ArticleNucleic acids research2004
Silencer elements as possible inhibitors of pseudoexon splicing.
Article in Nucleic acids research, 2004. 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, 136 citations in OpenAlex.
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- Systematic characterization of short intronic splicing-regulatory elements in SMN2 pre-mRNA.Nucleic acids research · 2022Article
- Identification and in silico characterization of structural and functional impacts of genetic variants in milk protein genes in the Zebu breeds Guzerat and Gyr.Tropical animal health and production · 2021Article
- Molecular insights into the role of genetic determinants of congenital hypothyroidism.Genomics & informatics · 2021Article
- Growth Hormone Receptor (GHR) 6Ω Pseudoexon Activation: a Novel Cause of Severe Growth Hormone Insensitivity.The Journal of clinical endocrinology and metabolism · 2021Article
- Efficient splicing-based RNA regulators for tetracycline-inducible gene expression in human cell culture and C. elegans.Nucleic acids research · 2021Article
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- F5-Atlanta: A novel mutation in F5 associated with enhanced East Texas splicing and FV-short production.Journal of thrombosis and haemostasis : JTH · 2021Article
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- Implications of SARS-CoV-2 Mutations for Genomic RNA Structure and Host microRNA Targeting.International journal of molecular sciences · 2020Article
- Deep Intronic Mutation in SERPING1 Caused Hereditary Angioedema Through Pseudoexon Activation.Journal of clinical immunology · 2020Article
- Targeted resequencing of FECH locus reveals that a novel deep intronic pathogenic variant and eQTLs may cause erythropoietic protoporphyria (EPP) through a methylation-dependent mechanism.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4.Human mutation · 2019Article
- Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease.BMC medical genetics · 2018Article
- Microcephaly Modeling of Kinetochore Mutation Reveals a Brain-Specific Phenotype.Cell reports · 2018Article
- The synonymous nucleotide substitution RHD 1056C>G alters mRNA splicing associated with serologically weak D phenotype.Journal of clinical laboratory analysis · 2018Article
- A novel mutation in exon 9 of Cullin 3 gene contributes to aberrant splicing in pseudohypoaldosteronism type II.FEBS open bio · 2018Article
- Identification of Eight Spliceogenic Variants in BRCA2 Exon 16 by Minigene Assays.Frontiers in genetics · 2018Article
5 more citing papers are in PubMed but not listed here.
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Human pre-mRNAs contain a definite number of exons and several pseudoexons which are located within intronic regions. We applied a computational approach to address the question of how pseudoexons are neglected in favor of exons and to possibly identify sequence elements preventing pseudoexon splicing. A search for possible splicing silencers was carried out on a pseudoexon selection that resembled exons in terms of splice site strength and exon splicing enhancer (ESE) representation; three motifs were retrieved through hexamer composition comparisons. One of these functions as a powerful silencer in transfection-based splicing assays and matches a previously identified silencer sequence with hnRNP H binding ability. The other two motifs are novel and failed to induce skipping of a constitutive exon, indicating that they might act as weak repressors or in synergy with other unidentified elements. All three motifs are enriched in pseudoexons compared with intronic regions and display higher frequencies in intronless gene-coding sequences compared with exons. We consider that a subpopulation of pseudoexons might rely on negative regulators for splicing repression; this hypothesis, if experimentally verified, might improve our understanding of exonic splicing regulatory sequences and provide the identification of a novel mutation target for human genetic diseases.
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