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Fig. 3 | Skeletal Muscle

Fig. 3

From: Dnmt3b regulates DUX4 expression in a tissue-dependent manner in transgenic D4Z4 mice

Fig. 3

The Dnmt3bMommeD14 variant does not induce DUX4 expression or skeletal muscle pathology in D4Z4-2.5 mice. a Representative H&E-stained cross-sections of the quadriceps muscle (× 100 magnification) showed no skeletal muscle pathology in D4Z4-2.5 and D4Z4-2.5/Dnmt3bMommeD14 mice at 24 weeks of age. b DUX4 transcript levels in different skeletal muscles were low and not affected by the Dnmt3bMommeD14 variant at postnatal day 15. Statistical analysis was performed using a Student’s t test (quadriceps and tibialis anterior muscle) or a Mann-Whitney U test (gastrocnemius muscle). Each dot represents a single mouse, and the error bars denote the SEM from the biological replicates. n.s. = not significant. 2.5 = D4Z4-2.5; MD14 = Dnmt3bMommeD14. c Target gene expression of Wfdc3 showed a slight upregulation in the quadriceps muscle of D4Z4-2.5/Dnmt3bMommeD14 mice at postnatal day 15. Statistical analysis was performed using a Student’s t test (quadriceps and tibialis anterior muscle) or a Mann-Whitney U test (gastrocnemius muscle). Each dot represents a single mouse, and the error bar signifies the SEM from the biological replicates. *P < 0.05. n.s. = not significant. 2.5 = D4Z4-2.5; MD14 = Dnmt3bMommeD14. d DUX4 and Mef2c expression as measured by RT-qPCR in proliferating and differentiating muscle cells derived from the EDL muscle (postnatal day 15). The Dnmt3bMommeD14 variant does not affect the DUX4 expression in the EDL-derived muscle cells. Mef2c transcript levels were measured as a marker for differentiation toward myotubes. Per mouse, the ratio between proliferating versus differentiating cells is depicted. Each dot represents a single mouse, and the error bars denote the SEM from the biological replicates. Differences in DUX4 expression were tested using a Student’s t test. n.s. = not significant. 2.5 = D4Z4-2.5; MD14 = Dnmt3bMommeD14

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