ArticleGenome biology2002
Molecular archeology of L1 insertions in the human genome.
Article in Genome biology, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 134 papers.
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Who cites it
134 citing papers in PubMed, 233 citations in OpenAlex.
- Article
- Long-Standing Activity with Characteristic Genomic Insertion Signatures in Reptilian Bov-B LINEs and Associated Sauria SINEs.Biology · 2026Article
- Fourth-generation gene editors: Integration-based genome engineering.Molecular therapy. Advances · 2026Review
- Pangenome reference assemblies reveal the variation and recent activity of human LINE-1 retrotransposons.bioRxiv : the preprint server for biology · 2026Article
- TDP-43 dysfunction leads to the accumulation of cryptic transposable element-derived exons, crypTEs, in iPSC derived neurons and ALS/FTD patient tissues.bioRxiv : the preprint server for biology · 2026Article
- MosaicLev: modified Levenshtein distance for mobile element-aware genome comparison.Bioinformatics advances · 2026Article
- X-Linked Hypophosphatemia Caused by a New Partial Insertion of LINE-1 in theHuman mutation · 2026Article
- ColabCuraTE: an easy-to-use, web-based pipeline for the manual curation of transposable elements.Mobile DNA · 2025Article
- Review
- Direct identification ofbioRxiv : the preprint server for biology · 2025Article
- Image-based DNA sequencing encoding for detecting low-mosaicism somatic mobile element insertions.Nature communications · 2025Article
- Transposable elements as instructors of the immune system.Nature reviews. Immunology · 2025Review
- Review
- Structural mechanism of LINE-1 target-primed reverse transcription.Science (New York, N.Y.) · 2025Article
- Article
- Article
- From the genome's perspective: Bearing somatic retrotransposition to leverage the regulatory potential of L1 RNAs.BioEssays : news and reviews in molecular, cellular and developmental biology · 2025Review
- Retrotransposons and the brain: Exploring a complex relationship between mobile elements, stress, and neurological health.Neurobiology of stress · 2025Review
- Nuclear dualism without extensive DNA elimination in the ciliateProceedings of the National Academy of Sciences of the United States of America · 2024Article
- Duplications and Retrogenes Are Numerous and Widespread in Modern Canine Genomic Assemblies.Genome biology and evolution · 2024Article
74 more citing papers are in PubMed but not listed here.
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Authors and funding
6 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundAs the rough draft of the human genome sequence nears a finished product and other genome-sequencing projects accumulate sequence data exponentially, bioinformatics is emerging as an important tool for studies of transposon biology. In particular, L1 elements exhibit a variety of sequence structures after insertion into the human genome that are amenable to computational analysis. We carried out a detailed analysis of the anatomy and distribution of L1 elements in the human genome using a new computer program, TSDfinder, designed to identify transposon boundaries precisely.
resultsStructural variants of L1 elements shared similar trends in the length and quality of their target site duplications (TSDs) and poly(A) tails. Furthermore, we found no correlation between the composition and genomic location of the pre-insertion locus and the resulting anatomy of the L1 insertion. We verified that L1 insertions with TSDs have the 5'-TTAAAA-3' cleavage site associated with L1 endonuclease activity. In addition, the second target DNA cut required for L1 insertion weakly matches the consensus pattern TTAAAA. On the other hand, the L1-internal breakpoints of deleted and inverted L1 elements do not resemble L1 endonuclease cleavage sites. Finally, the genome sequence data indicate that whereas singly inverted elements are common, doubly inverted elements are almost never found.
conclusionsThe sequence data give no indication that the creation of L1 structural variants depends on characteristics of the insertion locus. In addition, the formation of 5' truncated and 5' inverted L1s are probably not due to the action of the L1 endonuclease.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.