Fig. 2.

Functional significance of the CYP26C1 missense variants identified in zebrafish embryos. a Wild-type embryos injected with sense-capped RNA coding for human CYP26C1 wild type or the variants identified in families 1–3, p.(Pro50Ser) (family 1), p.(Ala304Thr) (family 2), p.(Gln119Pro) (family 3). The common missense variant p.(Arg245Gln) was used as control. a (left) Dorsal views of the embryos at 55 h post fertilization (hpf). Embryos injected with CYP26C1 wild-type RNA displayed absent pectoral fins (non-injected = 118; WT = 123; p.(Pro50Ser) = 90; p.(Ala304Thr) = 90; p.(Gln119Pro) = 57; p.(Arg245Gln) = 37). Arrows indicate pectoral fin. a (right) Magnification on the pectoral fins of col2a1 expression at 55 hpf. b Pectoral fin area was measured by ImageJ. The box represents the interquartile range. The whiskers represent Min to Max. ****P-value < 0.0001; two-way ANOVA. Dotted line pectoral fin