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. 2017 Feb 8;8:14279. doi: 10.1038/ncomms14279

Figure 2. PIH1D3 mutations result in non-assembly and loss of IDAs and ODAs in respiratory cilia axonemes.

Figure 2

(a) TEM showing the cross-section arrangement of cilia from a healthy control (right) and an image (left) of the main structures of the 9+2 motile axoneme including the outer (ODA) and inner (IDA) dynein arms (red arrowheads). (b) TEM of PIH1D3-mutant cilia from nasal respiratory epithelial cells of affected individuals display a reduction and loss of both the ODAs and IDAs. All cases show a combined loss of ODAs and IDAs but this defect can be variable and in particular mutations p.Glu43* (p.E43*, in PCD12 II:1) and p.Trp89* (p.W89*, in PCD392 II:1) are associated with some visible retention of the arms, in particular the outer (PCD12) or inner (PCD392) dynein arms (red arrowheads). In comparison, all other mutations result in the majority of cross-sections showing complete loss of both ODAs and IDAs. These images represent TEM data surveys from a minimum of 300 cross-sections per patient sample.