Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia

• Published in: Nature genetics Vol. 46; no. 6; pp. 646 - 651
• Main Authors: Wallmeier, Julia, Al-Mutairi, Dalal A, Chen, Chun-Ting, Loges, Niki Tomas, Pennekamp, Petra, Menchen, Tabea, Ma, Lina, Shamseldin, Hanan E, Olbrich, Heike, Dougherty, Gerard W, Werner, Claudius, Alsabah, Basel H, Köhler, Gabriele, Jaspers, Martine, Boon, Mieke, Griese, Matthias, Schmitt-Grohé, Sabina, Zimmermann, Theodor, Koerner-Rettberg, Cordula, Horak, Elisabeth, Kintner, Chris, Alkuraya, Fowzan S, Omran, Heymut
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.06.2014; Nature Publishing Group
• Subjects: 101/28; 38/1; 45/23; 64/114; 692/308/2056; 692/699/1785; Adolescent; Adult; Agriculture; Amino Acid Sequence; Animal Genetics and Genomics; Animals; Biomedicine; Biopsy; Cancer Research; Cell Movement; Centrioles - metabolism; Child; Child, Preschool; Cilia - metabolism; Cystic fibrosis; Cytoplasm - metabolism; Defects; Development and progression; DNA Glycosylases - genetics; Experiments; Female; Gene Function; Gene mutations; Genetic aspects; Genomes; Human Genetics; Humans; Identification and classification; Kartagener Syndrome - genetics; letter; Lung diseases; Male; Mice; Microscopy; Models, Genetic; Molecular Sequence Data; Mucociliary Clearance - genetics; Mucociliary system; Mutation; Pedigree; Proteins; Sequence Analysis, DNA; Sequence Homology, Amino Acid; Studies; Xenopus; Xenopus laevis

Heymut Omran and colleagues show that biallelic mutations in CCNO cause a chronic destructive lung disease resulting from loss of multiple motile cilia from the surface of respiratory epithelial cells. Subcellular analyses suggest that CCNO deficiency leads to defective centriole amplification and m...