FIG 7.
Proposed model for CD33 exon 2 splicing regulation. We propose that SRSF1 binding near the 3′ end of exon 2 enhances exon 2 inclusion in the CD33 pre-mRNA, regardless of the rs12459419 SNP genotype. At the same time, PTBP1 binding to the CD33 pre-mRNA also enhances exon 2 inclusion, potentially by antagonizing the action of other splicing regulators that functionally inhibit splice junction recognition. The rs12459419T SNP reduces the binding of PTBP1 to the proximal Py tract, thus leading to elevated exon 2 skipping.