Do SNPs prove exonic splicing enhancers are real?

Human polymorphism patterns validate computationally predicted ESEs and show splicing constrains exon evolution.

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What are ESEs?

Short oligonucleotide sequences that enhance exon recognition by the splicing machinery.

What evolutionary implication do SNP patterns support?

Splicing imposes important constraints on human exon evolution.

Which computational resource predicts ESEs here?

RESCUE-ESE.

Where is conservation/selection signal stronger?

Increasing proximity to splice sites.

What SNP features help find splicing-altering variants?

Proximity to splice sites and ESE disruption/alteration.

Why use SNPs for validation?

Common variation reflects selective pressures on functional motifs.

Biological process constrained?

Pre-mRNA splicing / exon recognition.

Have allele-specific splicing differences been reported?

Yes—prior reports motivate searching for ESE-disrupting SNPs.

Teaching point?

Population genetics can validate regulatory motifs like ESEs.

Organism/genome?

Human exons / genomic sequences.

What do ESEs often act through?

SR proteins that bind ESEs and recruit splicing machinery.