Exonic splicing enhancer

In molecular biology, an exonic splicing enhancer (ESE) is a DNA sequence motif consisting of 6 bases within an exon that directs, or enhances, accurate splicing of heterogeneous nuclear RNA (hnRNA) or pre-mRNA into messenger RNA (mRNA).

It is thought that SR proteins that bind to ESEs promote exon splicing by increasing interactions with U2AF35 and U2AF65.

[2] Mutation of exonic splicing enhancer motifs is a significant contributor to genetic disorders and some cancers.

A field of genetic research is dedicated to determining the location and significance of ESE motifs in vivo.

[4] ESEs are clinically significant because synonymous point mutations previously thought to be silent mutations located in an ESEs can lead to exon skipping and the production of a non functioning protein.