Xenbase Image ID: 180272

Figure 7. Injection of wild-type EMC1 mRNA and to a lesser extent p.Gly471Arg (c.1411G>C) variant mRNA restored sox10 expression and tadpole movement in emc1-depleted embryos, whereas the mRNA of all other variants did not. (A) Representative images and percentages of embryos with sox10 expression after injection with emc1 MO at the 1-cell stage followed by injection with wild-type (n = 31) or variant EMC1 mRNA (n = 31 for Y23*, 29 for T82M, 20 for R105*, 31 for A144T, 30 for R404*, 29 for G471R, 28 for G868R, 25 for P874Rfs, and 31 for R881C) in 1 cell of the 2-cell stage over 3 biological replicates (injected halves of embryos are indicated by asterisks). Scale bar: 500 μm. (B) Schematic diagram of EMC1 protein with domain annotations and locations and effects of patient variants. CHD, congenital heart disease; GDD, global developmental delay; VIS, vision impairment; PQQ2, pyrrolo-quinoline quinone redox coenzyme domain; DUF, domain of unknown function. (C) Measurement of tadpole motility after coinjection with emc1 MO and wild-type (n = 15) or variant EMC1 mRNA (n = 15 for Y23*, 15 for T82M, 9 for R105*, 9 for A144T, 9 for R404*, 8 for G471R, 10 for G868R, 16 for P874Rfs, and 12 for R881C) at the 1 cell stage over 3 biological replicates. ANOVA P values were calculated as a comparison of mock injection to all other groups (A) and MO only to all other groups (C). ****P < 0.0001, **P < 0.005, *P < 0.05 by post hoc Tukey’s test of multiple comparisons of mock injection to all other groups (A) and MO only to all other emc1 MO-injected groups (C). Bars indicate mean and SD. Image published in: Marquez J et al. (2020) Copyright © 2020. This image is reproduced with permission of the publisher and the copyright holder. This is an Open Access article distributed under the terms of the Creative Commons Attribution License. Larger Image Printer Friendly View

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