ArticleProceedings of the National Academy of Sciences of the United States of America2008
L1 recombination-associated deletions generate human genomic variation.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 91 papers.
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91 citing papers in PubMed, 136 citations in OpenAlex.
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- Dissolution of ribonucleoprotein condensates by the embryonic stem cell protein L1TD1.Nucleic acids research · 2024Article
- Small polymorphisms are a source of ancestral bias in structural variant breakpoint placement.Genome research · 2024Article
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- Navigating the brain and aging: exploring the impact of transposable elements from health to disease.Frontiers in cell and developmental biology · 2024Review
- Small allelic variants are a source of ancestral bias in structural variant breakpoint placement.bioRxiv : the preprint server for biology · 2023Article
- Transposable element-mediated rearrangements are prevalent in human genomes.Nature communications · 2022Article
- Transposon control as a checkpoint for tissue regeneration.Development (Cambridge, England) · 2022Article
- Human Retrotransposons and Effective Computational Detection Methods for Next-Generation Sequencing Data.Life (Basel, Switzerland) · 2022Review
- Low-cost and clinically applicable copy number profiling using repeat DNA.BMC genomics · 2022Article
- Role of Transposable Elements in Genome Stability: Implications for Health and Disease.International journal of molecular sciences · 2022Review
- A comprehensive analysis of gorilla-specific LINE-1 retrotransposons.Genes & genomics · 2021Article
- A study of transposable element-associated structural variations (TASVs) using a de novo-assembled Korean genome.Experimental & molecular medicine · 2021Article
- Distribution of Merlin in eukaryotes and first report of DNA transposons in kinetoplastid protists.PloS one · 2021Article
- Differences between human and chimpanzee genomes and their implications in gene expression, protein functions and biochemical properties of the two species.BMC genomics · 2020Review
- Regulation of Error-Prone DNA Double-Strand Break Repair and Its Impact on Genome Evolution.Cells · 2020Review
- Structural variation and its potential impact on genome instability: Novel discoveries in the EGFR landscape by long-read sequencing.PloS one · 2020Article
- Two Compound Heterozygous Variants inFrontiers in genetics · 2020Article
- Review
- Ten things you should know about transposable elements.Genome biology · 2018Review
31 more citing papers are in PubMed but not listed here.
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
Mobile elements have created structural variation in the human genome through their de novo insertions and post-insertional genomic rearrangements. L1 elements are a type of long interspersed element (LINE) that is dispersed at high copy numbers within most mammalian genomes. To determine the magnitude of L1 recombination-associated deletions (L1RADs), we computationally extracted L1RAD candidates by comparing the human and chimpanzee genomes and verified each of the L1RAD events by using wet-bench analyses. Through these analyses, we identified 73 human-specific L1RAD events that occurred subsequent to the divergence of the human and chimpanzee lineages. Despite their low frequency, the L1RAD events deleted approximately 450 kb of the human genome. One L1RAD event generated a large deletion of approximately 64 kb. Multiple alignments of prerecombination and postrecombination L1 elements suggested that two different deletion mechanisms generated the L1RADs: nonallelic homologous recombination (55 events) and nonhomologous end joining between two L1s (18 events). In addition, the position of L1RADs throughout the genome does not correlate with local chromosomal recombination rates. This process may be implicated in the partial regulation of L1 copy numbers by the finding that approximately 60% of the DNA sequences deleted by the L1RADs consist of L1 sequences that were either directly involved in the recombination events or located in the intervening sequence between recombining L1s. Overall, there is increasing evidence that L1RADs have played an important role in creating structural variation.
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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.