Figure 4

MYB-NSHL1 fusion gene in SDC. (A) Representation of DNA rearrangements in MYB-NHSL1 fusion SDC samples. MYB and NHSL1 genes are located in the same chromosome 6, separated by around 3.2 megabase. The complex genomic DNA rearrangement event involving chromosome 6 relocates MYB and MHSL1 gene in reverse orientation, producing the MYB-NHSL1 fusion gene. (B) MYB-NHSL1 fusion identified from RNA-sequencing. 60 split-reads that span the MYB-NHSL1 junction are depicted. (C) MYB-NHSL1 rearrangement-specific PCR reaction from genomic DNA derived from SDC patients. Sequencing chromatogram of a patient spanning the fusion junction. Sample 1 is the SDC sample harboring MYB-NSHL1 and sample 2 is a control SDC sample.