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Figure 2 | Molecular Cytogenetics

Figure 2

From: 5‘RUNX1-3’USP42 chimeric gene in acute myeloid leukemia can occur through an insertion mechanism rather than translocation and may be mediated by genomic segmental duplications

Figure 2

Schematic diagram of SDs7/21 and SDs21/7 mediating the chromosomes 7 and 21 rearrangement. (A) SDs7/21 and SDs21/7 distribution along the p and q arms, respectively; SDs located next to USP42 and RUNX1 genes are indicated by square boxes; (B) Detailed genomic organization of SDs7/21 (green) and SDs21/7 (red) adjacent to the USP42 and RUNX1 genes is reported. The ends of the segments that constitute each duplication are indicated by capital letters whereas the horizontal black line represents not duplicated genomic regions. The size of each segment and of single copy sequences is reported in Kb. (C) Hypothetical mechanism at the basis of the 5‘RUNX1-3’USP42 fusion gene generation. The two SDs blocks, SDs7/21 (A-H, in green) and SDs21/7 (A’-H’, in red), promote the approach of chromosomes 7 and 21 and mediate the rearrangement (translocation/insertion) generating the 5‘RUNX1-3’USP42 chimeric gene.

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