Fig. 3: Common breakpoints of DUX4 rearrangements in cancer.
From: DUX4-rearranged B-ALL: deciphering a biological and clinical conundrum
Breakpoints of CIC-rearranged sarcoma (A) and DUX4 rearrangements identified in DUX4-r B-ALL (B). Translocation of DUX4 sequence is represented by red arrows in both diagrams. In B-ALL, breakpoints at DUX4 loci occur in the TAD, giving rise to proteins in which the TAD is truncated. Enhancer (Eμ at IGH) or promotor (likely P3 at ERG) regions are ‘hijacked’ to induce aberrant DUX4 expression in B cell precursors. In CIC-rearranged sarcoma, only the DUX4 TAD is translocated, fusing with the final exons of CIC or ATXN1, resulting in a chimeric protein that activates typically repressed CIC target genes in soft tissue of the central nervous system. Base pair coordinates were extracted from human genome build hg38. Created in BioRender. Ryan, S. (2025) https://BioRender.com/1pqisgg.
