TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization

Multiprotein complexes referred to as outer dynein arms (ODAs) develop the main mechanical force to generate the ciliary and flagellar beat. ODA defects are the most common cause of primary ciliary dyskinesia (PCD), a congenital disorder of ciliary beating, characterized by recurrent infections of t...

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Published inAmerican journal of human genetics Vol. 99; no. 2; pp. 460 - 469
Main Authors Wallmeier, Julia, Shiratori, Hidetaka, Dougherty, Gerard W., Edelbusch, Christine, Hjeij, Rim, Loges, Niki T., Menchen, Tabea, Olbrich, Heike, Pennekamp, Petra, Raidt, Johanna, Werner, Claudius, Minegishi, Katsura, Shinohara, Kyosuke, Asai, Yasuko, Takaoka, Katsuyoshi, Lee, Chanjae, Griese, Matthias, Memari, Yasin, Durbin, Richard, Kolb-Kokocinski, Anja, Sauer, Sascha, Wallingford, John B., Hamada, Hiroshi, Omran, Heymut
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 04.08.2016
Cell Press
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Abstract Multiprotein complexes referred to as outer dynein arms (ODAs) develop the main mechanical force to generate the ciliary and flagellar beat. ODA defects are the most common cause of primary ciliary dyskinesia (PCD), a congenital disorder of ciliary beating, characterized by recurrent infections of the upper and lower airways, as well as by progressive lung failure and randomization of left-right body asymmetry. Using a whole-exome sequencing approach, we identified recessive loss-of-function mutations within TTC25 in three individuals from two unrelated families affected by PCD. Mice generated by CRISPR/Cas9 technology and carrying a deletion of exons 2 and 3 in Ttc25 presented with laterality defects. Consistently, we observed immotile nodal cilia and missing leftward flow via particle image velocimetry. Furthermore, transmission electron microscopy (TEM) analysis in TTC25-deficient mice revealed an absence of ODAs. Consistent with our findings in mice, we were able to show loss of the ciliary ODAs in humans via TEM and immunofluorescence (IF) analyses. Additionally, IF analyses revealed an absence of the ODA docking complex (ODA-DC), along with its known components CCDC114, CCDC151, and ARMC4. Co-immunoprecipitation revealed interaction between the ODA-DC component CCDC114 and TTC25. Thus, here we report TTC25 as a new member of the ODA-DC machinery in humans and mice.
AbstractList Multiprotein complexes referred to as outer dynein arms (ODAs) develop the main mechanical force to generate the ciliary and flagellar beat. ODA defects are the most common cause of primary ciliary dyskinesia (PCD), a congenital disorder of ciliary beating, characterized by recurrent infections of the upper and lower airways, as well as by progressive lung failure and randomization of left-right body asymmetry. Using a whole-exome sequencing approach, we identified recessive loss-of-function mutations within TTC25 in three individuals from two unrelated families affected by PCD. Mice generated by CRISPR/Cas9 technology and carrying a deletion of exons 2 and 3 in Ttc25 presented with laterality defects. Consistently, we observed immotile nodal cilia and missing leftward flow via particle image velocimetry. Furthermore, transmission electron microscopy (TEM) analysis in TTC25-deficient mice revealed an absence of ODAs. Consistent with our findings in mice, we were able to show loss of the ciliary ODAs in humans via TEM and immunofluorescence (IF) analyses. Additionally, IF analyses revealed an absence of the ODA docking complex (ODA-DC), along with its known components CCDC114, CCDC151, and ARMC4. Co-immunoprecipitation revealed interaction between the ODA-DC component CCDC114 and TTC25. Thus, here we report TTC25 as a new member of the ODA-DC machinery in humans and mice.
