CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

被引：0

作者：

Anne-Christine Merveille

Erica E Davis

Anita Becker-Heck

Marie Legendre

Israel Amirav

Géraldine Bataille

John Belmont

Nicole Beydon

Frédéric Billen

Annick Clément

Cécile Clercx

André Coste

Rachelle Crosbie

Jacques de Blic

Stephane Deleuze

Philippe Duquesnoy

Denise Escalier

Estelle Escudier

Manfred Fliegauf

Judith Horvath

Kent Hill

Mark Jorissen

Jocelyne Just

Andreas Kispert

Mark Lathrop

Niki Tomas Loges

June K Marthin

Yukihide Momozawa

Guy Montantin

Kim G Nielsen

Heike Olbrich

Jean-François Papon

Isabelle Rayet

Gilles Roger

Miriam Schmidts

Henrique Tenreiro

Jeffrey A Towbin

Diana Zelenika

Hanswalter Zentgraf

Michel Georges

Anne-Sophie Lequarré

Nicholas Katsanis

Heymut Omran

Serge Amselem

机构：

[1] Unit of Animal Genomics,Department of Cell Biology

[2] Groupe Interdisciplinaire de Genomique Appliquee-Recherche (GIGA-R) and Faculty of Veterinary Medicine,Department of Pediatrics and Adolescent Medicine

[3] University of Liège (B34),Department of General Pediatrics

[4] Center for Human Disease Modeling,Department of Pediatrics

[5] Duke University Medical Center,Department of Molecular and Human Genetics

[6] University Hospital Freiburg,Department of Clinical Sciences

[7] Faculty of Biology,Department of Microbiology

[8] Albert-Ludwigs-University,Department of Otorhinolaryngology

[9] University Children's Hospital Münster,Department of Tumor Virology

[10] Institut National de la Santé et de la Recherche Médicale (INSERM) U.933,undefined

[11] Université Pierre et Marie Curie-Paris 6 and Assistance Publique-Hôpitaux de Paris (AP-HP),undefined

[12] Hôpital Armand-Trousseau,undefined

[13] Ziv Medical Center,undefined

[14] Rapaport Faculty of Medicine,undefined

[15] Technion-Israel Institute of Technology,undefined

[16] Baylor College of Medicine,undefined

[17] AP-HP,undefined

[18] Hôpital Armand-Trousseau,undefined

[19] Service d′explorations fonctionnelles respiratoires,undefined

[20] Faculty of Veterinary Medicine,undefined

[21] University of Liège,undefined

[22] AP-HP,undefined

[23] Hôpital Armand-Trousseau,undefined

[24] Unité de pneumologie pédiatrique,undefined

[25] Centre de Référence des Maladies Respiratoires Rares,undefined

[26] AP-HP,undefined

[27] Hôpital Intercommunal et Groupe Hospitalier Henri Mondor-Albert Chenevier,undefined

[28] Service d'ORL et de chirurgie cervico-faciale,undefined

[29] Immunology and Molecular Genetics,undefined

[30] University of California,undefined

[31] AP-HP,undefined

[32] Groupe Hospitalier Necker-Enfants Malades,undefined

[33] Service de pneumologie et d'allergologie pédiatriques,undefined

[34] Head and Neck Surgery,undefined

[35] University Hospitals Leuven,undefined

[36] AP-HP,undefined

[37] Hôpital Armand-Trousseau,undefined

[38] Centre d'investigation de l'asthme et des allergies,undefined

[39] Institut für Molekularbiologie,undefined

[40] Medizinische Hochschule Hannover,undefined

[41] Centre National de Génotypage,undefined

[42] Hôpital Nord,undefined

[43] Service de réanimation pédiatrique,undefined

[44] Centre Hospitalier Universitaire de Saint-Etienne,undefined

[45] Copenhagen University Hospital,undefined

[46] Rigshospitalet,undefined

[47] Danish Primary Ciliary Dyskinesia Center,undefined

[48] Pediatric Pulmonary Service,undefined

[49] AP-HP,undefined

[50] Hôpital Armand-Trousseau,undefined

来源：

Nature Genetics | 2011年 / 43卷

关键词：

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中图分类号：

学科分类号：

摘要：

Michel Georges and colleagues identify a founder mutation in CCDC39 associated with primary ciliary dyskinesia in Old English Sheepdogs. They further show that mutations in human CCDC39 cause a similar phenotype and that CCDC39 is required for the assembly of inner dynein arms and the dynein regulatory complex.

