Figure 4.

In C11orf70-Mutant Respiratory Cilia the IDA Light Chain DNALI1 (IDA-group I2) as Well as the IDA Heavy Chain DNAH6 (IDA-group I3) Are Absent

(A) Schematic of the arrangement of ODAs (blue) and IDAs (green) within the 96 nm unit in the human ciliary axoneme. IDA complexes a, c, and d belong to the IDA group I2, characterized by the presence of the dynein light chain DNALI1 (red lines). IDA complex g contains the dynein heavy chain DNAH6 (yellow circle) and belongs to the IDA group I3.

(B and C) Respiratory cilia double labeled with antibodies directed against acetylated α-tubulin (green) and DNALI1 (red) show colocalization of DNALI1 with acetylated α-tubulin along the cilia from unaffected controls (B, yellow). In contrast, DNALI1 is absent or severely reduced in C11orf70-mutant axonemes (C, OP-1416 II1). Please note that the red signal at the ciliary base in (C) is an unspecific additional staining caused by rabbit polyclonal antibodies (see References⁵⁵ for further details).

(D and E) Respiratory epithelial cells from control and PCD-affected individuals were double labeled with antibodies directed against acetylated α-tubulin (green) and DNAH6 (red). DNAH6 colocalizes with acetylated tubulin along the cilia from unaffected controls (D, yellow). In contrast, DNAH6 is absent or severely reduced in C11orf70-mutant axonemes (E, OP-1416 II1). Nuclei were stained with Hoechst33342 (blue). Scale bars represent 10 μm.