Do SNPs prove exonic splicing enhancers are real?
Human polymorphism patterns validate computationally predicted ESEs and show splicing constrains exon evolution.
Source
Single nucleotide polymorphism-based validation of exonic splicing enhancers
Study at a glance
- Design
- Computational / modelling — Mapped common SNPs onto exons relative to RESCUE-ESE motifs vs simulated mutations
- N
- Human SNP/ESE comparative genomics — not a sample-N study
- Population
- Human exonic SNPs and splicing-enhancer motif sets
- Outcome
- Purifying selection signatures on exonic splicing enhancers
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Do SNPs prove exonic splicing enhancers are real?
These passages occur verbatim in the stored paper text. They support the points listed below; they do not verify every statement in the explanation.
What are ESEs?
Exonic splicing enhancers (ESEs) were identified about a decade ago as short oligonucleotide sequences that enhance exon recognition by the splicing machinery (reviewed in and ).
What evolutionary implication do SNP patterns support?
splicing imposes important constraints on the evolution of human exons.
What they did
Mapped common SNPs onto exons relative to RESCUE-ESE motifs and splice-site proximity, comparing natural vs simulated mutations.
What they found
ESE disruption and near-splice positions show signatures consistent with purifying selection; splicing constrains human exon evolution.
The limits
What it doesn't show
Does not experimentally assay every predicted hexamer in every tissue.
Key terms
- ESE
- Exonic splicing enhancer motif aiding exon recognition
- SNP
- Common single-nucleotide polymorphism
- RESCUE-ESE
- Computational method predicting ESEs
- Purifying selection
- Removal of deleterious alleles
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ESEs enhance
Common questions
What are ESEs?
Short sequences enhancing splicing
Key constraint?
Splicing shapes exon evolution
Useful features?
Splice proximity and ESE disruption
Data?
Human dbSNP / exons
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