ArticleProceedings of the National Academy of Sciences of the United States of America2004
Variation in sequence and organization of splicing regulatory elements in vertebrate genes.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 141 papers.
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Who cites it
141 citing papers in PubMed, 230 citations in OpenAlex.
- G970R-CFTR Mutation (c.2908G>C) Results Predominantly in a Splicing Defect.Clinical and translational science · 2021Trial
- A mammalian genomic signature shaped by single nucleotide variants regulates transcriptome integrity and diversity.Genome biology · 2026Article
- Review
- Single-Base Substitution Causing Dual-Exon Skipping Event inJournal of clinical medicine · 2024Article
- MIPs: multi-locus intron polymorphisms in species identification and population genomics.Scientific reports · 2024Article
- An interpretable model of pre-mRNA splicing for animal and plant genes.Science advances · 2024Article
- Escaping from CRISPR-Cas-mediated knockout: the facts, mechanisms, and applications.Cellular & molecular biology letters · 2024Review
- Exonic splicing code and coordination of divalent metals in proteins.Nucleic acids research · 2024Article
- Conserved and divergent signals in 5' splice site sequences across fungi, metazoa and plants.PLoS computational biology · 2023Article
- Article
- Exonic splicing code and protein binding sites for calcium.Nucleic acids research · 2022Article
- Screening for phenotypic outliers identifies an unusually low concentration of a β-lactoglobulin B protein isoform in bovine milk caused by a synonymous SNP.Genetics, selection, evolution : GSE · 2022Article
- Alternative splicing level related to intron size and organism complexity.BMC genomics · 2021Article
- TargetedBiomedicines · 2021Article
- Restriction of an intron size en route to endothermy.Nucleic acids research · 2021Article
- Genome-wide evolution of wobble base-pairing nucleotides of branchpoint motifs with increasing organismal complexity.RNA biology · 2020Article
- Deletion of exons 17 and 18 in prestin's STAS domain results in loss of function.Scientific reports · 2019Article
- Human IL12RB1 expression is allele-biased and produces a novel IL12 response regulator.Genes and immunity · 2019Article
- Synonymous mutation adenomatous polyposis coliΔ486s affects exon splicing and may predispose patients to adenomatous polyposis coli/mutY DNA glycosylase mutation‑negative familial adenomatous polyposis.Molecular medicine reports · 2018Article
- Rare variants in the splicing regulatory elements of EXOC3L4 are associated with brain glucose metabolism in Alzheimer's disease.BMC medical genomics · 2018Article
81 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
4 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Although core mechanisms and machinery of premRNA splicing are conserved from yeast to human, the details of intron recognition often differ, even between closely related organisms. For example, genes from the pufferfish Fugu rubripes generally contain one or more introns that are not properly spliced in mouse cells. Exploiting available genome sequence data, a battery of sequence analysis techniques was used to reach several conclusions about the organization and evolution of splicing regulatory elements in vertebrate genes. The classical splice site and putative branch site signals are completely conserved across the vertebrates studied (human, mouse, pufferfish, and zebrafish), and exonic splicing enhancers also appear broadly conserved in vertebrates. However, another class of splicing regulatory elements, the intronic splicing enhancers, appears to differ substantially between mammals and fish, with G triples (GGG) very abundant in mammalian introns but comparatively rare in fish. Conversely, short repeats of AC and GT are predicted to function as intronic splicing enhancers in fish but are not enriched in mammalian introns. Consistent with this pattern, exonic splicing enhancer-binding SR proteins are highly conserved across all vertebrates, whereas heterogeneous nuclear ribonucleoproteins, which bind many intronic sequences, vary in domain structure and even presence/absence between mammals and fish. Exploiting differences in intronic sequence composition, a statistical model was developed to predict the splicing phenotype of Fugu introns in mammalian systems and was used to engineer the spliceability of a Fugu intron in human cells by insertion of specific sequences, thereby rescuing splicing in human cells.
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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.