ArticleNucleic acids research2005
Functional studies on the ATM intronic splicing processing element.
Article in Nucleic acids research, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 25 citations in OpenAlex.
- A day in the life of the spliceosome.Nature reviews. Molecular cell biology · 2014Review
- HnRNPH1/H2, U1 snRNP, and U11 snRNP cooperate to regulate the stability of the U11-48K pre-mRNA.RNA (New York, N.Y.) · 2013Article
- RNA splicing: a new player in the DNA damage response.International journal of cell biology · 2013Review
- Interaction of hnRNPA1/A2 and DAZAP1 with an Alu-derived intronic splicing enhancer regulates ATM aberrant splicing.PloS one · 2011Article
- A model in vitro system for co-transcriptional splicing.Nucleic acids research · 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
- Article
- The intronic splicing code: multiple factors involved in ATM pseudoexon definition.The EMBO journal · 2010Article
- Novel sequence variations in LAMA2 andSGCG genes modulating cis-acting regulatory elements and RNA secondary structure.Genetics and molecular biology · 2010Article
- An Alu-derived intronic splicing enhancer facilitates intronic processing and modulates aberrant splicing in ATM.Nucleic acids research · 2009Article
- Genetic variants in the Runt-related transcription factor 3 gene contribute to gastric cancer risk in a Chinese population.Cancer science · 2009Article
- Mechanistic role of a disease-associated genetic variant within the ADAM33 asthma susceptibility gene.BMC medical genetics · 2007Article
- RNA structure is a key regulatory element in pathological ATM and CFTR pseudoexon inclusion events.Nucleic acids research · 2007Article
- Defective splicing, disease and therapy: searching for master checkpoints in exon definition.Nucleic acids research · 2006Review
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In disease-associated genes, the understanding of the functional significance of deep intronic nucleotide variants may represent a difficult challenge. We have previously reported a new disease-causing mechanism that involves an intronic splicing processing element (ISPE) in ATM, composed of adjacent consensus 5' and 3' splice sites. A GTAA deletion within ISPE maintains potential adjacent splice sites, disrupts a non-canonical U1 snRNP interaction and activates an aberrant exon. In this paper, we demonstrate that binding of U1 snRNA through complementarity within a approximately 40 nt window downstream of the ISPE prevents aberrant splicing. By selective mutagenesis at the adjacent consensus ISPE splice sites, we show that this effect is not due to a resplicing process occurring at the ISPE. Functional comparison of the ATM mouse counterpart and evaluation of the pre-mRNA splicing intermediates derived from affected cell lines and hybrid minigene assays indicate that U1 snRNP binding at the ISPE interferes with the cryptic acceptor site. Activation of this site results in a stringent 5'-3' order of intron sequence removal around the cryptic exon. Artificial U1 snRNA loading by complementarity to heterologous exonic sequences represents a potential therapeutic method to prevent the usage of an aberrant CFTR cryptic exon. Our results suggest that ISPE-like intronic elements binding U1 snRNPs may regulate correct intron processing.
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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.