans as indicated by 96 disease-causing insertions. The autonomous LINE-1 is capable of retrotransposing not only a copy of its own RNA in cis but also other RNAs (Alu, SINE-VNTR-Alu (SVA), U6) in trans to new genomic locations through an element encoded reverse transcriptase. L1 can also retrotranspose cellular mRNAs, resulting in processed pseudogene formation. Here, we highlight recent reports that update our understanding of human L1 retrotransposition and their role in disease. Finally we discuss studies that provide insights into the past and current activity of these retrotransposons, and shed light on not just when, but where, retrotransposition occurs and its part in genetic variation.

Indexed as

DNA Transposable ElementsGenome, HumanAlu ElementsDNA MethylationGenetic Diseases, InbornGenetic VariationHumansLong Interspersed Nucleotide ElementsOpen Reading FramesPromoter Regions, GeneticPseudogenesRNATime FactorsTranscription, GeneticUntranslated RegionsDNA Transposable ElementsRNAUntranslated Regions

Identifiers

PMID22406018
PMCPMC3376660
OpenAlexW2040741651

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.