Supplementary Figure 2: Structural rearrangements of the regions immediately upstream of GRM1 detected by FISH.
From: GRM1 is upregulated through gene fusion and promoter swapping in chondromyxoid fibroma
Probes mapping to sequences within (red) and upstream of (green) the GRM1 gene were used to detect rearrangement of the GRM1 promoter region. In five investigated cases (cases 2, 5, 7, 8 and 17), split signals were found in more than 20% (range of 31–79%) of the analyzed nuclei. In an additional five cases (cases 4 and 18–21), split signals could not be confirmed in more than 20% of the analyzed nuclei. In case 4, which was negative in FISH analysis, rearrangement of the GRM1 promoter was detected by both DNA mate-pair sequencing and SNP array analyses. Thus, the relatively low resolution of interphase FISH analysis precludes the detection of GRM1 promoter rearrangement in cases with complex genomic aberrations, involving, for example, loss of segments upstream of GRM1.
