Gene expression
Do SNPs prove exonic splicing enhancers are real?
Open access · cc by · source: Europe PMC
Human polymorphism patterns validate computationally predicted ESEs and show splicing constrains exon evolution.
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
Structured fields used in claim comparison tables when every cited study has a complete layer.
Key findings
ESE disruption and near-splice positions show signatures consistent with purifying selection; splicing constrains human exon evolution.
Methodology
Mapped common SNPs onto exons relative to RESCUE-ESE motifs and splice-site proximity, comparing natural vs simulated mutations.
Limitations
Does not experimentally assay every predicted hexamer in every tissue.
How this study connects
Role on claims
Each row is a claim on a concept or method page where this paper supports, challenges, or qualifies the statement. Roles are hand-checked — not a model guess.
Multiple empirical papers in this library examine gene expression with mechanistic biological findings.
Evidence for the claim as stated.
ESE disruption and near-splice positions show signatures consistent with purifying selection; splicing constrains human exon evolution.
Evidence for the claim as stated.
Systems and scales differ across gene expression studies (species, tissues, methods), so mechanisms should not be over-generalised.
Evidence for the claim as stated.
Open questions
Tensions this paper is part of
From concept pages' “where studies disagree.” Disagreement means the same question; scope means different assays, populations, or outcomes.
Systems and scales differ across gene expression studies (species, tissues, methods), so mechanisms should not be over-generalised.
Related papers in this topic
Same topic cluster — not a recommendation engine.