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LINE-1 Retrotransposition Activity in Human Genomes
Open accessAbstract
Summary Long Interspersed Element-1 (LINE-1 or L1) sequences comprise the bulk of retrotransposition activity in the human genome; however, the abundance of highly active or ‘hot’ L1s in the human population remains largely unexplored. Here, we used a fosmid-based, paired-end DNA sequencing strategy to identify 68 full-length L1s which are differentially present among individuals but are absent from the human genome reference sequence. The majority of these L1s were highly active in a cultured cell retrotransposition assay. Genotyping 26 elements revealed that two L1s are only found in Africa and that two more are absent from the H952 subset of the Human Genome Diversity Panel. Therefore, these results suggest that ‘hot’ L1s are more abundant in the human population than previously appreciated, and that ongoing L1 retrotransposition continues to be a major source of inter-individual genetic variation.
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“LINE‐1 possesses high reverse transcriptase activity, which can transcribe mRNA to cDNA in the cytosol.75”
From Cellular senescence and senescence-associated secretory phenotype via the cGAS-STING signaling pathway in cancer (2020) · cites this paper as [75]
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Metadata
- Authors
- Beck, C. R., Collier, P., Macfarlane, C., Malig, M., Kidd, J. M., Eichler, E. E., Badge, R. M., & Moran, J. V.
- Affiliations
- University of Michigan (US)
- University of Leicester (GB)
- University of Washington (US)
- Howard Hughes Medical Institute (US)
- Corresponding author
- Beck, Christine R.
- Moran, John V.
- ORCID
- Venue
- Cell
- Publisher
- Elsevier BV
- Published
- 2010-06
- Volume
- 141
- Issue
- 7
- Pages
- 1159-1170
- ISSN
- 0092-8674 (ISSN-L)
- PMC
- PMC3013285
- OpenAlex
- W2035120673
- Semantic Scholar
- 67ee6ac6542db4f561b8ca3111a1b988d0d18f4a
- Cited by
- 632
- References
- 81
- Citations by year
- 2026: 39 · 2025: 40 · 2024: 19 · 2023: 37 · 2022: 44 · 2021: 43 · 2020: 38 · 2019: 43 · 2018: 32 · 2017: 49 · 2016: 36 · 2015: 39 · 2014: 30 · 2013: 42 · 2012: 32
- FWCI
- 54.85
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Cell (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Leicester Research Archive (University of Leicester) (submittedVersion)
- Funders
- National Science Foundation
- Howard Hughes Medical Institute
- Wellcome Trust (075163)
- National Institutes of Health
- National Human Genome Research Institute (P01HG004120, HG004120, T32HG000040)
- National Cancer Institute (5P30 CA 46592, P30CA046592)
- National Institute of General Medical Sciences (T32GM7544, T32GM007544, R01GM082970, GM060518, GM066695, R01GM060518, R01GM066695)
- 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
- LINE-1 retrotransposition, long interspersed element-1, human genome
- MeSH terms
- Base Sequence, Gene Frequency, Genetics, Population, Humans, Molecular Sequence Data, Phylogeny, Genome, Human, Long Interspersed Nucleotide Elements
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