Figure 1.
Spliceosome assembly on pre-mRNA and pathogenic mutations. Schematic representation of the consensus sequences on pre-mRNA at the 5′-ss, branch point sequence, polypyrimidine tract and 3′-ss: N, any nucleotide; R, purine (A or G); Y, pyrimidine (C or U). Exons are represented as solid boxes, while introns are depicted as lines. Spliceosome components involved in initial recognition of intron boundaries are shown bound to their target sequence on the pre-mRNA. Red stars mark splicing factors mutated in haematological malignancies