ArticleNucleic acids research2007
Reduced splicing efficiency induced by synonymous substitutions may generate a substrate for natural selection of new splicing isoforms: the case of CFTR exon 12.
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 8 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
8 citing papers in PubMed, 19 citations in OpenAlex.
- From paleness to albinism: Contribution of OCA2 exon 10 skipping to hypopigmentation.PLoS genetics · 2025Article
- Copper-binding proteins and exonic splicing enhancers and silencers.Metallomics : integrated biometal science · 2024Article
- Human NDE1 splicing and mammalian brain development.Scientific reports · 2017Article
- Exonic splicing signals impose constraints upon the evolution of enzymatic activity.Nucleic acids research · 2014Article
- The cystic fibrosis gene: a molecular genetic perspective.Cold Spring Harbor perspectives in medicine · 2013Review
- SpliceAid-F: a database of human splicing factors and their RNA-binding sites.Nucleic acids research · 2013Article
- An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects.Human molecular genetics · 2012Article
- Assessing the fraction of short-distance tandem splice sites under purifying selection.RNA (New York, N.Y.) · 2008Article
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Alternative splicing has been associated with increased evolutionary changes and with recent exon creation or loss. The addition of a new exon can be explained by its inclusion in only a fraction of the transcripts leaving the original form intact and giving to the new form the possibility to evolve independently but the exon loss phenomenon is less clear. To explore the mechanism that could be involved in CFTR exon 12 lower splicing efficiency in primates, we have analyzed the effect of multiple synonymous variations. Random patterns of synonymous variations were created in CFTR exon12 and the majority of them induced exon inclusion, suggesting a suboptimal splicing efficiency of the human gene. In addition, the effect of each single synonymous substitution on splicing is strongly dependent on the exonic context and does not correlate with available in silico exon splicing prediction programs. We propose that casual synonymous substitutions may lead to a reduced splicing efficiency that can result in a variable proportion of exon loss. If this phenomenon happens in in-frame exons and to an extent tolerated by the cells it can have an important evolutionary effect since it may generate a substrate for natural selection of new splicing isoforms.
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