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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en"><italic>ZMYND10</italic> Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6</title><author><name sortKey="Zariwala, Maimoona A" sort="Zariwala, Maimoona A" uniqKey="Zariwala M" first="Maimoona A." last="Zariwala">Maimoona A. Zariwala</name><affiliation><nlm:aff id="aff1">Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA</nlm:aff></affiliation></author><author><name sortKey="Gee, Heon Yung" sort="Gee, Heon Yung" uniqKey="Gee H" first="Heon Yung" last="Gee">Heon Yung Gee</name><affiliation><nlm:aff id="aff2">Division of Nephrology, Department of Medicine, Boston Children’s Hospital, affiliated with Harvard Medical School, Boston, MA 02115, USA</nlm:aff></affiliation></author><author><name sortKey="Kurkowiak, Malgorzata" sort="Kurkowiak, Malgorzata" uniqKey="Kurkowiak M" first="Małgorzata" last="Kurkowiak">Małgorzata Kurkowiak</name><affiliation><nlm:aff id="aff3">Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Department of Molecular and Clinical Genetics, Institute of Human Genetics, Polish Academy of Sciences, Strzeszyńska 32, 60-479 Poznań, Poland</nlm:aff></affiliation><affiliation><nlm:aff id="aff5">International Institute of Molecular and Cell Biology, Trojdena 4, 02-109 Warsaw, Poland</nlm:aff></affiliation></author><author><name sortKey="Al Mutairi, Dalal A" sort="Al Mutairi, Dalal A" uniqKey="Al Mutairi D" first="Dalal A." last="Al-Mutairi">Dalal A. Al-Mutairi</name><affiliation><nlm:aff id="aff6">Department of Pathology, Faculty of Medicine, Health Sciences Center, Kuwait University, PO Box 24923 Safat, 13110, Kuwait</nlm:aff></affiliation><affiliation><nlm:aff id="aff7">Leeds Institute for Genetics Health and Therapeutics, Faculty of Medicine and Health, University of Leeds, Leeds LS2 9JT, UK</nlm:aff></affiliation></author><author><name sortKey="Leigh, Margaret W" sort="Leigh, Margaret W" uniqKey="Leigh M" first="Margaret W." last="Leigh">Margaret W. Leigh</name><affiliation><nlm:aff id="aff8">Department of Pediatrics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA</nlm:aff></affiliation></author><author><name sortKey="Hurd, Toby W" sort="Hurd, Toby W" uniqKey="Hurd T" first="Toby W." last="Hurd">Toby W. Hurd</name><affiliation><nlm:aff id="aff9">Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK</nlm:aff></affiliation></author><author><name sortKey="Hjeij, Rim" sort="Hjeij, Rim" uniqKey="Hjeij R" first="Rim" last="Hjeij">Rim Hjeij</name><affiliation><nlm:aff id="aff3">Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster, Germany</nlm:aff></affiliation></author><author><name sortKey="Dell, Sharon D" sort="Dell, Sharon D" uniqKey="Dell S" first="Sharon D." last="Dell">Sharon D. Dell</name><affiliation><nlm:aff id="aff10">Department of Pediatrics, The Hospital for Sick Children, University of Toronto, ON M5G1X8, Canada</nlm:aff></affiliation></author><author><name sortKey="Chaki, Moumita" sort="Chaki, Moumita" uniqKey="Chaki M" first="Moumita" last="Chaki">Moumita Chaki</name><affiliation><nlm:aff id="aff11">Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA</nlm:aff></affiliation></author><author><name sortKey="Dougherty, Gerard W" sort="Dougherty, Gerard W" uniqKey="Dougherty G" first="Gerard W." last="Dougherty">Gerard W. Dougherty</name><affiliation><nlm:aff id="aff3">Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster, Germany</nlm:aff></affiliation></author><author><name sortKey="Adan, Mohamed" sort="Adan, Mohamed" uniqKey="Adan M" first="Mohamed" last="Adan">Mohamed Adan</name><affiliation><nlm:aff id="aff12">Nephrology Division, Massachusetts General Hospital, Boston, MA 02114, USA</nlm:aff></affiliation></author><author><name sortKey="Spear, Philip C" sort="Spear, Philip C" uniqKey="Spear P" first="Philip C." last="Spear">Philip C. Spear</name><affiliation><nlm:aff id="aff13">Department of Cell and Molecular Biology, Northwestern University, Chicago, IL 60611, USA</nlm:aff></affiliation></author><author><name sortKey="Esteve Rudd, Julian" sort="Esteve Rudd, Julian" uniqKey="Esteve Rudd J" first="Julian" last="Esteve-Rudd">Julian Esteve-Rudd</name><affiliation><nlm:aff id="aff14">Departments of Ophthalmology and Neurobiology, Jules Stein Eye Institute, School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA</nlm:aff></affiliation></author><author><name sortKey="Loges, Niki T" sort="Loges, Niki T" uniqKey="Loges N" first="Niki T." last="Loges">Niki T. Loges</name><affiliation><nlm:aff id="aff3">Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster, Germany</nlm:aff></affiliation></author><author><name sortKey="Rosenfeld, Margaret" sort="Rosenfeld, Margaret" uniqKey="Rosenfeld M" first="Margaret" last="Rosenfeld">Margaret Rosenfeld</name><affiliation><nlm:aff id="aff15">Seattle Children’s Hospital, School of Medicine, University of Washington, Seattle, WA 98105, USA</nlm:aff></affiliation></author><author><name sortKey="Diaz, Katrina A" sort="Diaz, Katrina A" uniqKey="Diaz K" first="Katrina A." last="Diaz">Katrina A. Diaz</name><affiliation><nlm:aff id="aff11">Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA</nlm:aff></affiliation></author><author><name sortKey="Olbrich, Heike" sort="Olbrich, Heike" uniqKey="Olbrich H" first="Heike" last="Olbrich">Heike Olbrich</name><affiliation><nlm:aff id="aff3">Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster, Germany</nlm:aff></affiliation></author><author><name sortKey="Wolf, Whitney E" sort="Wolf, Whitney E" uniqKey="Wolf W" first="Whitney E." last="Wolf">Whitney E. Wolf</name><affiliation><nlm:aff id="aff16">Department of Medicine, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA</nlm:aff></affiliation></author><author><name sortKey="Sheridan, Eamonn" sort="Sheridan, Eamonn" uniqKey="Sheridan E" first="Eamonn" last="Sheridan">Eamonn Sheridan</name><affiliation><nlm:aff id="aff17">Leeds Institute of Molecular Medicine, Wellcome Trust Brenner Building, St. James’s University Hospital, Leeds LS9 7TF, UK</nlm:aff></affiliation></author><author><name sortKey="Batten, Trevor F C" sort="Batten, Trevor F C" uniqKey="Batten T" first="Trevor F. C." last="Batten">Trevor F. C. Batten</name><affiliation><nlm:aff id="aff7">Leeds Institute for Genetics Health and Therapeutics, Faculty of Medicine and Health, University of Leeds, Leeds LS2 9JT, UK</nlm:aff></affiliation></author><author><name sortKey="Halbritter, Jan" sort="Halbritter, Jan" uniqKey="Halbritter J" first="Jan" last="Halbritter">Jan Halbritter</name><affiliation><nlm:aff id="aff2">Division of Nephrology, Department of Medicine, Boston Children’s Hospital, affiliated with Harvard Medical