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Fig. 7 | Human Genomics

Fig. 7

From: A heterozygous mutation in UBE2H in a patient with developmental delay leads to an aberrant brain development in zebrafish

Fig. 7

A Threonine to Methionine mutation at the 150th amino acid of Ube2h disrupts regulation of p53-dependent apoptosis. A Induction of p53 expression in the ube2h morphant was recovered upon co-injection of WT ube2h mRNA with MO, but not upon co-injection of patient-mimicking ube2h variant mRNA with MO. B Representative confocal microscopy images of TUNEL staining in the brains of 24 hpf WT embryos injected with ube2h MO, ube2h MO with WT ube2h mRNA, and ube2h MO with patient-mimicking ube2h variant mRNA. C Quantification of the number of TUNEL-positive cells in the brains from B. All graphs represent mean ± S.E.M. of individual values. p values were calculated using an unpaired two-tailed Student’s t test. ***p < 0.001; **p < 0.01; n.s., not significantly different. Scale bar: 200 μm

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