Fig. 3: CRTC1-MAML2 fusion gene identified in a breast mucoepidermoid carcinoma. | npj Breast Cancer

Fig. 3: CRTC1-MAML2 fusion gene identified in a breast mucoepidermoid carcinoma.

From: Pleomorphic adenomas and mucoepidermoid carcinomas of the breast are underpinned by fusion genes

Fig. 3

a Schematic representation of the CRTC1-MAML2 fusion transcript detected in the breast mucoepidermoid carcinoma BMEC2 by RNA sequencing, depicting the exons and protein domains involved (top). Vertical lines show the breakpoints of CRTC1 and MAML2. The spanning reads found to cross the genomic breakpoint of the CRTC1-MAML2 chimeric transcript are shown aligned to the predicted junction sequence (bottom). b Representative Sanger sequencing electropherogram of cDNA validating the CRTC1-MAML2 fusion junction in BMEC2. c Schematic representation showing the reads per kilobase per million (RPKM) mapped read counts of each MAML2 exon. The MAML2 fusion breakpoint is represented as a red dashed line. d Representative photomicrographs of a hematoxylin and eosin-stained section (left) and fluorescence in situ hybridization using three-color break-apart probes (green, CRTC1; 5′ MAML2, red; 3′ MAML2, orange; right) of BMEC2. Scale bar, 20 μm (d). AcD acidic domain, BD basic domain, CBD CREB-binding domain, NES nuclear export signal, NLS nuclear localization signal, SD splicing domain, TAD transactivation domain.

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