School, Boston, MA 02115, USA</nlm:aff></affiliation></author><author><name sortKey="Porath, Jonathan D" sort="Porath, Jonathan D" uniqKey="Porath J" first="Jonathan D." last="Porath">Jonathan D. Porath</name><affiliation><nlm:aff id="aff2">Division of Nephrology, Department of Medicine, Boston Children’s Hospital, affiliated with Harvard Medical School, Boston, MA 02115, USA</nlm:aff></affiliation></author><author><name sortKey="Kohl, Stefan" sort="Kohl, Stefan" uniqKey="Kohl S" first="Stefan" last="Kohl">Stefan Kohl</name><affiliation><nlm:aff id="aff2">Division of Nephrology, Department of Medicine, Boston Children’s Hospital, affiliated with Harvard Medical School, Boston, MA 02115, USA</nlm:aff></affiliation></author><author><name sortKey="Lovric, Svjetlana" sort="Lovric, Svjetlana" uniqKey="Lovric S" first="Svjetlana" last="Lovric">Svjetlana Lovric</name><affiliation><nlm:aff id="aff2">Division of Nephrology, Department of Medicine, Boston Children’s Hospital, affiliated with Harvard Medical School, Boston, MA 02115, USA</nlm:aff></affiliation></author><author><name sortKey="Hwang, Daw Yang" sort="Hwang, Daw Yang" uniqKey="Hwang D" first="Daw-Yang" last="Hwang">Daw-Yang Hwang</name><affiliation><nlm:aff id="aff2">Division of Nephrology, Department of Medicine, Boston Children’s Hospital, affiliated with Harvard Medical School, Boston, MA 02115, USA</nlm:aff></affiliation></author><author><name sortKey="Pittman, Jessica E" sort="Pittman, Jessica E" uniqKey="Pittman J" first="Jessica E." last="Pittman">Jessica E. Pittman</name><affiliation><nlm:aff id="aff8">Department of Pediatrics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA</nlm:aff></affiliation></author><author><name sortKey="Burns, Kimberlie A" sort="Burns, Kimberlie A" uniqKey="Burns K" first="Kimberlie A." last="Burns">Kimberlie A. Burns</name><affiliation><nlm:aff id="aff16">Department of Medicine, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA</nlm:aff></affiliation></author><author><name sortKey="Ferkol, Thomas W" sort="Ferkol, Thomas W" uniqKey="Ferkol T" first="Thomas W." last="Ferkol">Thomas W. Ferkol</name><affiliation><nlm:aff id="aff18">Department of Pediatrics, School of Medicine, Washington University in St. Louis, St. Louis, MO 63110, USA</nlm:aff></affiliation></author><author><name sortKey="Sagel, Scott D" sort="Sagel, Scott D" uniqKey="Sagel S" first="Scott D." last="Sagel">Scott D. Sagel</name><affiliation><nlm:aff id="aff19">Department of Pediatrics, School of Medicine, University of Colorado, Aurora, CO 80045, USA</nlm:aff></affiliation></author><author><name sortKey="Olivier, Kenneth N" sort="Olivier, Kenneth N" uniqKey="Olivier K" first="Kenneth N." last="Olivier">Kenneth N. Olivier</name><affiliation><nlm:aff id="aff20">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Morgan, Lucy C" sort="Morgan, Lucy C" uniqKey="Morgan L" first="Lucy C." last="Morgan">Lucy C. Morgan</name><affiliation><nlm:aff id="aff21">Department of Respiratory Medicine, Concord Hospital, Concord 2139, Australia</nlm:aff></affiliation></author><author><name sortKey="Werner, Claudius" sort="Werner, Claudius" uniqKey="Werner C" first="Claudius" last="Werner">Claudius Werner</name><affiliation><nlm:aff id="aff3">Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster, Germany</nlm:aff></affiliation></author><author><name sortKey="Raidt, Johanna" sort="Raidt, Johanna" uniqKey="Raidt J" first="Johanna" last="Raidt">Johanna Raidt</name><affiliation><nlm:aff id="aff3">Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster, Germany</nlm:aff></affiliation></author><author><name sortKey="Pennekamp, Petra" sort="Pennekamp, Petra" uniqKey="Pennekamp P" first="Petra" last="Pennekamp">Petra Pennekamp</name><affiliation><nlm:aff id="aff3">Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster, Germany</nlm:aff></affiliation></author><author><name sortKey="Sun, Zhaoxia" sort="Sun, Zhaoxia" uniqKey="Sun Z" first="Zhaoxia" last="Sun">Zhaoxia Sun</name><affiliation><nlm:aff id="aff22">Department of Genetics, Yale University, New Haven, CT 06520, USA</nlm:aff></affiliation></author><author><name sortKey="Zhou, Weibin" sort="Zhou, Weibin" uniqKey="Zhou W" first="Weibin" last="Zhou">Weibin Zhou</name><affiliation><nlm:aff id="aff11">Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA</nlm:aff></affiliation></author><author><name sortKey="Airik, Rannar" sort="Airik, Rannar" uniqKey="Airik R" first="Rannar" last="Airik">Rannar Airik</name><affiliation><nlm:aff id="aff2">Division of Nephrology, Department of Medicine, Boston Children’s Hospital, affiliated with Harvard Medical School, Boston, MA 02115, USA</nlm:aff></affiliation></author><author><name sortKey="Natarajan, Sivakumar" sort="Natarajan, Sivakumar" uniqKey="Natarajan S" first="Sivakumar" last="Natarajan">Sivakumar Natarajan</name><affiliation><nlm:aff id="aff11">Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA</nlm:aff></affiliation></author><author><name sortKey="Allen, Susan J" sort="Allen, Susan J" uniqKey="Allen S" first="Susan J." last="Allen">Susan J. Allen</name><affiliation><nlm:aff id="aff11">Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA</nlm:aff></affiliation></author><author><name sortKey="Amirav, Israel" sort="Amirav, Israel" uniqKey="Amirav I" first="Israel" last="Amirav">Israel Amirav</name><affiliation><nlm:aff id="aff23">Pediatric Department, Ziv Medical Center, Faculty of Medicine, Bar IIan University, Safed, 13100 Israel</nlm:aff></affiliation></author><author><name sortKey="Wieczorek, Dagmar" sort="Wieczorek, Dagmar" uniqKey="Wieczorek D" first="Dagmar" last="Wieczorek">Dagmar Wieczorek</name><affiliation><nlm:aff id="aff24">Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstraße 55, 45122 Essen, Germany</nlm:aff></affiliation></author><author><name sortKey="Landwehr, Kerstin" sort="Landwehr, Kerstin" uniqKey="Landwehr K" first="Kerstin" last="Landwehr">Kerstin Landwehr</name><affiliation><nlm:aff id="aff25">Evangelisches Krankenhaus Bielefeld, Klinik für Kinder- und Jugendmedizin, 33617 Bielefeld, Nordrhein-Westfalen, Germany</nlm:aff></affiliation></author><author><name sortKey="Nielsen, Kim" sort="Nielsen, Kim" uniqKey="Nielsen K" first="Kim" last="Nielsen">Kim Nielsen</name><affiliation><nlm:aff id="aff26">Paediatric Pulmonary Service, Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, 2100 Copenhagen, Denmark</nlm:aff></affiliation></author><author><name sortKey="Schwerk, Nicolaus" sort="Schwerk, Nicolaus" uniqKey="Schwerk N" first="Nicolaus" last="Schwerk">Nicolaus Schwerk</name><affiliation><nlm:aff id="aff27">Department of Pneumology, Allergy, and Neonatology, University Children’s Hospital, Hannover