FIGURE 2.

Schematic representation of the major steps of precursor messenger-RNA splicing and the involvement of the proteins that have been linked to spliceosomopathies. Proteins are grouped based on their activity and association with a specific complex of the spliceosome. The link to a specific disease is color-coded based on Figure 1. Proteins mutated in retinitis pigmentosa (green) are primarily associated with U4/U6 complex. Proteins mutated in myelodysplastic syndromes (blue) are primarily associated with U2 complex. Proteins mutated in craniofacial spliceosomopathies (orange) are distributed across all complexes. Exons are represented as yellow boxes. EJC, exon-junction complex