Abstract
Mutations in CCNO and MCIDAS lead to a mucociliary clearance disorder due to reduced generation of multiple motile cilia
Highlights
M Boon,Aff2 D Al Mutairi,Aff3 NT Loges,Aff1 L Ma,Aff4 C-T Chen,Aff4 H Olbrich,Aff1 P Pennekamp,Aff1 T Menchen,Aff1 G Dougherty,Aff1 C Werner,Aff1 M Jaspers,Aff5 M Griese,Aff6 E Horak,Aff7 C Körner-Rettberg,Aff8 S Schmitt-Grohé,Aff9 T Zimmermann,Aff10 A Hevroni,Aff11 R Abitbul,Aff12 A Avital,Aff11 R Soferman,Aff13 I Amirav,Aff12 H Mitchison,Aff14
Detailed analyses by immunofluorescence analysis (IF) in both man and Xenopus revealed that this reduction of cilia number was due to a centriole amplification defect in the acentriolar pathway, which is specific for multiciliated cells [1, 2]
IF showed that MCIDAS functions upstream of CCNO and FOXJ1, which is important for transcriptional control of axonemal motor proteins such as DNAH5 and CCDC39
Summary
M Boon,Aff2 D Al Mutairi,Aff3 NT Loges,Aff1 L Ma,Aff4 C-T Chen,Aff4 H Olbrich,Aff1 P Pennekamp,Aff1 T Menchen,Aff1 G Dougherty,Aff1 C Werner,Aff1 M Jaspers,Aff5 M Griese,Aff6 E Horak,Aff7 C Körner-Rettberg,Aff8 S Schmitt-Grohé,Aff9 T Zimmermann,Aff10 A Hevroni,Aff11 R Abitbul,Aff12 A Avital,Aff11 R Soferman,Aff13 I Amirav,Aff12 H Mitchison,Aff14. Molecular Medicine Unit, Birth Defects Research Centre, Institute of Child Health, University College London, London WC1N 1EH, UK
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