Cited by 638Chromosomal and Genetic VariationsGenomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

LINE-1 Retrotransposition Activity in Human Genomes

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Beck, Christine R., Collier, Pamela, Macfarlane, Catriona, Malig, Maika, Kidd, Jeffrey M., Eichler, Evan E., Badge, Richard M., Moran, John V.·2010·Cell

Abstract

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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Crossref · 10.1016/j.cell.2010.05.021

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  • LINE-1 possesses high reverse transcriptase activity, which can transcribe mRNA to cDNA in the cytosol.

    “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]

    The Results section ('Hallmarks and insertion locations of L1s identified in this study'; page unavailable) describes LINE-1 target-primed reverse transcription, and the Abstract reports that many identified LINE-1 elements were highly active in a retrotransposition assay. The copy does not establish that LINE-1 converts mRNA to cDNA in the cytosol, or measure 'high reverse transcriptase activity' as distinct from retrotransposition activity. (LLM, conf=0.84)

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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.
Venue
Cell
Publisher
Elsevier BV
Published
2010-06
Volume
141
Issue
7
Pages
1159-1170
ISSN
0092-8674 (ISSN-L)
OpenAlex
W2035120673
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
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 › 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
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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