Medical School, 30625 Hannover, Germany</nlm:aff></affiliation></author><author><name sortKey="Sertic, Jadranka" sort="Sertic, Jadranka" uniqKey="Sertic J" first="Jadranka" last="Sertic">Jadranka Sertic</name><affiliation><nlm:aff id="aff28">Zagreb Clinical Hospital Center, Clinical Institute of Laboratory Diagnosis, School of Medicine, Zagreb University, 10000 Zagreb, Croatia</nlm:aff></affiliation></author><author><name sortKey="Kohler, Gabriele" sort="Kohler, Gabriele" uniqKey="Kohler G" first="Gabriele" last="Köhler">Gabriele Köhler</name><affiliation><nlm:aff id="aff29">University Hospital Muenster, Department of Pathology, 48149 Muenster, Germany</nlm:aff></affiliation></author><author><name sortKey="Washburn, Joseph" sort="Washburn, Joseph" uniqKey="Washburn J" first="Joseph" last="Washburn">Joseph Washburn</name><affiliation><nlm:aff id="aff30">University of Michigan Comprehensive Cancer Center, University of Michigan, Ann Arbor, MI 48109, USA</nlm:aff></affiliation></author><author><name sortKey="Levy, Shawn" sort="Levy, Shawn" uniqKey="Levy S" first="Shawn" last="Levy">Shawn Levy</name><affiliation><nlm:aff id="aff31">HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL 35806, USA</nlm:aff></affiliation></author><author><name sortKey="Fan, Shuling" sort="Fan, Shuling" uniqKey="Fan S" first="Shuling" last="Fan">Shuling Fan</name><affiliation><nlm:aff id="aff32">Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48109, USA</nlm:aff></affiliation></author><author><name sortKey="Koerner Rettberg, Cordula" sort="Koerner Rettberg, Cordula" uniqKey="Koerner Rettberg C" first="Cordula" last="Koerner-Rettberg">Cordula Koerner-Rettberg</name><affiliation><nlm:aff id="aff33">Klinik für Kinder- und Jugendmedizin im St. Josef Hospital, Ruhr-Universität Bochum, 44791 Bochum, Germany</nlm:aff></affiliation></author><author><name sortKey="Amselem, Serge" sort="Amselem, Serge" uniqKey="Amselem S" first="Serge" last="Amselem">Serge Amselem</name><affiliation><nlm:aff id="aff34">Institut National de la Santé et de la Recherche Médicale Unité Mixte de Recherche S933, Université Pierre et Marie Curie (Paris 6), Paris 75012, France</nlm:aff></affiliation></author><author><name sortKey="Williams, David S" sort="Williams, David S" uniqKey="Williams D" first="David S." last="Williams">David S. Williams</name><affiliation><nlm:aff id="aff14">Departments of Ophthalmology and Neurobiology, Jules Stein Eye Institute, School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA</nlm:aff></affiliation></author><author><name sortKey="Mitchell, Brian J" sort="Mitchell, Brian J" uniqKey="Mitchell B" first="Brian J." last="Mitchell">Brian J. Mitchell</name><affiliation><nlm:aff id="aff13">Department of Cell and Molecular Biology, Northwestern University, Chicago, IL 60611, USA</nlm:aff></affiliation></author><author><name sortKey="Drummond, Iain A" sort="Drummond, Iain A" uniqKey="Drummond I" first="Iain A." last="Drummond">Iain A. Drummond</name><affiliation><nlm:aff id="aff12">Nephrology Division, Massachusetts General Hospital, Boston, MA 02114, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff35">Department of Genetics, Harvard Medical School, Boston, MA 02115, USA</nlm:aff></affiliation></author><author><name sortKey="Otto, Edgar A" sort="Otto, Edgar A" uniqKey="Otto E" first="Edgar A." last="Otto">Edgar A. Otto</name><affiliation><nlm:aff id="aff11">Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA</nlm:aff></affiliation></author><author><name sortKey="Omran, Heymut" sort="Omran, Heymut" uniqKey="Omran H" first="Heymut" last="Omran">Heymut Omran</name><affiliation><nlm:aff id="aff3">Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster, Germany</nlm:aff></affiliation></author><author><name sortKey="Knowles, Michael R" sort="Knowles, Michael R" uniqKey="Knowles M" first="Michael R." last="Knowles">Michael R. Knowles</name><affiliation><nlm:aff id="aff16">Department of Medicine, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA</nlm:aff></affiliation></author><author><name sortKey="Hildebrandt, Friedhelm" sort="Hildebrandt, Friedhelm" uniqKey="Hildebrandt F" first="Friedhelm" last="Hildebrandt">Friedhelm Hildebrandt</name><affiliation><nlm:aff id="aff2">Division of Nephrology, Department of Medicine, Boston Children’s Hospital, affiliated with Harvard Medical School, Boston, MA 02115, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff36">Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">23891469</idno><idno type="pmc">3738827</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3738827</idno><idno type="RBID">PMC:3738827</idno><idno type="doi">10.1016/j.ajhg.2013.06.007</idno><date when="2013">2013</date><idno type="wicri:Area/Pmc/Corpus">001204</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001204</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main"><italic>ZMYND10</italic> Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6</title><author><name sortKey="Zariwala, Maimoona A" sort="Zariwala, Maimoona A" uniqKey="Zariwala M" first="Maimoona A." last="Zariwala">Maimoona A. Zariwala</name><affiliation><nlm:aff id="aff1">Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA</nlm:aff></affiliation></author><author><name sortKey="Gee, Heon Yung" sort="Gee, Heon Yung" uniqKey="Gee H" first="Heon Yung" last="Gee">Heon Yung Gee</name><affiliation><nlm:aff id="aff2">Division of Nephrology, Department of Medicine, Boston Children’s Hospital, affiliated with Harvard Medical School, Boston, MA 02115, USA</nlm:aff></affiliation></author><author><name sortKey="Kurkowiak, Malgorzata" sort="Kurkowiak, Malgorzata" uniqKey="Kurkowiak M" first="Małgorzata" last="Kurkowiak">Małgorzata Kurkowiak</name><affiliation><nlm:aff id="aff3">Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Department of Molecular and Clinical Genetics, Institute of Human Genetics, Polish Academy of Sciences, Strzeszyńska 32, 60-479 Poznań, Poland</nlm:aff></affiliation><affiliation><nlm:aff id="aff5">International Institute of Molecular and Cell Biology, Trojdena 4, 02-109 Warsaw, Poland</nlm:aff></affiliation></author><author><name sortKey="Al Mutairi, Dalal A" sort="Al Mutairi, Dalal A" uniqKey="Al Mutairi D" first="Dalal A." last="Al-Mutairi">Dalal A. Al-Mutairi</name><affiliation><nlm:aff id="aff6">Department of Pathology, Faculty of Medicine, Health Sciences Center, Kuwait University, PO Box 24923 Safat, 13110, Kuwait</nlm:aff></affiliation><affiliation><nlm:aff id="aff7">Leeds Institute for Genetics Health and Therapeutics, Faculty of Medicine and Health, University of Leeds, Leeds LS2 9JT, UK</nlm:aff></affiliation></author><author><name sortKey="Leigh, Margaret W" sort="Leigh, Margaret