Fig. 3

Fusion of EP300 (located at 22q13) with both CHD4 and ZNF384 (at 12p13). a Sanger sequencing data confirmed two novel fusion transcripts involving EP300 gene, involving CHD4 (exon 2) with EP300 (exon 2) and EP300 (exon 6) with ZNF384 (exon 3). b Fusion of EP300 (located at 22q13) with both CHD4 and ZNF384 (at 12p13) appears to have resulted from a complex series of genomic rearrangements as shown by chromosome painting (left homologues) and FISH (right) using tilepath BAC and fosmid clones (upper panel). Note the presence of two discrete regions of chr. 12-derived material on the der(22) implying a complex, possibly insertional, event. This picture is supported by FISH revealing interspersal of chr. 12- and 22-derived BAC clones over circa 9 MBp from 12p13 (lower panel). FISH revealed breakpoints within RP11-1137p19 and 1078o11 involving the ZNF384/CHD4 and EP300 regions implicated in fusion events