Purifying Selection on Exonic Splice Enhancers in Intronless Genes.

In this manner, we found a median fraction of segregating sites with a low MAF of ≈0.295 (range from ≈0.274 to ≈0.313) in ESEs in single-exon genes and of ≈0.380 (range from ≈0.377 to ≈0.385) in multi-exon genes, the first fraction being significantly and the second nearly significantly higher than expected from simulations (median one-tailed P values ≈0.017 and ≈0.053, respectively).

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When broad set retrocopies were removed, the extent of the SNP depletion in intronless gene ESEs was ≈14.2%, a much greater effect size than for the full set although still not quite significant ( P ≈ 0.092, one-tailed from empirical simulation).

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