W" uniqKey="Leigh M" first="Margaret W." last="Leigh">Margaret W. Leigh</name><affiliation><nlm:aff id="aff8">Department of Pediatrics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA</nlm:aff></affiliation></author><author><name sortKey="Hurd, Toby W" sort="Hurd, Toby W" uniqKey="Hurd T" first="Toby W." last="Hurd">Toby W. Hurd</name><affiliation><nlm:aff id="aff9">Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK</nlm:aff></affiliation></author><author><name sortKey="Hjeij, Rim" sort="Hjeij, Rim" uniqKey="Hjeij R" first="Rim" last="Hjeij">Rim Hjeij</name><affiliation><nlm:aff id="aff3">Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster, Germany</nlm:aff></affiliation></author><author><name sortKey="Dell, Sharon D" sort="Dell, Sharon D" uniqKey="Dell S" first="Sharon D." last="Dell">Sharon D. Dell</name><affiliation><nlm:aff id="aff10">Department of Pediatrics, The Hospital for Sick Children, University of Toronto, ON M5G1X8, Canada</nlm:aff></affiliation></author><author><name sortKey="Chaki, Moumita" sort="Chaki, Moumita" uniqKey="Chaki M" first="Moumita" last="Chaki">Moumita Chaki</name><affiliation><nlm:aff id="aff11">Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA</nlm:aff></affiliation></author><author><name sortKey="Dougherty, Gerard W" sort="Dougherty, Gerard W" uniqKey="Dougherty G" first="Gerard W." last="Dougherty">Gerard W. Dougherty</name><affiliation><nlm:aff id="aff3">Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster, Germany</nlm:aff></affiliation></author><author><name sortKey="Adan, Mohamed" sort="Adan, Mohamed" uniqKey="Adan M" first="Mohamed" last="Adan">Mohamed Adan</name><affiliation><nlm:aff id="aff12">Nephrology Division, Massachusetts General Hospital, Boston, MA 02114, USA</nlm:aff></affiliation></author><author><name sortKey="Spear, Philip C" sort="Spear, Philip C" uniqKey="Spear P" first="Philip C." last="Spear">Philip C. Spear</name><affiliation><nlm:aff id="aff13">Department of Cell and Molecular Biology, Northwestern University, Chicago, IL 60611, USA</nlm:aff></affiliation></author><author><name sortKey="Esteve Rudd, Julian" sort="Esteve Rudd, Julian" uniqKey="Esteve Rudd J" first="Julian" last="Esteve-Rudd">Julian Esteve-Rudd</name><affiliation><nlm:aff id="aff14">Departments of Ophthalmology and Neurobiology, Jules Stein Eye Institute, School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA</nlm:aff></affiliation></author><author><name sortKey="Loges, Niki T" sort="Loges, Niki T" uniqKey="Loges N" first="Niki T." last="Loges">Niki T. Loges</name><affiliation><nlm:aff id="aff3">Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster, Germany</nlm:aff></affiliation></author><author><name sortKey="Rosenfeld, Margaret" sort="Rosenfeld, Margaret" uniqKey="Rosenfeld M" first="Margaret" last="Rosenfeld">Margaret Rosenfeld</name><affiliation><nlm:aff id="aff15">Seattle Children’s Hospital, School of Medicine, University of Washington, Seattle, WA 98105, USA</nlm:aff></affiliation></author><author><name sortKey="Diaz, Katrina A" sort="Diaz, Katrina A" uniqKey="Diaz K" first="Katrina A." last="Diaz">Katrina A. Diaz</name><affiliation><nlm:aff id="aff11">Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA</nlm:aff></affiliation></author><author><name sortKey="Olbrich, Heike" sort="Olbrich, Heike" uniqKey="Olbrich H" first="Heike" last="Olbrich">Heike Olbrich</name><affiliation><nlm:aff id="aff3">Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster, Germany</nlm:aff></affiliation></author><author><name sortKey="Wolf, Whitney E" sort="Wolf, Whitney E" uniqKey="Wolf W" first="Whitney E." last="Wolf">Whitney E. Wolf</name><affiliation><nlm:aff id="aff16">Department of Medicine, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA</nlm:aff></affiliation></author><author><name sortKey="Sheridan, Eamonn" sort="Sheridan, Eamonn" uniqKey="Sheridan E" first="Eamonn" last="Sheridan">Eamonn Sheridan</name><affiliation><nlm:aff id="aff17">Leeds Institute of Molecular Medicine, Wellcome Trust Brenner Building, St. James’s University Hospital, Leeds LS9 7TF, UK</nlm:aff></affiliation></author><author><name sortKey="Batten, Trevor F C" sort="Batten, Trevor F C" uniqKey="Batten T" first="Trevor F. C." last="Batten">Trevor F. C. Batten</name><affiliation><nlm:aff id="aff7">Leeds Institute for Genetics Health and Therapeutics, Faculty of Medicine and Health, University of Leeds, Leeds LS2 9JT, UK</nlm:aff></affiliation></author><author><name sortKey="Halbritter, Jan" sort="Halbritter, Jan" uniqKey="Halbritter J" first="Jan" last="Halbritter">Jan Halbritter</name><affiliation><nlm:aff id="aff2">Division of Nephrology, Department of Medicine, Boston Children’s Hospital, affiliated with Harvard Medical School, Boston, MA 02115, USA</nlm:aff></affiliation></author><author><name sortKey="Porath, Jonathan D" sort="Porath, Jonathan D" uniqKey="Porath J" first="Jonathan D." last="Porath">Jonathan D. Porath</name><affiliation><nlm:aff id="aff2">Division of Nephrology, Department of Medicine, Boston Children’s Hospital, affiliated with Harvard Medical School, Boston, MA 02115, USA</nlm:aff></affiliation></author><author><name sortKey="Kohl, Stefan" sort="Kohl, Stefan" uniqKey="Kohl S" first="Stefan" last="Kohl">Stefan Kohl</name><affiliation><nlm:aff id="aff2">Division of Nephrology, Department of Medicine, Boston Children’s Hospital, affiliated with Harvard Medical School, Boston, MA 02115, USA</nlm:aff></affiliation></author><author><name sortKey="Lovric, Svjetlana" sort="Lovric, Svjetlana" uniqKey="Lovric S" first="Svjetlana" last="Lovric">Svjetlana Lovric</name><affiliation><nlm:aff id="aff2">Division of Nephrology, Department of Medicine, Boston Children’s Hospital, affiliated with Harvard Medical School, Boston, MA 02115, USA</nlm:aff></affiliation></author><author><name sortKey="Hwang, Daw Yang" sort="Hwang, Daw Yang" uniqKey="Hwang D" first="Daw-Yang" last="Hwang">Daw-Yang Hwang</name><affiliation><nlm:aff id="aff2">Division of Nephrology, Department of Medicine, Boston Children’s Hospital, affiliated with Harvard Medical School, Boston, MA 02115, USA</nlm:aff></affiliation></author><author><name sortKey="Pittman, Jessica E" sort="Pittman, Jessica E" uniqKey="Pittman J" first="Jessica E." last="Pittman">Jessica E. Pittman</name><affiliation><nlm:aff id="aff8">Department of Pediatrics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA</nlm:aff></affiliation></author><author><name sortKey="Burns, Kimberlie A" sort="Burns, Kimberlie A" uniqKey="Burns K" first="Kimberlie A." last="Burns">Kimberlie A. Burns</name><affiliation><nlm:aff id="aff16">Department of