ArticleNucleic acids research2004
Delineation of the mechanisms of aberrant splicing caused by two unusual intronic mutations in the RSK2 gene involved in Coffin-Lowry syndrome.
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 7 papers.
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7 citing papers in PubMed, 13 citations in OpenAlex.
- In or Out? New Insights on Exon Recognition through Splice-Site Interdependency.International journal of molecular sciences · 2020Article
- A Chinese family with Axenfeld-Rieger syndrome: report of the clinical and genetic findings.International journal of ophthalmology · 2017Article
- Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome.Journal of human genetics · 2016Article
- Epigenetic modulations in activated cells early after HIV-1 infection and their possible functional consequences.PloS one · 2015Article
- Analysis of RNA splicing defects in PITX2 mutants supports a gene dosage model of Axenfeld-Rieger syndrome.BMC medical genetics · 2006Article
- Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping.Human genetics · 2006Article
- A class of human exons with predicted distant branch points revealed by analysis of AG dinucleotide exclusion zones.Genome biology · 2006Article
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4 authors at 1 institution in 1 country.
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Abstract
Coffin-Lowry syndrome (CLS) is caused by mutations in the RSK2 gene encoding a protein kinase of the Ras signalling pathway. We have studied two point mutations which cause aberrant splicing but do not concern the invariant GT or AG nucleotides of splice sites. The first, an A-->G transition at position +3 of the 5' splice site of exon 6, results in vivo and in vitro in exon skipping and premature translation termination. The natural 5' splice site, although intrinsically weak, is not transactivated under normal conditions. Consequently, replacement of an A/U by a G/U base pairing with U1 snRNA reduces its strength below a critical threshold. The second mutation, an A-->G transition 11 nt upstream of exon 5, creates a new AG near the natural 3' splice site. In vitro this synthetic 3' AG is used exclusively by the splicing machinery. In vivo this splicing event is also observed, but is underestimated because the resulting RSK2 mRNA contains premature stop codons which trigger the nonsense-mediated decay process. We show that a particular mechanism is involved in the aberrant splicing of exon 5, implying involvement of the natural 3' AG during the first catalytic step and the new 3' AG during the second step. Thus, our results explain how these mutations cause severe forms of CLS.
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