ArticleNucleic acids research2007
RNA structure is a key regulatory element in pathological ATM and CFTR pseudoexon inclusion events.
Article in Nucleic acids research, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
25 citing papers in PubMed, 57 citations in OpenAlex.
- How does precursor RNA structure influence RNA processing and gene expression?Bioscience reports · 2023Review
- Features of CFTR mRNA and implications for therapeutics development.Frontiers in genetics · 2023Review
- A Deep Intronic Variant Activates a Pseudoexon in theMolecular syndromology · 2020Article
- A novel role of U1 snRNP: Splice site selection from a distance.Biochimica et biophysica acta. Gene regulatory mechanisms · 2019Review
- PUF60-activated exons uncover altered 3' splice-site selection by germline missense mutations in a single RRM.Nucleic acids research · 2018Article
- Deep intronic mutations and human disease.Human genetics · 2017Review
- A birth of bipartite exon by intragenic deletion.Molecular genetics & genomic medicine · 2017Article
- Diverse role of survival motor neuron protein.Biochimica et biophysica acta. Gene regulatory mechanisms · 2017Review
- Lessons from non-canonical splicing.Nature reviews. Genetics · 2016Review
- An intronic structure enabled by a long-distance interaction serves as a novel target for splicing correction in spinal muscular atrophy.Nucleic acids research · 2013Article
- Role of pseudoexons and pseudointrons in human cancer.International journal of cell biology · 2013Review
- An antisense microwalk reveals critical role of an intronic position linked to a unique long-distance interaction in pre-mRNA splicing.RNA (New York, N.Y.) · 2010Article
- HMGA1a trapping of U1 snRNP at an authentic 5' splice site induces aberrant exon skipping in sporadic Alzheimer's disease.Molecular and cellular biology · 2010Article
- A comparative taxonomy of parallel algorithms for RNA secondary structure prediction.Evolutionary bioinformatics online · 2010Article
- The intronic splicing code: multiple factors involved in ATM pseudoexon definition.The EMBO journal · 2010Article
- Functional properties and evolutionary splicing constraints on a composite exonic regulatory element of splicing in CFTR exon 12.Nucleic acids research · 2010Article
- An Alu-derived intronic splicing enhancer facilitates intronic processing and modulates aberrant splicing in ATM.Nucleic acids research · 2009Article
- Cryptic exon activation by disruption of exon splice enhancer: novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency.The Journal of biological chemistry · 2009Article
- Alu exonization events reveal features required for precise recognition of exons by the splicing machinery.PLoS computational biology · 2009Article
- A nonsense exon in the Tpm1 gene is silenced by hnRNP H and F.RNA (New York, N.Y.) · 2009Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Genomic variations deep in the intronic regions of pre-mRNA molecules are increasingly reported to affect splicing events. However, there is no general explanation why apparently similar variations may have either no effect on splicing or cause significant splicing alterations. In this work we have examined the structural architecture of pseudoexons previously described in ATM and CFTR patients. The ATM case derives from the deletion of a repressor element and is characterized by an aberrant 5'ss selection despite the presence of better alternatives. The CFTR pseudoexon instead derives from the creation of a new 5'ss that is used while a nearby pre-existing donor-like sequence is never selected. Our results indicate that RNA structure is a major splicing regulatory factor in both cases. Furthermore, manipulation of the original RNA structures can lead to pseudoexon inclusion following the exposure of unused 5'ss already present in their wild-type intronic sequences and prevented to be recognized because of their location in RNA stem structures. Our data show that intrinsic structural features of introns must be taken into account to understand the mechanism of pseudoexon activation in genetic diseases. Our observations may help to improve diagnostics prediction programmes and eventual therapeutic targeting.
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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.