Table S5: Summary of Ciliary Cross-Sections Examined
OLBRICH, Heike, et al. Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. The American Journal of Human Genetics, 2012, 91. Jg., Nr. 4, S. 672-684.
Publication: https://doi.org/10.1016/j.ajhg.2012.08.016
Description
Electron Microscopy TomographyImages were recorded at ×27,500 magnifications on a Teitz CCD camera with a 4096 by 4096 pixel resolution (0.441 and 0.321 pixels/nm respectively). The defocus was configured so that the first minimum in the Fourier transform fell at 1/5 nm. For image processing the dual-axis tilts series were aligned and back-projected to generate tomograms using IMOD. Central pairs were selected for sub- tomographic averaging. Using PEET, part of the IMOD package the regions selected were extracted, and compared using a rotational and translational search before combining to generate average densities. The data was rendered and visualised using UCSF Chimera. The tomograms contained multiple cilia, thus averaging was performed using six cross sections for each average.
Disclaimer
The publication Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry by Heike Olbrich, Miriam Schmidts, Claudius Werner, Alexandros Onoufriadis, Niki T.Loges, Johanna Raidt, Nora Fanni Banki, Amelia Shoemark, Tom Burgoyne, Saeed Al Turki, Matthew E.Hurles, UK10K Consortium, Gabriele Köhler, Josef Schroeder, Gudrun Nürnberg, Peter Nürnberg, Eddie M.K.Chung, Richard Reinhardt…Heymut Omran is published under an open access license: https://creativecommons.org/licenses/by/3.0/. Granted rights: share — copy and redistribute the material in any medium or format and adapt — remix, transform, and build upon the material for any purpose, even commercially.
Curation by the MFGA team
Pie chart of selected column
Table
CiliaryCross-section | _%OfCiliaryCross-sectionsExaminedOp-305Ii1 | _%OfCiliaryCross-sectionsExaminedOp-305Ii2 | _%OfCiliaryCross-sectionsExaminedUcl109ii_1 | _%OfCiliaryCross-sectionsUcl109Ii3 | _%OfCiliaryCross-sectionsExaminedUcl109Ii4 | _%OfCiliaryCross-sectionsExaminedControl(510Persons) |
---|---|---|---|---|---|---|
Normal 9+2 | 76.2 (n=250) | 38.5 (n=5) | 76.1 (n=249) | 91 (n=30) | 96 (n = 25) | 91+/-8 |
Disarranged Microtubules (7+2 | 8+2 | 8+0) | 5.5 (n = 18) | 23 (n = 3) | 8 (n = 26) | 3 (n = 1) |
Extra microtubule (9+3) | 1.8 (n = 6) | 0 | 3.4 (n = 11) | 3 (n = 1) | 0 | 1+/-2 |
Single microtubular doublet | 0.3 (n = 1) | 0 | 0.3 (n = 1) | 0 | 0 | >1+/-1 |
Transposition of central pair (8+1) | 1.8 (n = 6) | 7.7 (n = 1) | 0.3 (n = 1) | 0 | 0 | >1+/-1 |
One of pair missing (9+1) | 4.0 (n = 13) | 0 | 3 (n = 10) | 0 | 0 | 1+/-6 |
Central pair missing (9+0) | 10.1 (n = 33) | 30.8 (n = 4) | 8 (n = 26) | 3 (n = 1) | 0 | 2+/-3 |
Compound cilium | 0.3 (n = 1) | 0 | 0.9 (n = 3) | 0 | 0 | 1+/-1 |
Total amount of probes | n = 328 | n = 13 | n = 327 | n = 33 | n = 26 | approx 153.000 |