Medicine, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA</nlm:aff></affiliation></author><author><name sortKey="Ferkol, Thomas W" sort="Ferkol, Thomas W" uniqKey="Ferkol T" first="Thomas W." last="Ferkol">Thomas W. Ferkol</name><affiliation><nlm:aff id="aff18">Department of Pediatrics, School of Medicine, Washington University in St. Louis, St. Louis, MO 63110, USA</nlm:aff></affiliation></author><author><name sortKey="Sagel, Scott D" sort="Sagel, Scott D" uniqKey="Sagel S" first="Scott D." last="Sagel">Scott D. Sagel</name><affiliation><nlm:aff id="aff19">Department of Pediatrics, School of Medicine, University of Colorado, Aurora, CO 80045, USA</nlm:aff></affiliation></author><author><name sortKey="Olivier, Kenneth N" sort="Olivier, Kenneth N" uniqKey="Olivier K" first="Kenneth N." last="Olivier">Kenneth N. Olivier</name><affiliation><nlm:aff id="aff20">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Morgan, Lucy C" sort="Morgan, Lucy C" uniqKey="Morgan L" first="Lucy C." last="Morgan">Lucy C. Morgan</name><affiliation><nlm:aff id="aff21">Department of Respiratory Medicine, Concord Hospital, Concord 2139, Australia</nlm:aff></affiliation></author><author><name sortKey="Werner, Claudius" sort="Werner, Claudius" uniqKey="Werner C" first="Claudius" last="Werner">Claudius Werner</name><affiliation><nlm:aff id="aff3">Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster, Germany</nlm:aff></affiliation></author><author><name sortKey="Raidt, Johanna" sort="Raidt, Johanna" uniqKey="Raidt J" first="Johanna" last="Raidt">Johanna Raidt</name><affiliation><nlm:aff id="aff3">Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster, Germany</nlm:aff></affiliation></author><author><name sortKey="Pennekamp, Petra" sort="Pennekamp, Petra" uniqKey="Pennekamp P" first="Petra" last="Pennekamp">Petra Pennekamp</name><affiliation><nlm:aff id="aff3">Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster, Germany</nlm:aff></affiliation></author><author><name sortKey="Sun, Zhaoxia" sort="Sun, Zhaoxia" uniqKey="Sun Z" first="Zhaoxia" last="Sun">Zhaoxia Sun</name><affiliation><nlm:aff id="aff22">Department of Genetics, Yale University, New Haven, CT 06520, USA</nlm:aff></affiliation></author><author><name sortKey="Zhou, Weibin" sort="Zhou, Weibin" uniqKey="Zhou W" first="Weibin" last="Zhou">Weibin Zhou</name><affiliation><nlm:aff id="aff11">Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA</nlm:aff></affiliation></author><author><name sortKey="Airik, Rannar" sort="Airik, Rannar" uniqKey="Airik R" first="Rannar" last="Airik">Rannar Airik</name><affiliation><nlm:aff id="aff2">Division of Nephrology, Department of Medicine, Boston Children’s Hospital, affiliated with Harvard Medical School, Boston, MA 02115, USA</nlm:aff></affiliation></author><author><name sortKey="Natarajan, Sivakumar" sort="Natarajan, Sivakumar" uniqKey="Natarajan S" first="Sivakumar" last="Natarajan">Sivakumar Natarajan</name><affiliation><nlm:aff id="aff11">Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA</nlm:aff></affiliation></author><author><name sortKey="Allen, Susan J" sort="Allen, Susan J" uniqKey="Allen S" first="Susan J." last="Allen">Susan J. Allen</name><affiliation><nlm:aff id="aff11">Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA</nlm:aff></affiliation></author><author><name sortKey="Amirav, Israel" sort="Amirav, Israel" uniqKey="Amirav I" first="Israel" last="Amirav">Israel Amirav</name><affiliation><nlm:aff id="aff23">Pediatric Department, Ziv Medical Center, Faculty of Medicine, Bar IIan University, Safed, 13100 Israel</nlm:aff></affiliation></author><author><name sortKey="Wieczorek, Dagmar" sort="Wieczorek, Dagmar" uniqKey="Wieczorek D" first="Dagmar" last="Wieczorek">Dagmar Wieczorek</name><affiliation><nlm:aff id="aff24">Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstraße 55, 45122 Essen, Germany</nlm:aff></affiliation></author><author><name sortKey="Landwehr, Kerstin" sort="Landwehr, Kerstin" uniqKey="Landwehr K" first="Kerstin" last="Landwehr">Kerstin Landwehr</name><affiliation><nlm:aff id="aff25">Evangelisches Krankenhaus Bielefeld, Klinik für Kinder- und Jugendmedizin, 33617 Bielefeld, Nordrhein-Westfalen, Germany</nlm:aff></affiliation></author><author><name sortKey="Nielsen, Kim" sort="Nielsen, Kim" uniqKey="Nielsen K" first="Kim" last="Nielsen">Kim Nielsen</name><affiliation><nlm:aff id="aff26">Paediatric Pulmonary Service, Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, 2100 Copenhagen, Denmark</nlm:aff></affiliation></author><author><name sortKey="Schwerk, Nicolaus" sort="Schwerk, Nicolaus" uniqKey="Schwerk N" first="Nicolaus" last="Schwerk">Nicolaus Schwerk</name><affiliation><nlm:aff id="aff27">Department of Pneumology, Allergy, and Neonatology, University Children’s Hospital, Hannover Medical School, 30625 Hannover, Germany</nlm:aff></affiliation></author><author><name sortKey="Sertic, Jadranka" sort="Sertic, Jadranka" uniqKey="Sertic J" first="Jadranka" last="Sertic">Jadranka Sertic</name><affiliation><nlm:aff id="aff28">Zagreb Clinical Hospital Center, Clinical Institute of Laboratory Diagnosis, School of Medicine, Zagreb University, 10000 Zagreb, Croatia</nlm:aff></affiliation></author><author><name sortKey="Kohler, Gabriele" sort="Kohler, Gabriele" uniqKey="Kohler G" first="Gabriele" last="Köhler">Gabriele Köhler</name><affiliation><nlm:aff id="aff29">University Hospital Muenster, Department of Pathology, 48149 Muenster, Germany</nlm:aff></affiliation></author><author><name sortKey="Washburn, Joseph" sort="Washburn, Joseph" uniqKey="Washburn J" first="Joseph" last="Washburn">Joseph Washburn</name><affiliation><nlm:aff id="aff30">University of Michigan Comprehensive Cancer Center, University of Michigan, Ann Arbor, MI 48109, USA</nlm:aff></affiliation></author><author><name sortKey="Levy, Shawn" sort="Levy, Shawn" uniqKey="Levy S" first="Shawn" last="Levy">Shawn Levy</name><affiliation><nlm:aff id="aff31">HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL 35806, USA</nlm:aff></affiliation></author><author><name sortKey="Fan, Shuling" sort="Fan, Shuling" uniqKey="Fan S" first="Shuling" last="Fan">Shuling Fan</name><affiliation><nlm:aff id="aff32">Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48109, USA</nlm:aff></affiliation></author><author><name sortKey="Koerner Rettberg, Cordula" sort="Koerner Rettberg, Cordula" uniqKey="Koerner Rettberg C" first="Cordula" last="Koerner-Rettberg">Cordula Koerner-Rettberg</name><affiliation><nlm:aff id="aff33">Klinik für Kinder- und Jugendmedizin im St. Josef Hospital, Ruhr-Universität Bochum, 44791 Bochum, Germany</nlm:aff></affiliation></author><author><name sortKey="Amselem, Serge" sort="Amselem, Serge" uniqKey="Amselem