引用

页码：72 / 78

页数：6

共 30 条

[1] CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs
Merveille, Anne-Christine
Davis, Erica E.
Becker-Heck, Anita
Legendre, Marie
Amirav, Israel
Bataille, Geraldine
Belmont, John
Beydon, Nicole
Billen, Frederic
Clement, Annick
Clercx, Cecile
Coste, Andre
Crosbie, Rachelle
de Blic, Jacques
Deleuze, Stephane
Duquesnoy, Philippe
Escalier, Denise
Escudier, Estelle
Fliegauf, Manfred
Horvath, Judith
Hill, Kent
Jorissen, Mark
Just, Jocelyne
Kispert, Andreas
Lathrop, Mark
Loges, Niki Tomas
Marthin, June K.
Momozawa, Yukihide
Montantin, Guy
Nielsen, Kim G.
Olbrich, Heike
Papon, Jean-Francois
Rayet, Isabelle
Roger, Gilles
Schmidts, Miriam
Tenreiro, Henrique
Towbin, Jeffrey A.
Zelenika, Diana
Zentgraf, Hanswalter
Georges, Michel
Lequarre, Anne-Sophie
Katsanis, Nicholas
Omran, Heymut
Amselem, Serge
[J]. NATURE GENETICS, 2011, 43 (01) : 72 - U98
[2] Mutations in CCDC39 and CCDC40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms
Antony, Dinu
Becker-Heck, Anita
Zariwala, Maimoona A.
Schmidts, Miriam
Onoufriadis, Alexandros
Forouhan, Mitra
Wilson, Robert
Taylor-Cox, Theresa
Dewar, Ann
Jackson, Claire
Goggin, Patricia
Loges, Niki T.
Olbrich, Heike
Jaspers, Martine
Jorissen, Mark
Leigh, Margaret W.
Wolf, Whitney E.
Daniels, M. Leigh Anne
Noone, Peadar G.
Ferkol, Thomas W.
Sagel, Scott D.
Rosenfeld, Margaret
Rutman, Andrew
Dixit, Abhijit
O'Callaghan, Christopher
Lucas, Jane S.
Hogg, Claire
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[J]. HUMAN MUTATION, 2013, 34 (03) : 462 - 472
[3] The dynein regulatory complex is required for ciliary motility and otolith biogenesis in the inner ear
Jessica R. Colantonio
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David Wu
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Scott Fraser
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Kent L. Hill
[J]. Nature, 2009, 457 : 205 - 209
[4] The dynein regulatory complex is required for ciliary motility and otolith biogenesis in the inner ear
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Wu, David
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Fraser, Scott
Chen, Jau-Nian
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[J]. NATURE, 2009, 457 (7226) : 205 - U102
[5] The coiled coil domain containing proteins CCDC39 and CCDC40 are required for assembly of the nexin-dynein regulatory complex and affect tubulin
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[J]. MOLECULAR BIOLOGY OF THE CELL, 2014, 25
[6] The Mia complex is a conserved dynein regulator required for normal ciliary motility
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Song, K.
Yanagisawa, H-A
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[J]. MOLECULAR BIOLOGY OF THE CELL, 2012, 23
[7] CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms
Jennifer R Panizzi
Anita Becker-Heck
Victoria H Castleman
Dalal A Al-Mutairi
Yan Liu
Niki T Loges
Narendra Pathak
Christina Austin-Tse
Eamonn Sheridan
Miriam Schmidts
Heike Olbrich
Claudius Werner
Karsten Häffner
Nathan Hellman
Rahul Chodhari
Amar Gupta
Albrecht Kramer-Zucker
Felix Olale
Rebecca D Burdine
Alexander F Schier
Christopher O'Callaghan
Eddie M K Chung
Richard Reinhardt
Hannah M Mitchison
Stephen M King
Heymut Omran
Iain A Drummond
[J]. Nature Genetics, 2012, 44 : 714 - 719
[8] CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms
Panizzi, Jennifer R.
Becker-Heck, Anita
Castleman, Victoria H.
Al-Mutairi, Dalal A.
Liu, Yan
Loges, Niki T.
Pathak, Narendra
Austin-Tse, Christina
Sheridan, Eamonn
Schmidts, Miriam
Olbrich, Heike
Werner, Claudius
Haeffner, Karsten
Hellman, Nathan
Chodhari, Rahul
Gupta, Amar
Kramer-Zucker, Albrecht
Olale, Felix
Burdine, Rebecca D.
Schier, Alexander F.
O'Callaghan, Christopher
Chung, Eddie M. K.
Reinhardt, Richard
Mitchison, Hannah M.
King, Stephen M.
Omran, Heymut
Drummond, Iain A.
[J]. NATURE GENETICS, 2012, 44 (06) : 714 - U148
[9] THE INNER DYNEIN ARMS I2 INTERACT WITH A DYNEIN REGULATORY COMPLEX IN CHLAMYDOMONAS FLAGELLA
PIPERNO, G
MEAD, K
SHESTAK, W
[J]. JOURNAL OF CELL BIOLOGY, 1992, 118 (06): : 1455 - 1463
[10] Plac8 Is Required For Ciliary Outer Dynein Arm Assembly And Motility
Horani, A.
Solnica-Krezel, L.
Ma, H.
Coffey, R.
Brody, S. L.
[J]. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2014, 189

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