The Landscape of L1 Retrotransposons in the Human Genome Is Shaped by Pre-insertion Sequence Biases and Post-insertion Selection
Open accessAbstract
L1 retrotransposons are transposable elements and major contributors of genetic variation in humans. Where L1 integrates into the genome can directly impact human evolution and disease. Here, we experimentally induced L1 retrotransposition in cells and mapped integration sites at nucleotide resolution. At local scales, L1 integration is mostly restricted by genome sequence biases and the specificity of the L1 machinery. At regional scales, L1 shows a broad capacity for integration into all chromatin states, in contrast to other known mobile genetic elements. However, integration is influenced by the replication timing of target regions, suggesting a link to host DNA replication. The distribution of new L1 integrations differs from those of preexisting L1 copies, which are significantly reshaped by natural selection. Our findings reveal that the L1 machinery has evolved to efficiently target all genomic regions and underline a predominant role for post-integrative processes on the distribution of endogenous L1 elements.
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LINE-1 comprises 17% of the human genome, about 500,000 copies, but only some 100-150 evolutionarily recent copies are full-length and lack mutations expected to affect function.
“LINE-1 (L1) comprises 17% of the human genome (~500,000 copies); however, only some 100–150 evolutionarily recent element copies are full-length and lack mutations that would be expected to affect function10–12.”
From The role of retrotransposable elements in ageing and age-associated diseases (2021) · cites this paper as [12]
The Introduction states that L1 accounts for about 500,000 copies and 17% of the human genome, and that roughly 100 copies in the youngest L1HS subfamily remain retrotransposition-competent. It describes intact L1 elements separately, but does not explicitly say that the counted copies are full-length and lack function-affecting mutations, or give a count of 100–150 for copies meeting those criteria. (LLM, conf=0.84)
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References 99 · Cited by 154
Research works printed but not linked: 1
- Han, K., Lee, J., Meyer, T.J., Remedios, P., Goodwin, L., and Batzer, M.A. (2008). L1 recombinationassociated deletions generate human genomic variation. Proc. Natl. Acad. Sci. U.S.a. 105 , 1936619371.
- Authors
- Sultana, T., van Essen, D., Siol, O., Bailly-Bechet, M., Philippe, C., Zine El Aabidine, A., Pioger, L., Nigumann, P., Saccani, S., Andrau, J.-C., Gilbert, N., & Cristofari, G.
- Affiliations
- Centre National de la Recherche Scientifique (FR)
- Venue
- Molecular Cell
- Publisher
- Elsevier BV
- Published
- 2019-05
- Volume
- 74
- Issue
- 3
- Pages
- 555-570.e7
- ISSN
- 1097-2765 (ISSN-L)
- OpenAlex
- W2928206577
- Cited by
- 154
- References
- 99
- Citations by year
- 2026: 17 · 2025: 17 · 2024: 16 · 2023: 21 · 2022: 24 · 2021: 26 · 2020: 20 · 2019: 13
- FWCI
- 15.29
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Molecular Cell (publishedVersion, other-oa)
- PubMed (publishedVersion)
- HAL (submittedVersion, cc-by-nc)
- Funders
- Canceropôle PACA
- Centre National de la Recherche Scientifique
- Education, Audiovisual and Culture Executive Agency
- Fondation pour la Recherche Médicale
- Agence Nationale de la Recherche
- European Research Council
- 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 retrotransposons, retrotransposition, transposable elements, integration site mapping, sequence bias, chromatin state, DNA replication timing, DNA replication, natural selection, human genome, mobile genetic elements
- MeSH terms
- Chromosome Mapping, DNA Transposable Elements, DNA Replication, HeLa Cells, Humans, Genome, Human, Retroelements, Long Interspersed Nucleotide Elements, Genomics
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