Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia
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...
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Published in | Nature genetics Vol. 46; no. 6; pp. 646 - 651 |
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Main Authors | , , , , , , , , , , , , , , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
New York
Nature Publishing Group US
01.06.2014
Nature Publishing Group |
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Abstract | 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 migration, leading to reduced ciliogenesis.
Using a whole-exome sequencing strategy, we identified recessive
CCNO
(encoding cyclin O) mutations in 16 individuals suffering from chronic destructive lung disease due to insufficient airway clearance. Respiratory epithelial cells showed a marked reduction in the number of multiple motile cilia (MMC) covering the cell surface. The few residual cilia that correctly expressed axonemal motor proteins were motile and did not exhibit obvious beating defects. Careful subcellular analyses as well as
in vitro
ciliogenesis experiments in
CCNO
-mutant cells showed defective mother centriole generation and placement. Morpholino-based knockdown of the
Xenopus
ortholog of
CCNO
also resulted in reduced MMC and centriole numbers in embryonic epidermal cells.
CCNO
is expressed in the apical cytoplasm of multiciliated cells and acts downstream of multicilin, which governs the generation of multiciliated cells. To our knowledge,
CCNO
is the first reported gene linking an inherited human disease to reduced MMC generation due to a defect in centriole amplification and migration. |
---|---|
AbstractList | 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 migration, leading to reduced ciliogenesis.
Using a whole-exome sequencing strategy, we identified recessive
CCNO
(encoding cyclin O) mutations in 16 individuals suffering from chronic destructive lung disease due to insufficient airway clearance. Respiratory epithelial cells showed a marked reduction in the number of multiple motile cilia (MMC) covering the cell surface. The few residual cilia that correctly expressed axonemal motor proteins were motile and did not exhibit obvious beating defects. Careful subcellular analyses as well as
in vitro
ciliogenesis experiments in
CCNO
-mutant cells showed defective mother centriole generation and placement. Morpholino-based knockdown of the
Xenopus
ortholog of
CCNO
also resulted in reduced MMC and centriole numbers in embryonic epidermal cells.
CCNO
is expressed in the apical cytoplasm of multiciliated cells and acts downstream of multicilin, which governs the generation of multiciliated cells. To our knowledge,
CCNO
is the first reported gene linking an inherited human disease to reduced MMC generation due to a defect in centriole amplification and migration. Using a whole-exome sequencing strategy, we identified recessive CCNO (encoding cyclin O) mutations in 16 individuals suffering from chronic destructive lung disease due to insufficient airway clearance. Respiratory epithelial cells showed a marked reduction in the number of multiple motile cilia (MMC) covering the cell surface. The few residual cilia that correctly expressed axonemal motor proteins were motile and did not exhibit obvious beating defects. Careful subcellular analyses as well as in vitro ciliogenesis experiments in CCNO-mutant cells showed defective mother centriole generation and placement. Morpholino-based knockdown of the Xenopus ortholog of CCNO also resulted in reduced MMC and centriole numbers in embryonic epidermal cells. CCNO is expressed in the apical cytoplasm of multiciliated cells and acts downstream of multicilin, which governs the generation of multiciliated cells. To our knowledge, CCNO is the first reported gene linking an inherited human disease to reduced MMC generation due to a defect in centriole amplification and migration. |
