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. 2016 Oct 13;99(5):1086–1105. doi: 10.1016/j.ajhg.2016.09.005

Figure 7.

Figure 7

PYROXD1 Shows Nuclear-Cytoplasmic Localization in Zebrafish Myofibers, with Aggregates Induced by Expression of Asn155Ser and Gln372His Variants

(A) In situ hybridization on 24 hpf zebrafish shows widespread ryroxd1 expression including the trunk musculature (M) in both lateral and dorsal views.

(B–D) Immunolabeling of vibratome-sectioned embryos 4 days post fertilization (dpf) expressing eGFP-conjugated human PYROXD1, either wild-type (B), p.Asn155Ser (C; N155S), or p.Gln372His (D; Q372H) via a muscle-specific actin promoter (actc1b) together with the Z-disk marker Actinin3-mCherry or nuclear marker histone H2A-mCherry. PYROXD1 localizes to myonuclei and shows striated labeling of sarcomeres. Small regions of thickening and sarcomeric disruption (arrowheads and inset) were observed after heterologous expression of N155S- or Q372H-PYROXD1, but not with wild-type PYROXD1.