Multiprotein complexes referred to as outer dynein arms (ODAs) develop the main mechanical force to generate the ciliary and flagellar beat. ODA defects are the most common cause of primary ciliary dyskinesia (PCD), a congenital disorder of ciliary beating, characterized by recurrent infections of the upper and lower airways, as well as by progressive lung failure and randomization of left-right body asymmetry. Using a whole-exome sequencing approach, we identified recessive loss-of-function mutations within TTC25 in three individuals from two unrelated families affected by PCD. Mice generated by CRISPR/Cas9 technology and carrying a deletion of exons 2 and 3 in Ttc25 presented with laterality defects. Consistently, we observed immotile nodal cilia and missing leftward flow via particle image velocimetry. Furthermore, transmission electron microscopy (TEM) analysis in TTC25-deficient mice revealed an absence of ODAs. Consistent with our findings in mice, we were able to show loss of the ciliary ODAs in humans via TEM and immunofluorescence (IF) analyses. Additionally, IF analyses revealed an absence of the ODA docking complex (ODA-DC), along with its known components CCDC114, CCDC151, and ARMC4. Co-immunoprecipitation revealed interaction between the ODA-DC component CCDC114 and TTC25. Thus, here we report TTC25 as a new member of the ODA-DC machinery in humans and mice.
Author Omran, Heymut
Lee, Chanjae
Olbrich, Heike
Dougherty, Gerard W.
Menchen, Tabea
Edelbusch, Christine
Minegishi, Katsura
Hamada, Hiroshi
Takaoka, Katsuyoshi
Durbin, Richard
Werner, Claudius
Loges, Niki T.
Griese, Matthias
Memari, Yasin
Sauer, Sascha
Raidt, Johanna
Wallmeier, Julia
Shiratori, Hidetaka
Wallingford, John B.
Asai, Yasuko
Kolb-Kokocinski, Anja
Pennekamp, Petra
Hjeij, Rim
Shinohara, Kyosuke
AuthorAffiliation 4 Department of Pediatric Pulmonology, Hauner Children’s Hospital and Ludwig Maximilian University, The German Center for Lung Research (DZL), 80337 Munich, Germany
6 Berlin Institute for Medical Systems Biology and Berlin Institute of Health Genomics Platforms, Laboratory of Functional Genomics, Nutrigenomics, and Systems Biology, Max Delbrück Center for Molecular Medicine, Robert Rössle Straße 10, 13125 Berlin, Germany
1 Department of Pediatrics, University Hospital Muenster, 48149 Muenster, Germany
5 Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK
3 Department of Molecular Biosciences, University of Texas at Austin, Austin, TX 78712, USA
2 Developmental Genetics Group, Graduate School of Frontier Biosciences, Osaka University, Suita, Osaka 565-0871, Japan
7 Otto Warburg Laboratory, Max Planck Institute for Molecular Genetics, Ihnestraße 63–73, 14195 Berlin, Germany
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BackLink https://www.ncbi.nlm.nih.gov/pubmed/27486780$$D View this record in MEDLINE/PubMed
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Copyright 2016 American Society of Human Genetics
Copyright © 2016 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
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Snippet Multiprotein complexes referred to as outer dynein arms (ODAs) develop the main mechanical force to generate the ciliary and flagellar beat. ODA defects are...
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proquest
crossref
pubmed
elsevier
SourceType Open Access Repository
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Index Database
Publisher
StartPage 460
SubjectTerms Airway management
Animals
Axoneme - genetics
Axoneme - metabolism
Axoneme - pathology
Axoneme - ultrastructure
Carrier Proteins - genetics
Cilia - metabolism
Cilia - pathology
Cilia - ultrastructure
Congenital diseases
Dyneins - chemistry
Dyneins - genetics
Dyneins - metabolism
Dyneins - ultrastructure
Exome - genetics
Exons - genetics
Fluorescent Antibody Technique
Genes, Recessive
Genomics
Humans
Immunology
Kartagener Syndrome - genetics
Kartagener Syndrome - pathology
Mice
Microscopy, Electron, Transmission
Mutation
Protein Binding
Rodents
Transmission electron microscopy
Xenopus
Xenopus Proteins - deficiency
Xenopus Proteins - genetics
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  priority: 102
  providerName: Elsevier
Title TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization
URI https://dx.doi.org/10.1016/j.ajhg.2016.06.014
https://www.ncbi.nlm.nih.gov/pubmed/27486780
https://www.proquest.com/docview/1811729880
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https://pubmed.ncbi.nlm.nih.gov/PMC4974089
Volume 99
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