Figure 1.
Cytogenetic, FISH, and PCR analyses of the erythroid leukemia.
A) Partial G-banded karyotype showing what appeared to be chromosome aberrations der(11)t(11;20)(p11;q13) and der(20)t(11;20)(p11;q13) together with their corresponding normal homologues; breakpoint positions are indicated by arrows. B) FISH using BAC RP11-702E03 (red signal) from 20q13 containing the ZMYND8 gene and BAC CTD-2382C11 (green signal) for RELA. A part of the probe RP11-702E03 for ZMYND8 as well as the entire probe CTD-2382C11 for RELA had moved to band p12 of the derivative chromosome 11. The data suggest that the functional fusion gene is generated on the der(11). C) G-banding of the metaphase spread shown in (B). D) Mapping position of the RP11-702E03 on chromosome band 20q13 and CTD-2382C11 on chromosome band 11q13. E) Amplification of ZMYND8-RELA fusion cDNA fragments using ZMYND8-2683F and RELA-516R primer sets (lane 1) and ZMYND8-3079F and RELA-516R primers (lane 2). M, 1 Kb DNA ladder. F) Partial sequence chromatogram showing the junctions of the ZMYND8-RELA chimeric transcript and part of the in-frame coding protein.
Figure 2.
FISH using the BACs RP11-357P03 (FITC, green), RP11-365J23 (Texas Red, red) and RP11-701A18 (Spectrum Gold, yellow) for the localization of the fusion ZMYND8-RELA gene.
A) The BACs RP11-357P03 (FITC) and RP11-365J23 (Texas Red) have moved to the q arm of der(20), whereas the probe RP11-701A18 (Spectrum Gold) had moved to the q arm of the derivative chromosome 11. B) Mapping position of the RP11-357P03, RP11-365J23 and RP11-701A18 in chromosome band 11p12. The localization of the fusion ZMYND8-RELA gene is between BACs RP11-365J23 and RP11-701A18.
Figure 3.
Diagram showing the domains of ZMYND8, RELA and the fusion ZMYND8-RELA protein.