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Fig. 3 | Human Genomics

Fig. 3

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

Fig. 3

Ube2h is required for normal brain development. A Comparison of the amino sequences between human UBE2H and zebrafish Ube2h. The conserved sequences have been marked using an asterisk (*), while semi-conserved sequences have been marked using a colon (:). Thr150, where a missense mutation was found in the patient (Thr150Met), has been indicated in red. B Representative dorsal and lateral view images of ube2h WISH in the anterior region, at 24 or 48 hpf. ube2h is expressed in the anterior region, broadly including forebrain (fb), midbrain (mb), and hindbrain (hb). C Dorsal view of anterior region of ube2h morphant, ube2h morphant with ube2h mRNA injection and uninjected controls. The white dotted area indicates the brain tissue including forebrain and midbrain. D Quantification of the brain size from the dotted area in C. The graph represents mean ± S.E.M. of individual values. p values were calculated using an unpaired two-tailed Student’s t test. ***p < 0.001; *p < 0.05; and n.s., not significantly different. Scale bar: 200 μm

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