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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6
American Journal of Human Genetics, Volume 93, No. 2, Year 2013
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Description
Defects of motile cilia cause primary ciliary dyskinesia (PCD), characterized by recurrent respiratory infections and male infertility. Using whole-exome resequencing and high-throughput mutation analysis, we identified recessive biallelic mutations in ZMYND10 in 14 families and mutations in the recently identified LRRC6 in 13 families. We show that ZMYND10 and LRRC6 interact and that certain ZMYND10 and LRRC6 mutations abrogate the interaction between the LRRC6 CS domain and the ZMYND10 C-terminal domain. Additionally, ZMYND10 and LRRC6 colocalize with the centriole markers SAS6 and PCM1. Mutations in ZMYND10 result in the absence of the axonemal protein components DNAH5 and DNALI1 from respiratory cilia. Animal models support the association between ZMYND10 and human PCD, given that zmynd10 knockdown in zebrafish caused ciliary paralysis leading to cystic kidneys and otolith defects and that knockdown in Xenopus interfered with ciliogenesis. Our findings suggest that a cytoplasmic protein complex containing ZMYND10 and LRRC6 is necessary for motile ciliary function. © 2013 The American Society of Human Genetics.
Authors & Co-Authors
Zariwala, Maimoona A.
United States, Chapel Hill
The University of North Carolina at Chapel Hill
Gee, Heonyung
United States, Boston
Boston Children's Hospital
Kurkowiak, Małgorzata
Germany, Munster
Universitätsklinikum Münster
Poland, Poznan
Institute of Human Genetics of the Polish Academy of Sciences
Poland, Warsaw
Międzynarodowy Instytut Biologii Molekularnej I Komórkowej w Warszawie
Al-Mutairi, Dalal A.
Kuwait, Kuwait City
Kuwait University
United Kingdom, Leeds
University of Leeds, School of Medicine
Leigh, Margaret W.
United States, Chapel Hill
Unc School of Medicine
Hurd, Toby W.
United Kingdom, Edinburgh
Mrc Human Genetics Unit
Hjeij, Rim
Germany, Munster
Universitätsklinikum Münster
Dell, Sharon D.
Canada, Toronto
Hospital for Sick Children University of Toronto
Chaki, Moumita
United States, Ann Arbor
University of Michigan, Ann Arbor
Dougherty, Gerard W.
Germany, Munster
Universitätsklinikum Münster
Adan, Mohamed
United States, Boston
Massachusetts General Hospital
Spear, Philip C.
United States, Evanston
Northwestern University
Esteve-Rudd, Julián
United States, Los Angeles
University of California, Los Angeles
Loges, Niki Tomas
Germany, Munster
Universitätsklinikum Münster
Rosenfeld, Margaret
United States, Seattle
University of Washington School of Medicine
Diaz, Katrina A.
United States, Ann Arbor
University of Michigan, Ann Arbor
Olbrich, Heike
Germany, Munster
Universitätsklinikum Münster
Wolf, Whitney E.
United States, Chapel Hill
Unc School of Medicine
Sheridan, Eamonn G.
United Kingdom, Leeds
St James's University Hospital
Batten, Trevor F.C.
United Kingdom, Leeds
University of Leeds, School of Medicine
Halbritter, J.
United States, Boston
Boston Children's Hospital
Porath, Jonathan D.
United States, Boston
Boston Children's Hospital
Kohl, Stefan
United States, Boston
Boston Children's Hospital
Lovric, Svjetlana
United States, Boston
Boston Children's Hospital
Hwang, Daw Yang
United States, Boston
Boston Children's Hospital
Pittman, Jessica E.
United States, Chapel Hill
Unc School of Medicine
Burns, Kimberlie A.
United States, Chapel Hill
Unc School of Medicine
Ferkol, Thomas W.
United States, St. Louis
Washington University in St. Louis
Sagel, Scott D.
United States, Aurora
University of Colorado Anschutz Medical Campus
Olivier, Kenneth N.
United States, Bethesda
National Institute of Allergy and Infectious Diseases Niaid
Morgan, Lucy C.
Australia, Sydney
Concord Repatriation General Hospital
Werner, Claudius
Germany, Munster
Universitätsklinikum Münster
Raidt, Johanna
Germany, Munster
Universitätsklinikum Münster
Pennekamp, Petra
Germany, Munster
Universitätsklinikum Münster
Sun, Zhaoxia
United States, New Haven
Yale University
Zhou, Weibin
United States, Ann Arbor
University of Michigan, Ann Arbor
Airik, Rannar
United States, Boston
Boston Children's Hospital
Natarajan, Sivakumar
United States, Ann Arbor
University of Michigan, Ann Arbor
Allen, Susan J.
United States, Ann Arbor
University of Michigan, Ann Arbor
Amirav, Israel
Israel, Ramat Gan
Bar-ilan University
Wieczorek, Dagmar
Germany, Essen
Universitätsklinikum Essen
Landwehr, Kerstin
Germany, Bielefeld
Evangelisches Klinikum Bethel
Gjerum Nielsen, Kim Gjerum
Denmark, Copenhagen
Copenhagen University Hospital
Schwerk, Nicolaus
Germany, Hannover
Hannover Medical School
Sertić, Jadranka
Croatia, Zagreb
Kbc Zagreb
Köhler, Gabriele
Germany, Munster
Universitätsklinikum Münster
Washburn, Joseph G.
United States, Ann Arbor
University of Michigan Rogel Cancer Center
Levy, Shawn E.
United States, Huntsville
Hudsonalpha Institute for Biotechnology
Fan, Shuling
United States, Ann Arbor
University of Michigan, Ann Arbor
Koerner-Rettberg, Cordula
Germany, Bochum
Ruhr-universitat Bochum
Amselem, Serge
France, Paris
Inserm
Williams, David S.
United States, Los Angeles
University of California, Los Angeles
Mitchell, Brian J.
United States, Evanston
Northwestern University
Drummond, Iain A.S.
United States, Boston
Massachusetts General Hospital
United States, Boston
Harvard Medical School
Otto, Edgar A.
United States, Ann Arbor
University of Michigan, Ann Arbor
Omran, Heymut
Germany, Munster
Universitätsklinikum Münster
Knowles, Michael R.
United States, Chapel Hill
Unc School of Medicine
Hildebrandt, Friedhelm
United States, Boston
Boston Children's Hospital
United States, Chevy Chase
Howard Hughes Medical Institute
Statistics
Citations: 179
Authors: 58
Affiliations: 33
Identifiers
Doi:
10.1016/j.ajhg.2013.06.007
ISSN:
00029297
e-ISSN:
15376605
Research Areas
Cancer
Genetics And Genomics
Sexual And Reproductive Health
Participants Gender
Male