ArticleHuman genetics2010
Transposable elements in disease-associated cryptic exons.
Article in Human genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 65 papers.
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65 citing papers in PubMed, 110 citations in OpenAlex.
- Long-read sequencing maps transposable element variation and its regulatory and epigenetic effects in the human brain.bioRxiv : the preprint server for biology · 2026Article
- Diversity and consequences of structural variation in the human genome.Nature reviews. Genetics · 2025Review
- Alu insertion-mediated dsRNA structure formation with pre-existing Alu elements as a disease-causing mechanism.American journal of human genetics · 2024Article
- PredictingbioRxiv : the preprint server for biology · 2024Article
- Alu RNA fold links splicing with signal recognition particle proteins.Nucleic acids research · 2023Article
- Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism.International journal of molecular sciences · 2022Article
- Antisense Oligonucleotide Rescue of Deep-Intronic Variants Activating Pseudoexons in the 6-Pyruvoyl-Tetrahydropterin Synthase Gene.Nucleic acid therapeutics · 2022Article
- Article
- Regulation of A-to-I RNA editing and stop codon recoding to control selenoprotein expression during skeletal myogenesis.Nature communications · 2022Article
- Migrators within migrators: exploring transposable element dynamics in the monarch butterfly, Danaus plexippus.Mobile DNA · 2022Article
- A spotter's guide to SNPtic exons: The common splice variants underlying some SNP-phenotype correlations.Molecular genetics & genomic medicine · 2022Article
- The Role of Transposable Elements in Sexual Development.Frontiers in behavioral neuroscience · 2022Review
- Comparative analysis of transposable elements provides insights into genome evolution in the genus Camelus.BMC genomics · 2021Article
- Lack of relationship between Alu repetitive elements in angiotensin converting enzyme and the severity of diabetic retinopathy.Journal of medical biochemistry · 2021Article
- Restriction of an intron size en route to endothermy.Nucleic acids research · 2021Article
- Transposon clusters as substrates for aberrant splice-site activation.RNA biology · 2021Article
- Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.Frontiers in genetics · 2021Article
- Detection ofFrontiers in molecular biosciences · 2021Article
- Insertion of an Alu-like element in MLH1 intron 7 as a novel cause of Lynch syndrome.Molecular genetics & genomic medicine · 2020Article
- The role of hnRNPs in frontotemporal dementia and amyotrophic lateral sclerosis.Acta neuropathologica · 2020Review
5 more citing papers are in PubMed but not listed here.
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Transposable elements (TEs) make up a half of the human genome, but the extent of their contribution to cryptic exon activation that results in genetic disease is unknown. Here, a comprehensive survey of 78 mutation-induced cryptic exons previously identified in 51 disease genes revealed the presence of TEs in 40 cases (51%). Most TE-containing exons were derived from short interspersed nuclear elements (SINEs), with Alus and mammalian interspersed repeats (MIRs) covering >18 and >16% of the exonized sequences, respectively. The majority of SINE-derived cryptic exons had splice sites at the same positions of the Alu/MIR consensus as existing SINE exons and their inclusion in the mRNA was facilitated by phylogenetically conserved changes that improved both traditional and auxiliary splicing signals, thus marking intronic TEs amenable for pathogenic exonization. The overrepresentation of MIRs among TE exons is likely to result from their high average exon inclusion levels, which reflect their strong splice sites, a lack of splicing silencers and a high density of enhancers, particularly (G)AA(G) motifs. These elements were markedly depleted in antisense Alu exons, had the most prominent position on the exon-intron gradient scale and are proposed to promote exon definition through enhanced tertiary RNA interactions involving unpaired (di)adenosines. The identification of common mechanisms by which the most dynamic parts of the genome contribute both to new exon creation and genetic disease will facilitate detection of intronic mutations and the development of computational tools that predict TE hot-spots of cryptic exon activation.
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