Mobile DNA in Health and Disease
Open accessAbstract
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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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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- Authors
- Kazazian, H. H., & Moran, J. V.
- Affiliations
- Johns Hopkins University (US)
- ORCID
- Moran, John V.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2017-07-27
- Volume
- 377
- Issue
- 4
- Pages
- 361-370
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- PMC
- PMC5980640
- 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
- green
- europepmc.org
- 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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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