Audience | Academic |
Author | Omran, Heymut Olbrich, Heike Schmitt-Grohé, Sabina Chen, Chun-Ting Menchen, Tabea Alkuraya, Fowzan S Ma, Lina Werner, Claudius Horak, Elisabeth Griese, Matthias Alsabah, Basel H Dougherty, Gerard W Boon, Mieke Wallmeier, Julia Zimmermann, Theodor Pennekamp, Petra Jaspers, Martine Kintner, Chris Köhler, Gabriele Koerner-Rettberg, Cordula Al-Mutairi, Dalal A Loges, Niki Tomas Shamseldin, Hanan E |
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BackLink | https://www.ncbi.nlm.nih.gov/pubmed/24747639$$D View this record in MEDLINE/PubMed |
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Cites_doi | 10.1371/journal.pone.0041077 10.1038/ng.2707 10.4161/cc.10.17.17181 10.1083/jcb.201202126 10.1242/dev.096727 10.1203/01.pdr.0000200809.21364.e2 10.1242/dev.094102 10.1016/j.devcel.2013.08.021 10.1038/ncb2241 10.1242/dev.029249 10.1038/ng817 10.1038/ncb2880 10.1016/S0092-8674(00)81705-5 10.1002/ppul.1950130416 10.1038/ng.726 10.1038/ncb2406 10.1038/nature07471 10.1242/dev.034884 10.1101/gad.8.12.1434 10.1002/dvg.20824 10.1038/ng.267 10.1038/nature11632 10.1242/jcs.3.2.207 10.1038/nrm2278 |
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References | Merveille (CR4) 2011; 43 Olbrich (CR21) 2006; 59 Schmidt (CR7) 2012; 199 Fliegauf, Benzing, Omran (CR1) 2007; 8 Klos Dehring (CR15) 2013; 27 Tarkar (CR20) 2013; 45 Lizé, Klimke, Dobbelstein (CR9) 2011; 10 Sorokin (CR6) 1968; 3 Tsao (CR12) 2009; 136 Steere (CR13) 2012; 7 DeBoeck (CR18) 1992; 13 Stubbs, Oishi, Izpisua Belmonte, Kintner (CR14) 2008; 40 CR2 Werner, Mitchell (CR19) 2012; 50 Turner, Weintraub (CR23) 1994; 8 Olbrich (CR3) 2002; 30 Stubbs, Vladar, Axelrod, Kintner (CR8) 2012; 14 CR24 Marcet (CR10) 2011; 13 Omran (CR22) 2008; 456 Tan (CR17) 2013; 140 Guseh (CR11) 2009; 136 Zhao (CR16) 2013; 15 Nonaka (CR5) 1998; 95 Chien (CR25) 2013; 140 19011629 - Nat Genet. 2008 Dec;40(12):1454-60 16492982 - Pediatr Res. 2006 Mar;59(3):418-22 7926743 - Genes Dev. 1994 Jun 15;8(12):1434-47 21131972 - Nat Genet. 2011 Jan;43(1):72-8 11788826 - Nat Genet. 2002 Feb;30(2):143-4 1523039 - Pediatr Pulmonol. 1992 Aug;13(4):259-65 9865700 - Cell. 1998 Dec 11;95(6):829-37 23872636 - Nat Genet. 2013 Sep;45(9):995-1003 17955020 - Nat Rev Mol Cell Biol. 2007 Nov;8(11):880-93 23900544 - Development. 2013 Aug;140(16):3468-77 22231168 - Nat Cell Biol. 2012 Jan 08;14(2):140-7 21857159 - Cell Cycle. 2011 Sep 1;10(17):2874-82 23253480 - J Cell Biol. 2012 Dec 24;199(7):1083-101 21602795 - Nat Cell Biol. 2011 Jun;13(6):693-9 22083727 - Genesis. 2012 Mar;50(3):176-85 24048590 - Development. 2013 Oct;140(20):4277-86 22911743 - PLoS One. 2012;7(7):e41077 24075808 - Dev Cell. 2013 Oct 14;27(1):103-12 19052621 - Nature. 2008 Dec 4;456(7222):611-6 23128226 - Nature. 2012 Nov 1;491(7422):56-65 19502490 - Development. 2009 Jul;136(13):2297-307 5661997 - J Cell Sci. 1968 Jun;3(2):207-30 19369400 - Development. 