ArticleNAR genomics and bioinformatics2020
Few SINEs of life: Alu elements have little evidence for biological relevance despite elevated translation.
Article in NAR genomics and bioinformatics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed.
- Sperm AluY Epimutations in Male Partners of Couples with Unexplained Recurrent Pregnancy Loss.bioRxiv : the preprint server for biology · 2026Article
- The Role of Alternative Splicing in Marine-Freshwater Divergence in Threespine Stickleback.Genome biology and evolution · 2025Article
- The state of the human coding gene catalogues.Database : the journal of biological databases and curation · 2025Article
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- Article
- More than 2,500 coding genes in the human reference gene set still have unsettled status.bioRxiv : the preprint server for biology · 2024Article
- The role of SRP9/SRP14 in regulating Alu RNA.RNA biology · 2024Review
- Repetitive DNA sequence detection and its role in the human genome.Communications biology · 2023Review
- Origins and Evolution of Human Tandem Duplicated Exon Substitution Events.Genome biology and evolution · 2022Article
- Alternative splicing as a source of phenotypic diversity.Nature reviews. Genetics · 2022Review
- Clinical variant interpretation and biologically relevant reference transcripts.NPJ genomic medicine · 2022Article
- Article
- Alu RNA and their roles in human disease states.RNA biology · 2021Article
- Elevated Alu retroelement copy number among workers exposed to diesel engine exhaust.Occupational and environmental medicine · 2021Article
- Assessing the functional relevance of splice isoforms.NAR genomics and bioinformatics · 2021Article
Corrections and comments
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Authors and funding
7 authors.
Funding
Abstract
Transposable elements colonize genomes and with time may end up being incorporated into functional regions. SINE Alu elements, which appeared in the primate lineage, are ubiquitous in the human genome and more than a thousand overlap annotated coding exons. Although almost all Alu-derived coding exons appear to be in alternative transcripts, they have been incorporated into the main coding transcript in at least 11 genes. The extent to which Alu regions are incorporated into functional proteins is unclear, but we detected reliable peptide evidence to support the translation to protein of 33 Alu-derived exons. All but one of the Alu elements for which we detected peptides were frame-preserving and there was proportionally seven times more peptide evidence for Alu elements as for other primate exons. Despite this strong evidence for translation to protein we found no evidence of selection, either from cross species alignments or human population variation data, among these Alu-derived exons. Overall, our results confirm that SINE Alu elements have contributed to the expansion of the human proteome, and this contribution appears to be stronger than might be expected over such a relatively short evolutionary timeframe. Despite this, the biological relevance of these modifications remains open to question.
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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.