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. 2018 Nov 21;103(6):995–1008. doi: 10.1016/j.ajhg.2018.10.020

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© 2018 The Author(s)

This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

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DNAH9 Mutant Cilia Disrupt ODA Type 2 Complexes in the Distal Compartment of Respiratory Cilia

(A) In contrast to healthy control subjects, DNAH9 (red) is absent or severely reduced in the distal compartment of DNAH9 mutant cilia. Ciliary axonemes are counterstained with anti-acetylated tubulin (green). Schematic (right side) highlights loss of DNAH9 (red) in the distal compartment of respiratory cilia.

(B) In contrast to healthy control subjects, DNAH5 (green) is absent or severely reduced in the distal compartment of DNAH9 mutant cilia. DNAH5 retains localization in the proximal compartment of DNAH9 mutant cilia. The ODA docking complex protein CCDC114 (red) localizes along the entire ciliary axoneme in both control and DNAH9 mutant cilia. Schematic (right side) highlights loss of DNAH5 (green) in the distal compartment of respiratory cilia. Nuclei are stained with Hoechst33342 (blue). Scale bars represent 10 μm. For each individual, 15–20 cells were analyzed from two independent IF experiments.