2009 May;136(10):1751-9 24240477 - Nat Cell Biol. 2013 Dec;15(12):1434-44 ME Werner (BFng2961_CR19) 2012; 50 JL Stubbs (BFng2961_CR8) 2012; 14 H Olbrich (BFng2961_CR3) 2002; 30 BFng2961_CR24 N Steere (BFng2961_CR13) 2012; 7 DL Turner (BFng2961_CR23) 1994; 8 YH Chien (BFng2961_CR25) 2013; 140 H Omran (BFng2961_CR22) 2008; 456 S Nonaka (BFng2961_CR5) 1998; 95 BFng2961_CR2 FE Tan (BFng2961_CR17) 2013; 140 JL Stubbs (BFng2961_CR14) 2008; 40 SP Sorokin (BFng2961_CR6) 1968; 3 B Marcet (BFng2961_CR10) 2011; 13 PN Tsao (BFng2961_CR12) 2009; 136 JS Guseh (BFng2961_CR11) 2009; 136 K DeBoeck (BFng2961_CR18) 1992; 13 A Tarkar (BFng2961_CR20) 2013; 45 H Olbrich (BFng2961_CR21) 2006; 59 M Fliegauf (BFng2961_CR1) 2007; 8 M Lizé (BFng2961_CR9) 2011; 10 DA Klos Dehring (BFng2961_CR15) 2013; 27 AC Merveille (BFng2961_CR4) 2011; 43 H Zhao (BFng2961_CR16) 2013; 15 KN Schmidt (BFng2961_CR7) 2012; 199 |
References_xml | – volume: 7 start-page: e41077 year: 2012 ident: CR13 article-title: Wnt/β-catenin pathway antagonist Chibby binds Cenexin at the distal end of mother centrioles and functions in primary cilia formation publication-title: PLoS ONE doi: 10.1371/journal.pone.0041077 contributor: fullname: Steere – volume: 45 start-page: 995 year: 2013 end-page: 1003 ident: CR20 article-title: DYX1C1 is required for axonemal dynein assembly and ciliary motility publication-title: Nat. Genet. doi: 10.1038/ng.2707 contributor: fullname: Tarkar – volume: 10 start-page: 2874 year: 2011 end-page: 2882 ident: CR9 article-title: MicroRNA-449 in cell fate determination publication-title: Cell Cycle doi: 10.4161/cc.10.17.17181 contributor: fullname: Dobbelstein – ident: CR2 – volume: 3 start-page: 207 year: 1968 end-page: 230 ident: CR6 article-title: Reconstructions of centriole formation and ciliogenesis in mammalian lungs publication-title: J. Cell Sci. contributor: fullname: Sorokin – volume: 199 start-page: 1083 year: 2012 end-page: 1101 ident: CR7 article-title: Cep164 mediated vesicular docking to the mother centriole during early steps of ciliogenesis publication-title: J. Cell Biol. doi: 10.1083/jcb.201202126 contributor: fullname: Schmidt – volume: 140 start-page: 3468 year: 2013 end-page: 3477 ident: CR25 article-title: Bbof1 is required to maintain cilia orientation publication-title: Development doi: 10.1242/dev.096727 contributor: fullname: Chien – volume: 59 start-page: 418 year: 2006 end-page: 422 ident: CR21 article-title: Axonemal localization of the dynein component DNAH5 is not altered in secondary ciliary dyskinesia publication-title: Pediatr. Res. doi: 10.1203/01.pdr.0000200809.21364.e2 contributor: fullname: Olbrich – volume: 140 start-page: 4277 year: 2013 end-page: 4286 ident: CR17 article-title: Myb promotes centriole amplification and later steps of the multiciliogenesis program publication-title: Development doi: 10.1242/dev.094102 contributor: fullname: Tan – volume: 27 start-page: 103 year: 2013 end-page: 112 ident: CR15 article-title: Deuterosome-mediated centriole biogenesis publication-title: Dev. Cell doi: 10.1016/j.devcel.2013.08.021 contributor: fullname: Klos Dehring – volume: 13 start-page: 693 year: 2011 end-page: 699 ident: CR10 article-title: Control of vertebrate multiciliogenesis by miR-449 through direct repression of the Delta/Notch pathway publication-title: Nat. Cell Biol. doi: 10.1038/ncb2241 contributor: fullname: Marcet – volume: 136 start-page: 1751 year: 2009 end-page: 1759 ident: CR11 article-title: Notch signaling promotes airway mucous metaplasia and inhibits alveolar development publication-title: Development doi: 10.1242/dev.029249 contributor: fullname: Guseh – volume: 30 start-page: 143 