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Figure 2 | BMC Medical Genetics

Figure 2

From: Missense mutations in Desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro

Figure 2

Transfection studies in cultured neonatal rat cardiomyocytes (top panels) and HL-1 cells (bottom panels). Note the WT-DSC2a-GFP was localised at the cell membrane between two cardiomyocytes and HL-1 cells (panel A and D), whereas E102K and I345T-DSC2a-GFP were mainly detected in the cytoplasm (panel B, C, E and F). As a reference, in cardiomyocytes immunostaining of the same cells with a monoclonal anti-alpha-actinin (panel A', B' and C') and overlay of the DSC2a-GFP and alpha-actinin staining (panel A", B" and C") are shown. In HL-1 cells immunostaining with monoclonal desmoglein antibody DG 3.10 showed both the presence of well-assembled desmosomes (panel D', E' and F') and the reduced co-localisation between endogenous dsg and mutated DSC2 (yellow dots in panel E", F").

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BMC Medical Genetics

ISSN: 1471-2350

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