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Exon 7 ESE and ESS model of pre-mRNA splicing. Schematic of the SMN genes with each consisting of a weak 3’ and 5’ splice site. The SMN1 gene contains an ESE where SF2/ASF binding occurs which promotes exonic inclusion. In the SMN2 gene where position 6 contains a T nucleotide the SF2/ASF ESE is disrupted while a hnRNP A1 site is formed creating a new ESS. This mutated site disrupts exon recognition of exon 7 and promotes exon skipping.