S" first="Serge" last="Amselem">Serge Amselem</name><affiliation><nlm:aff id="aff34">Institut National de la Santé et de la Recherche Médicale Unité Mixte de Recherche S933, Université Pierre et Marie Curie (Paris 6), Paris 75012, France</nlm:aff></affiliation></author><author><name sortKey="Williams, David S" sort="Williams, David S" uniqKey="Williams D" first="David S." last="Williams">David S. Williams</name><affiliation><nlm:aff id="aff14">Departments of Ophthalmology and Neurobiology, Jules Stein Eye Institute, School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA</nlm:aff></affiliation></author><author><name sortKey="Mitchell, Brian J" sort="Mitchell, Brian J" uniqKey="Mitchell B" first="Brian J." last="Mitchell">Brian J. Mitchell</name><affiliation><nlm:aff id="aff13">Department of Cell and Molecular Biology, Northwestern University, Chicago, IL 60611, USA</nlm:aff></affiliation></author><author><name sortKey="Drummond, Iain A" sort="Drummond, Iain A" uniqKey="Drummond I" first="Iain A." last="Drummond">Iain A. Drummond</name><affiliation><nlm:aff id="aff12">Nephrology Division, Massachusetts General Hospital, Boston, MA 02114, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff35">Department of Genetics, Harvard Medical School, Boston, MA 02115, USA</nlm:aff></affiliation></author><author><name sortKey="Otto, Edgar A" sort="Otto, Edgar A" uniqKey="Otto E" first="Edgar A." last="Otto">Edgar A. Otto</name><affiliation><nlm:aff id="aff11">Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA</nlm:aff></affiliation></author><author><name sortKey="Omran, Heymut" sort="Omran, Heymut" uniqKey="Omran H" first="Heymut" last="Omran">Heymut Omran</name><affiliation><nlm:aff id="aff3">Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster, Germany</nlm:aff></affiliation></author><author><name sortKey="Knowles, Michael R" sort="Knowles, Michael R" uniqKey="Knowles M" first="Michael R." last="Knowles">Michael R. Knowles</name><affiliation><nlm:aff id="aff16">Department of Medicine, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA</nlm:aff></affiliation></author><author><name sortKey="Hildebrandt, Friedhelm" sort="Hildebrandt, Friedhelm" uniqKey="Hildebrandt F" first="Friedhelm" last="Hildebrandt">Friedhelm Hildebrandt</name><affiliation><nlm:aff id="aff2">Division of Nephrology, Department of Medicine, Boston Children’s Hospital, affiliated with Harvard Medical School, Boston, MA 02115, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff36">Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA</nlm:aff></affiliation></author></analytic><series><title level="j">American Journal of Human Genetics</title><idno type="ISSN">0002-9297</idno><idno type="eISSN">1537-6605</idno><imprint><date when="2013">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>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 <italic>ZMYND10</italic> in 14 families and mutations in the recently identified <italic>LRRC6</italic> in 13 families. We show that ZMYND10 and LRRC6 interact and that certain <italic>ZMYND10</italic> and <italic>LRRC6</italic> 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 <italic>ZMYND10</italic> result in the absence of the axonemal protein components DNAH5 and DNALI1 from respiratory cilia. Animal models support the association between <italic>ZMYND10</italic> and human PCD, given that <italic>zmynd10</italic> knockdown in zebrafish caused ciliary paralysis leading to cystic kidneys and otolith defects and that knockdown in <italic>Xenopus</italic> interfered with ciliogenesis. Our findings suggest that a cytoplasmic protein complex containing ZMYND10 and LRRC6 is necessary for motile ciliary function.</p></div></front></TEI><pmc article-type="brief-report"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Am J Hum Genet</journal-id><journal-id journal-id-type="iso-abbrev">Am. J. Hum. Genet</journal-id><journal-title-group><journal-title>American Journal of Human Genetics</journal-title></journal-title-group><issn pub-type="ppub">0002-9297</issn><issn pub-type="epub">1537-6605</issn><publisher><publisher-name>Elsevier</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">23891469</article-id><article-id pub-id-type="pmc">3738827</article-id><article-id pub-id-type="publisher-id">S0002-9297(13)00276-0</article-id><article-id pub-id-type="doi">10.1016/j.ajhg.2013.06.007</article-id><article-categories><subj-group subj-group-type="heading"><subject>Report</subject></subj-group></article-categories><title-group><article-title><italic>ZMYND10</italic> Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Zariwala</surname><given-names>Maimoona A.</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="fn1" ref-type="fn">37</xref></contrib><contrib contrib-type="author"><name><surname>Gee</surname><given-names>Heon Yung</given-names></name><xref rid="aff2" ref-type="aff">2</xref><xref rid="fn1" ref-type="fn">37</xref></contrib><contrib contrib-type="author"><name><surname>Kurkowiak</surname><given-names>Małgorzata</given-names></name><xref rid="aff3" ref-type="aff">3</xref><xref rid="aff4" ref-type="aff">4</xref><xref rid="aff5" ref-type="aff">5</xref><xref rid="fn1" ref-type="fn">37</xref></contrib><contrib contrib-type="author"><name><surname>Al-Mutairi</surname><given-names>Dalal A.</given-names></name><xref rid="aff6" ref-type="aff">6</xref><xref rid="aff7" ref-type="aff">7</xref></contrib><contrib contrib-type="author"><name><surname>Leigh</surname><given-names>Margaret W.</given-names></name><xref rid="aff8" ref-type="aff">8</xref></contrib><contrib contrib-type="author"><name><surname>Hurd</surname><given-names>Toby W.</given-names></name><xref rid="aff9" ref-type="aff">9</xref></contrib><contrib contrib-type="author"><name><surname>Hjeij</surname><given-names>Rim</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Dell</surname><given-names>Sharon D.</given-names></name><xref rid="aff10" ref-type="aff">10</xref></contrib><contrib contrib-type="author"><name><surname>Chaki</surname><given-names>Moumita</given-names></name><xref rid="aff11" ref-type="aff">11</xref></contrib><contrib contrib-type="author"><name><surname>Dougherty</surname><given-names>Gerard W.</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Adan</surname><given-names>Mohamed</given-names></name><xref rid="aff12" ref-type="aff">12</xref></contrib><contrib contrib-type="author"><name><surname>Spear</surname><given-names>Philip C.</given-names></name><xref rid="aff13" ref-type="aff">13</xref></contrib><contrib contrib-type="author"><name><surname>Esteve-Rudd</surname><given-names>Julian</given-names></name><xref rid="aff14" ref-type="aff">14</xref></contrib><contrib contrib-type="author"><name><surname>Loges</surname><given-names>Niki T.