Figure 3.

Axonemal Localization of TTC25

(A) In respiratory cells obtained from a healthy control individual, TTC25 (red) localizes throughout the ciliary axoneme, which is marked by acetylated tubulin (green). This co-localization is represented by yellow in the merged image.

(B–D) TTC25 is absent in respiratory cells from individuals harboring recessive loss-of-function TTC25 mutations. Absence of TTC25 protein localization in the affected individuals OP-95 II2 (B), OP-1331 II1 (C), and OP-1331 II3 (D) is consistent with the detected loss-of-function mutations (c.114+1G>T and c.425_426insT) and confirms specificity of the polyclonal anti-TTC25 antibody (Abcam, ab157630, 1:500). The nucleus (blue) was stained with Hoechst33342 (Sigma, 14533-100MG, 1:1000).

Scale bars represent 10 μm.