Genomic aberrations leading to gene fusions. (A) Evidence for copy number breakpoints inside RECK and ALX3 from Affymetrix SNP 6.0 microarrays. Raw probe signals were normalized (spots) and segmented (lines) as described in Methods. Exons in red represent those occurring in the RECK-ALX3 fusion transcript. (B) FISH in short-term culture M000921 at the RECK and ALX3 loci. Probes positioned 100–200 kb on both sides of each gene reveal amplifications 5′ of RECK and 3′ of ALX3. (C) Amplification involving ITM2B and RB1 on chromosome 13. A tandem duplication would position exon 2 of RB1 upstream of exon 3 of ITM2B (red), as observed in the fusion transcript. (D) Amplification involving C5orf32, ANKHD1, and intervening genes. A tandem duplication would position exon 1 of ANKHD1 upstream of exon 3 of C5orf32 (red), as observed in the fusion transcript.
