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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”
From The Role of Retrotransposons and Endogenous Retroviruses in Age-Dependent Neurodegenerative Disorders (2024) · cites this paper as Kazazian & Moran 2017
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Citations
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Metadata
- 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 › Biochemistry, Genetics and Molecular Biology › Genetics › 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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