</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Rosenfeld</surname><given-names>Margaret</given-names></name><xref rid="aff15" ref-type="aff">15</xref></contrib><contrib contrib-type="author"><name><surname>Diaz</surname><given-names>Katrina A.</given-names></name><xref rid="aff11" ref-type="aff">11</xref></contrib><contrib contrib-type="author"><name><surname>Olbrich</surname><given-names>Heike</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Wolf</surname><given-names>Whitney E.</given-names></name><xref rid="aff16" ref-type="aff">16</xref></contrib><contrib contrib-type="author"><name><surname>Sheridan</surname><given-names>Eamonn</given-names></name><xref rid="aff17" ref-type="aff">17</xref></contrib><contrib contrib-type="author"><name><surname>Batten</surname><given-names>Trevor F.C.</given-names></name><xref rid="aff7" ref-type="aff">7</xref></contrib><contrib contrib-type="author"><name><surname>Halbritter</surname><given-names>Jan</given-names></name><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Porath</surname><given-names>Jonathan D.</given-names></name><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Kohl</surname><given-names>Stefan</given-names></name><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Lovric</surname><given-names>Svjetlana</given-names></name><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Hwang</surname><given-names>Daw-Yang</given-names></name><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Pittman</surname><given-names>Jessica E.</given-names></name><xref rid="aff8" ref-type="aff">8</xref></contrib><contrib contrib-type="author"><name><surname>Burns</surname><given-names>Kimberlie A.</given-names></name><xref rid="aff16" ref-type="aff">16</xref></contrib><contrib contrib-type="author"><name><surname>Ferkol</surname><given-names>Thomas W.</given-names></name><xref rid="aff18" ref-type="aff">18</xref></contrib><contrib contrib-type="author"><name><surname>Sagel</surname><given-names>Scott D.</given-names></name><xref rid="aff19" ref-type="aff">19</xref></contrib><contrib contrib-type="author"><name><surname>Olivier</surname><given-names>Kenneth N.</given-names></name><xref rid="aff20" ref-type="aff">20</xref></contrib><contrib contrib-type="author"><name><surname>Morgan</surname><given-names>Lucy C.</given-names></name><xref rid="aff21" ref-type="aff">21</xref></contrib><contrib contrib-type="author"><name><surname>Werner</surname><given-names>Claudius</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Raidt</surname><given-names>Johanna</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Pennekamp</surname><given-names>Petra</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Sun</surname><given-names>Zhaoxia</given-names></name><xref rid="aff22" ref-type="aff">22</xref></contrib><contrib contrib-type="author"><name><surname>Zhou</surname><given-names>Weibin</given-names></name><xref rid="aff11" ref-type="aff">11</xref></contrib><contrib contrib-type="author"><name><surname>Airik</surname><given-names>Rannar</given-names></name><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Natarajan</surname><given-names>Sivakumar</given-names></name><xref rid="aff11" ref-type="aff">11</xref></contrib><contrib contrib-type="author"><name><surname>Allen</surname><given-names>Susan J.</given-names></name><xref rid="aff11" ref-type="aff">11</xref></contrib><contrib contrib-type="author"><name><surname>Amirav</surname><given-names>Israel</given-names></name><xref rid="aff23" ref-type="aff">23</xref></contrib><contrib contrib-type="author"><name><surname>Wieczorek</surname><given-names>Dagmar</given-names></name><xref rid="aff24" ref-type="aff">24</xref></contrib><contrib contrib-type="author"><name><surname>Landwehr</surname><given-names>Kerstin</given-names></name><xref rid="aff25" ref-type="aff">25</xref></contrib><contrib contrib-type="author"><name><surname>Nielsen</surname><given-names>Kim</given-names></name><xref rid="aff26" ref-type="aff">26</xref></contrib><contrib contrib-type="author"><name><surname>Schwerk</surname><given-names>Nicolaus</given-names></name><xref rid="aff27" ref-type="aff">27</xref></contrib><contrib contrib-type="author"><name><surname>Sertic</surname><given-names>Jadranka</given-names></name><xref rid="aff28" ref-type="aff">28</xref></contrib><contrib contrib-type="author"><name><surname>Köhler</surname><given-names>Gabriele</given-names></name><xref rid="aff29" ref-type="aff">29</xref></contrib><contrib contrib-type="author"><name><surname>Washburn</surname><given-names>Joseph</given-names></name><xref rid="aff30" ref-type="aff">30</xref></contrib><contrib contrib-type="author"><name><surname>Levy</surname><given-names>Shawn</given-names></name><xref rid="aff31" ref-type="aff">31</xref></contrib><contrib contrib-type="author"><name><surname>Fan</surname><given-names>Shuling</given-names></name><xref rid="aff32" ref-type="aff">32</xref></contrib><contrib contrib-type="author"><name><surname>Koerner-Rettberg</surname><given-names>Cordula</given-names></name><xref rid="aff33" ref-type="aff">33</xref></contrib><contrib contrib-type="author"><name><surname>Amselem</surname><given-names>Serge</given-names></name><xref rid="aff34" ref-type="aff">34</xref></contrib><contrib contrib-type="author"><name><surname>Williams</surname><given-names>David S.</given-names></name><xref rid="aff14" ref-type="aff">14</xref></contrib><contrib contrib-type="author"><name><surname>Mitchell</surname><given-names>Brian J.</given-names></name><xref rid="aff13" ref-type="aff">13</xref></contrib><contrib contrib-type="author"><name><surname>Drummond</surname><given-names>Iain A.</given-names></name><xref rid="aff12" ref-type="aff">12</xref><xref rid="aff35" ref-type="aff">35</xref></contrib><contrib contrib-type="author"><name><surname>Otto</surname><given-names>Edgar A.</given-names></name><xref rid="aff11" ref-type="aff">11</xref></contrib><contrib contrib-type="author"><name><surname>Omran</surname><given-names>Heymut</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Knowles</surname><given-names>Michael R.