year: 2002 end-page: 144 ident: CR3 article-title: Mutations cause primary ciliary dyskinesia and randomization of left-right asymmetry publication-title: Nat. Genet. doi: 10.1038/ng817 contributor: fullname: Olbrich – volume: 15 start-page: 1434 year: 2013 end-page: 1444 ident: CR16 article-title: The Cep63 paralogue Deup1 enables massive centriole biogenesis for vertebrate multiciliogenesis publication-title: Nat. Cell Biol. doi: 10.1038/ncb2880 contributor: fullname: Zhao – volume: 95 start-page: 829 year: 1998 end-page: 837 ident: CR5 article-title: Randomization of left-right body asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3b motor protein publication-title: Cell doi: 10.1016/S0092-8674(00)81705-5 contributor: fullname: Nonaka – volume: 13 start-page: 259 year: 1992 end-page: 265 ident: CR18 article-title: Aplasia of respiratory tract cilia publication-title: Pediatr. Pulmonol. doi: 10.1002/ppul.1950130416 contributor: fullname: DeBoeck – volume: 43 start-page: 72 year: 2011 end-page: 78 ident: CR4 article-title: CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs publication-title: Nat. Genet. doi: 10.1038/ng.726 contributor: fullname: Merveille – volume: 14 start-page: 140 year: 2012 end-page: 147 ident: CR8 article-title: Multicilin promotes centriole assembly and ciliogenesis during multiciliate cell differentiation publication-title: Nat. Cell Biol. doi: 10.1038/ncb2406 contributor: fullname: Kintner – volume: 456 start-page: 611 year: 2008 end-page: 616 ident: CR22 article-title: Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins publication-title: Nature doi: 10.1038/nature07471 contributor: fullname: Omran – volume: 136 start-page: 2297 year: 2009 end-page: 2307 ident: CR12 article-title: Notch signaling controls the balance of ciliated and secretory cell fates in developing airways publication-title: Development doi: 10.1242/dev.034884 contributor: fullname: Tsao – volume: 8 start-page: 1434 year: 1994 end-page: 1447 ident: CR23 article-title: Expression of achaete-scute homolog 3 in embryos converts ectodermal cells to a neural fate publication-title: Genes Dev. doi: 10.1101/gad.8.12.1434 contributor: fullname: Weintraub – volume: 50 start-page: 176 year: 2012 end-page: 185 ident: CR19 article-title: Understanding ciliated epithelia: the power of publication-title: Genesis doi: 10.1002/dvg.20824 contributor: fullname: Mitchell – volume: 40 start-page: 1454 year: 2008 end-page: 1460 ident: CR14 article-title: The forkhead protein Foxj1 specifies node-like cilia in and zebrafish embryos publication-title: Nat. Genet. doi: 10.1038/ng.267 contributor: fullname: Kintner – ident: CR24 – volume: 8 start-page: 880 year: 2007 end-page: 893 ident: CR1 article-title: When cilia go bad: cilia defects and ciliopathies publication-title: Nat. Rev. Mol. Cell Biol. contributor: fullname: Omran – volume: 43 start-page: 72 year: 2011 ident: BFng2961_CR4 publication-title: Nat. Genet. doi: 10.1038/ng.726 contributor: fullname: AC Merveille – volume: 27 start-page: 103 year: 2013 ident: BFng2961_CR15 publication-title: Dev. Cell doi: 10.1016/j.devcel.2013.08.021 contributor: fullname: DA Klos Dehring – volume: 136 start-page: 2297 year: 2009 ident: BFng2961_CR12 publication-title: Development doi: 10.1242/dev.034884 contributor: fullname: PN Tsao – volume: 13 start-page: 259 year: 1992 ident: BFng2961_CR18 publication-title: Pediatr. Pulmonol. doi: 10.1002/ppul.1950130416 contributor: fullname: K DeBoeck – volume: 140 start-page: 4277 year: 