ArticleGenome research2008
Active Alu retrotransposons in the human genome.
Article in Genome research, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 179 papers.
What it found
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Who cites it
179 citing papers in PubMed, 280 citations in OpenAlex.
- Short-term diesel exhaust inhalation in a controlled human crossover study is associated with changes in DNA methylation of circulating mononuclear cells in asthmatics.Particle and fibre toxicology · 2014Trial
- Active Human Transposable Elements: Long-Read Sequencing Technologies, Computational Analysis, and Implications for Human Disease.Biomolecules · 2026Review
- Cooperation, competition and enforcement in transposon evolution.Nature communications · 2026Article
- A multi-omics analysis of human fibroblasts overexpressing an Alu transposon reveals widespread disruptions in aging-associated pathways.GeroScience · 2026Article
- Widespread distribution of Alu/Alu-mediated genomic rearrangement predisposing to a broad range of Mendelian disease and cancer in human populations.Genome medicine · 2026Article
- A catalogue of early diverged contemporary human genome variation reveals distinct Khoe-San populations.Nature communications · 2026Article
- Repeats mimic pathogen-associated patterns across a vast evolutionary landscape.Cell genomics · 2025Article
- 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
- A multi-omics analysis of human fibroblasts overexpressing anbioRxiv : the preprint server for biology · 2025Article
- Alu RNA pseudoknot alterations influence SRP9/SRP14 association.RNA (New York, N.Y.) · 2025Article
- Multi-species analysis of inflammatory response elements reveals ancient and lineage-specific contributions of transposable elements to NF-kB binding.Genome research · 2025Article
- Identification of a minimal Alu domain required for retrotransposition.Nucleic acids research · 2025Article
- Massively parallel jumping assay decodes Alu retrotransposition activity.Nature communications · 2025Article
- Coexistence versus collapse in transposon populations.Physical review. E · 2025Article
- Ribosomal DNA arrays are the most H-DNA rich element in the human genome.NAR genomics and bioinformatics · 2025Article
- Multi-ancestry GWAS reveals loci linked to human variation in LINE-1- and Alu-insertion numbers.bioRxiv : the preprint server for biology · 2025Article
- The topography of nullomer-emerging mutations and their relevance to human disease.Computational and structural biotechnology journal · 2025Article
- Multi-ancestry GWAS reveals loci linked to human variation in LINE-1- and Alu-insertion numbers.Translational medicine of aging · 2025Article
- IRescue: uncertainty-aware quantification of transposable elements expression at single cell level.Nucleic acids research · 2024Article
119 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
Abstract
Alu retrotransposons evolved from 7SL RNA approximately 65 million years ago and underwent several rounds of massive expansion in primate genomes. Consequently, the human genome currently harbors 1.1 million Alu copies. Some of these copies remain actively mobile and continue to produce both genetic variation and diseases by "jumping" to new genomic locations. However, it is unclear how many active Alu copies exist in the human genome and which Alu subfamilies harbor such copies. Here, we present a comprehensive functional analysis of Alu copies across the human genome. We cloned Alu copies from a variety of genomic locations and tested these copies in a plasmid-based mobilization assay. We show that functionally intact core Alu elements are highly abundant and far outnumber all other active transposons in humans. A range of Alu lineages were found to harbor such copies, including all modern AluY subfamilies and most AluS subfamilies. We also identified two major determinants of Alu activity: (1) The primary sequence of a given Alu copy, and (2) the ability of the encoded RNA to interact with SRP9/14 to form RNA/protein (RNP) complexes. We conclude that Alu elements pose the largest transposon-based mutagenic threat to the human genome. On the basis of our data, we have begun to identify Alu copies that are likely to produce genetic variation and diseases in humans.
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What OpenQuestion holds
Registered trials
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.