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. Author manuscript; available in PMC: 2022 Mar 30.
Published in final edited form as: Circulation. 2021 Jan 22;143(13):1302–1316. doi: 10.1161/CIRCULATIONAHA.120.050432

Figure 6. Deletion of the C6 enhancer region alters MYH6/7 expression.

Figure 6.

A. Schematic demonstrating the location of the MYH6/7-C6 enhancer region; the position of rs875908 is indicated. B. IPSC-CM MYH6 and MYH7 expression levels in cells deleted heterozygously or homozygously for the C6 enhancer region containing rs875908. MYH6/7 levels were assayed by qPCR, and showed a dose-dependent reduction in MYH7 expression. Therefore, rs875908, is within an enhancer region required for strong MYH7 expression in human cardiomyocyte like cells (unedited n=16, MYH7-C6+/− n=11, MYH7-C6−/− n=6). C. SDS-PAGE analysis of myosin heavy chain protein (MHC) isoforms in MYH7-C6 +/− and −/− cells. D. Quantitation of α-MHC/β-MHC ratios indicates that RNA differences correlate with changes in protein level. Significance determined by one-way ANOVA with Dunnett’s multiple comparisons correction. *<0.03, ****<0.0001.