2013 ident: BFng2961_CR17 publication-title: Development doi: 10.1242/dev.094102 contributor: fullname: FE Tan – volume: 456 start-page: 611 year: 2008 ident: BFng2961_CR22 publication-title: Nature doi: 10.1038/nature07471 contributor: fullname: H Omran – volume: 136 start-page: 1751 year: 2009 ident: BFng2961_CR11 publication-title: Development doi: 10.1242/dev.029249 contributor: fullname: JS Guseh – volume: 50 start-page: 176 year: 2012 ident: BFng2961_CR19 publication-title: Genesis doi: 10.1002/dvg.20824 contributor: fullname: ME Werner – volume: 7 start-page: e41077 year: 2012 ident: BFng2961_CR13 publication-title: PLoS ONE doi: 10.1371/journal.pone.0041077 contributor: fullname: N Steere – volume: 8 start-page: 1434 year: 1994 ident: BFng2961_CR23 publication-title: Genes Dev. doi: 10.1101/gad.8.12.1434 contributor: fullname: DL Turner – ident: BFng2961_CR2 doi: 10.1038/nature11632 – volume: 30 start-page: 143 year: 2002 ident: BFng2961_CR3 publication-title: Nat. Genet. doi: 10.1038/ng817 contributor: fullname: H Olbrich – volume: 13 start-page: 693 year: 2011 ident: BFng2961_CR10 publication-title: Nat. Cell Biol. doi: 10.1038/ncb2241 contributor: fullname: B Marcet – volume: 140 start-page: 3468 year: 2013 ident: BFng2961_CR25 publication-title: Development doi: 10.1242/dev.096727 contributor: fullname: YH Chien – volume: 10 start-page: 2874 year: 2011 ident: BFng2961_CR9 publication-title: Cell Cycle doi: 10.4161/cc.10.17.17181 contributor: fullname: M Lizé – volume: 45 start-page: 995 year: 2013 ident: BFng2961_CR20 publication-title: Nat. Genet. doi: 10.1038/ng.2707 contributor: fullname: A Tarkar – volume: 3 start-page: 207 year: 1968 ident: BFng2961_CR6 publication-title: J. Cell Sci. doi: 10.1242/jcs.3.2.207 contributor: fullname: SP Sorokin – ident: BFng2961_CR24 – volume: 95 start-page: 829 year: 1998 ident: BFng2961_CR5 publication-title: Cell doi: 10.1016/S0092-8674(00)81705-5 contributor: fullname: S Nonaka – volume: 8 start-page: 880 year: 2007 ident: BFng2961_CR1 publication-title: Nat. Rev. Mol. Cell Biol. doi: 10.1038/nrm2278 contributor: fullname: M Fliegauf – volume: 199 start-page: 1083 year: 2012 ident: BFng2961_CR7 publication-title: J. Cell Biol. doi: 10.1083/jcb.201202126 contributor: fullname: KN Schmidt – volume: 14 start-page: 140 year: 2012 ident: BFng2961_CR8 publication-title: Nat. Cell Biol. doi: 10.1038/ncb2406 contributor: fullname: JL Stubbs – volume: 15 start-page: 1434 year: 2013 ident: BFng2961_CR16 publication-title: Nat. Cell Biol. doi: 10.1038/ncb2880 contributor: fullname: H Zhao – volume: 40 start-page: 1454 year: 2008 ident: BFng2961_CR14 publication-title: Nat. Genet. doi: 10.1038/ng.267 contributor: fullname: JL Stubbs – volume: 59 start-page: 418 year: 2006 ident: BFng2961_CR21 publication-title: Pediatr. Res. doi: 10.1203/01.pdr.0000200809.21364.e2 contributor: fullname: H Olbrich |
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Snippet | Heymut Omran and colleagues show that biallelic mutations in
CCNO
cause a chronic destructive lung disease resulting from loss of multiple motile cilia from... Using a whole-exome sequencing strategy, we identified recessive CCNO (encoding cyclin O) mutations in 16 individuals suffering from chronic destructive lung... |
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SubjectTerms | 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 |
Title | Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia |
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