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
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
Flashcards
Want these cards to stick?
Save the deck to NoteFren and study it with spaced repetition.
Quiz yourself
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
More on Gene expression