Figure 3.

Characterization of RUNX1 mutations in CMML patients. A: Genomic organization of RUNX1 gene at 21q22.12 and RUNX1 protein. Functional (i.e. RUNT and RUNXI [for RUNX Inhibitor domain], as defined by PFAM accession numbers PF00853 and PF08504, respectively) and motifs of the RUNX1 protein were positioned according to the SMART program webcite. Nucleotide (cDNA level) and deduced aminoacid sequences of the RUNX1 protein are positioned above and below the corresponding protein, respectively. The genomic RUNX1 sequence of CMML 5 exhibited a mutation in the consensus splicing sequence of intron 3. B: Mutations of RUNX1. All mutations but one introduced an aberrant stop codon (cases 3, 6, 12, 15 and 87). Two missense mutations (cases 1 and 25) were also observed. The mutations are located with respect to the modified aminoacid of the RUNX1 protein. C: Representation of putative mutated RUNX1 proteins. According to the SMART program, all putative modified proteins have lost their RUNT and RUNXI domains.

Gelsi-Boyer et al. BMC Cancer 2008 8:299   doi:10.1186/1471-2407-8-299
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