Cited by 445Chromosomal and Genetic VariationsGenomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Mobile DNA in Health and Disease

Open access
Kazazian, Haig H., Moran, John V.·2017·New England Journal of Medicine

Abstract

More than half the human genome is derived from transposable elements (also known as mobile DNA or “jumping genes”); some of these elements have been repurposed over time in the service of evolution. “Live” mobile elements are a rare cause of genetic disease.

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Integrity signals

Registry

Crossref · 10.1056/nejmra1510092

Cites

99 of 99 references verified0 citation errors · 0 not checkable

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  • The human genome contains over half a million LINE elements, of which over 100 from the human-specific LINE element subset (LINE1Hs) are replication competent.

    “The human genome contains over half a million LINE elements, of which over 100 from the human-specific LINE element subset (LINE1Hs) are replication competent”

    From The Role of Retrotransposons and Endogenous Retroviruses in Age-Dependent Neurodegenerative Disorders (2024) · cites this paper as Kazazian & Moran 2017

    The Retrotransposons section (page unavailable) says each human genome has more than 500,000 LINE-1 sequences, about 100 of which are active. It does not identify those active elements as LINE1Hs or say that more than 100 are replication competent. (LLM, conf=0.88)

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Cites

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Research works printed but not linked: 1

  1. [55]Morisada N Rendtorff ND Nozu K Branchiootorenal syndrome caused by partial EYA1 deletion due to LINE-1 insertion Pediatr Nephrol 2010 25 1343 8 20130917

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Authors
Kazazian, H. H., & Moran, J. V.
Affiliations
Johns Hopkins University (US)
Venue
New England Journal of Medicine
Published
2017-07-27
Volume
377
Issue
4
Pages
361-370
ISSN
  • 0028-4793 (ISSN-L)
  • 1533-4406
OpenAlex
W2737372261
Cited by
445
References
99
Citations by year
2026: 29 · 2025: 65 · 2024: 54 · 2023: 55 · 2022: 64 · 2021: 50 · 2020: 47 · 2019: 46 · 2018: 32 · 2017: 3
FWCI
3.64
Type
journal article
Language
en
Open access
Locations
  • New England Journal of Medicine (publishedVersion)
  • PubMed (publishedVersion)
  • Europe PMC (PubMed Central) (acceptedVersion)
  • PubMed Central (acceptedVersion)
Funders
  • National Institute of Mental Health (U01MH106892)
  • National Institute of General Medical Sciences (R01GM099875, P50GM107632)
Topics
  • Life Sciences › Agricultural and Biological Sciences › Plant Science › Chromosomal and Genetic Variations
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genome Rearrangement Algorithms
Keywords
mobile DNA, transposable elements, human genome, genetic disorders, evolution, genome evolution
MeSH terms
Disease, DNA Transposable Elements, Female, Hemophilia A, Humans, Male, Mutagens, RNA, Transcription, Genetic, Genome, Human, Retroelements, Long Interspersed Nucleotide Elements, Genomic Instability

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