Steven L Brody, Jiehong Pan, Tao Huang, Jian Xu, Huihui Xu, Jeffrey Koenitizer, Steven K Brennan, Rashmi Nanjundappa, Thomas G Saba, Andrew Berical, Finn J Hawkins, Xiangli Wang, Rui Zhang, Moe R Mahjoub, Amjad Horani, Susan K Dutcher
Motile cilia have essential cellular functions in development, reproduction, and homeostasis. Genetic causes for motile ciliopathies have been identified, but the consequences on cellular functions beyond impaired motility remain unknown. Variants in CCDC39 and CCDC40 cause severe disease not explained by loss of motility. Using human cells with pathological variants in these genes, Chlamydomonas genetics, cryo-electron microscopy, single cell RNA transcriptomics, and proteomics, we identified perturbations in multiple cilia-independent pathways...
March 21, 2024: bioRxiv