Fig. 6: Structures of DMTs from individuals with PCD.
From: Axonemal structures reveal mechanoregulatory and disease mechanisms
a, Beating amplitude is plotted against ciliary beat frequency (CBF) for primary brushing samples from human nasal epithelia for 11 people without PCD and patients with PCD carrying biallelic ODAD1 (splice site (s) and nonsense (n)), CCDC39 and CCDC40 mutations. b, Schematic models of the corresponding ciliary waveforms observed in primary nasal brushings of patients with PCD and people without PCD (control). c, Cross-section of the atomic model of the human 96-nm DMT repeat depicting the position of ODAD1 and the CCDC39/40 coiled coil. The proteins are coloured according to their periodicity in the axoneme. d,e, Cross and longitudinal sections through cryo-EM maps reconstructed from DMTs isolated from pseudostratified respiratory epithelia cultured from either a healthy individual (control) or nasal brushings from patients with PCD. Map densities are coloured according to the repeat length with tubulin shown in grey. d, Mutations in ODAD1 cause complete loss of the ODA-DC (green), which repeats with 24-nm periodicity. e, Mutations in CCDC39 and CCDC40 cause complete loss of the 96-nm repeat (mauve). Apart from tektins, which had reduced occupancy, most MIPs (blue) are unaffected. Control maps are reconstructed from similar numbers of particles at a similar resolution and periodicity to the mutant maps for direct comparison.