</given-names></name><email>knowles@med.unc.edu</email><xref rid="aff16" ref-type="aff">16</xref><xref rid="cor2" ref-type="corresp">∗∗</xref></contrib><contrib contrib-type="author"><name><surname>Hildebrandt</surname><given-names>Friedhelm</given-names></name><email>friedhelm.hildebrandt@childrens.harvard.edu</email><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff36" ref-type="aff">36</xref><xref rid="cor1" ref-type="corresp">∗</xref></contrib></contrib-group><aff id="aff1"><label>1</label>Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA</aff><aff id="aff2"><label>2</label>Division of Nephrology, Department of Medicine, Boston Children’s Hospital, affiliated with Harvard Medical School, Boston, MA 02115, USA</aff><aff id="aff3"><label>3</label>Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster, Germany</aff><aff id="aff4"><label>4</label>Department of Molecular and Clinical Genetics, Institute of Human Genetics, Polish Academy of Sciences, Strzeszyńska 32, 60-479 Poznań, Poland</aff><aff id="aff5"><label>5</label>International Institute of Molecular and Cell Biology, Trojdena 4, 02-109 Warsaw, Poland</aff><aff id="aff6"><label>6</label>Department of Pathology, Faculty of Medicine, Health Sciences Center, Kuwait University, PO Box 24923 Safat, 13110, Kuwait</aff><aff id="aff7"><label>7</label>Leeds Institute for Genetics Health and Therapeutics, Faculty of Medicine and Health, University of Leeds, Leeds LS2 9JT, UK</aff><aff id="aff8"><label>8</label>Department of Pediatrics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA</aff><aff id="aff9"><label>9</label>Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK</aff><aff id="aff10"><label>10</label>Department of Pediatrics, The Hospital for Sick Children, University of Toronto, ON M5G1X8, Canada</aff><aff id="aff11"><label>11</label>Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA</aff><aff id="aff12"><label>12</label>Nephrology Division, Massachusetts General Hospital, Boston, MA 02114, USA</aff><aff id="aff13"><label>13</label>Department of Cell and Molecular Biology, Northwestern University, Chicago, IL 60611, USA</aff><aff id="aff14"><label>14</label>Departments of Ophthalmology and Neurobiology, Jules Stein Eye Institute, School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA</aff><aff id="aff15"><label>15</label>Seattle Children’s Hospital, School of Medicine, University of Washington, Seattle, WA 98105, USA</aff><aff id="aff16"><label>16</label>Department of Medicine, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA</aff><aff id="aff17"><label>17</label>Leeds Institute of Molecular Medicine, Wellcome Trust Brenner Building, St. James’s University Hospital, Leeds LS9 7TF, UK</aff><aff id="aff18"><label>18</label>Department of Pediatrics, School of Medicine, Washington University in St. Louis, St. Louis, MO 63110, USA</aff><aff id="aff19"><label>19</label>Department of Pediatrics, School of Medicine, University of Colorado, Aurora, CO 80045, USA</aff><aff id="aff20"><label>20</label>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892, USA</aff><aff id="aff21"><label>21</label>Department of Respiratory Medicine, Concord Hospital, Concord 2139, Australia</aff><aff id="aff22"><label>22</label>Department of Genetics, Yale University, New Haven, CT 06520, USA</aff><aff id="aff23"><label>23</label>Pediatric Department, Ziv Medical Center, Faculty of Medicine, Bar IIan University, Safed, 13100 Israel</aff><aff id="aff24"><label>24</label>Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstraße 55, 45122 Essen, Germany</aff><aff id="aff25"><label>25</label>Evangelisches Krankenhaus Bielefeld, Klinik für Kinder- und Jugendmedizin, 33617 Bielefeld, Nordrhein-Westfalen, Germany</aff><aff id="aff26"><label>26</label>Paediatric Pulmonary Service, Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, 2100 Copenhagen, Denmark</aff><aff id="aff27"><label>27</label>Department of Pneumology, Allergy, and Neonatology, University Children’s Hospital, Hannover Medical School, 30625 Hannover, Germany</aff><aff id="aff28"><label>28</label>Zagreb Clinical Hospital Center, Clinical Institute of Laboratory Diagnosis, School of Medicine, Zagreb University, 10000 Zagreb, Croatia</aff><aff id="aff29"><label>29</label>University Hospital Muenster, Department of Pathology, 48149 Muenster, Germany</aff><aff id="aff30"><label>30</label>University of Michigan Comprehensive Cancer Center, University of Michigan, Ann Arbor, MI 48109, USA</aff><aff id="aff31"><label>31</label>HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL 35806, USA</aff><aff id="aff32"><label>32</label>Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48109, USA</aff><aff id="aff33"><label>33</label>Klinik für Kinder- und Jugendmedizin im St. Josef Hospital, Ruhr-Universität Bochum, 44791 Bochum, Germany</aff><aff id="aff34"><label>34</label>Institut National de la Santé et de la Recherche Médicale Unité Mixte de Recherche S933, Université Pierre et Marie Curie (Paris 6), Paris 75012, France</aff><aff id="aff35"><label>35</label>Department of Genetics, Harvard Medical School, Boston, MA 02115, USA</aff><aff id="aff36"><label>36</label>Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA</aff><author-notes><corresp id="cor1"><label>∗</label>Corresponding author <email>friedhelm.hildebrandt@childrens.harvard.edu</email></corresp><corresp id="cor2"><label>∗∗</label>Corresponding author <email>knowles@med.unc.edu</email></corresp><fn id="fn1"><label>37</label><p>These authors contributed equally to this work</p></fn></author-notes><pub-date pub-type="ppub"><day>08</day><month>8</month><year>2013</year></pub-date><volume>93</volume><issue>2</issue><fpage>336</fpage><lpage>345</lpage><history><date date-type="received"><day>7</day><month>3</month><year>2013</year></date><date date-type="rev-recd"><day>21</day><month>5</month><year>2013</year></date><date date-type="accepted"><day>6</day><month>6</month><year>2013</year></date></history><permissions><copyright-statement>© 2013 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved.</copyright-statement><copyright-year>2013</copyright-year><copyright-holder>The American Society of Human Genetics</copyright-holder></permissions><abstract><p>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 <italic>ZMYND10</italic> in 14 families and mutations in the recently identified <italic>LRRC6</italic> in 13 families. We show that ZMYND10 and LRRC6 interact and that certain <italic>ZMYND10</italic> and <italic>LRRC6</italic> 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 <italic>ZMYND10</italic> result in the absence of the axonemal protein components DNAH5 and DNALI1 from respiratory cilia. Animal models support the association between <italic>ZMYND10</italic> and human PCD, given that <italic>zmynd10</italic> knockdown in zebrafish caused ciliary paralysis leading to cystic kidneys and otolith defects and that knockdown in <italic>Xenopus</italic> interfered with ciliogenesis. Our findings suggest that a cytoplasmic protein complex containing ZMYND10 and LRRC6 is necessary for motile ciliary function.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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