Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia.

American Journal of Human Genetics
Philippe DuquesnoyS Amselem

Abstract

Cilia and flagella are evolutionarily conserved structures that play various physiological roles in diverse cell types. Defects in motile cilia result in primary ciliary dyskinesia (PCD), the most prominent ciliopathy, characterized by the association of respiratory symptoms, male infertility, and, in nearly 50% of cases, situs inversus. So far, most identified disease-causing mutations involve genes encoding various ciliary components, such those belonging to the dynein arms that are essential for ciliary motion. Following a candidate-gene approach based on data from a mutant strain of the biflagellated alga Chlamydomonas reinhardtii carrying an ODA7 defect, we identified four families with a PCD phenotype characterized by the absence of both dynein arms and loss-of-function mutations in the human orthologous gene called LRRC50. Functional analyses performed in Chlamydomonas reinhardtii and in another flagellated protist, Trypanosoma brucei, support a key role for LRRC50, a member of the leucine-rich-repeat superfamily, in cytoplasmic preassembly of dynein arms.

References

Jul 23, 1976·Science·B A Afzelius
May 1, 1991·The Journal of Cell Biology·D R Mitchell, Y Kang
Dec 1, 1981·The Journal of Cell Biology·L T Haimo, J L Rosenbaum
Sep 3, 1998·Molecular Biology of the Cell·M E Fowkes, D R Mitchell
Dec 26, 2001·Current Opinion in Structural Biology·B Kobe, A V Kajava
Oct 31, 2002·American Journal of Respiratory and Critical Care Medicine·Estelle EscudierAndré Coste
Apr 23, 2003·Molecular and Biochemical Parasitology·Seth RedmondMark C Field
Sep 19, 2003·The Journal of Allergy and Clinical Immunology·Mark A ChilversChristopher O'Callaghan
Dec 6, 2003·American Journal of Respiratory and Critical Care Medicine·Peadar G NooneMichael R Knowles
Jun 16, 2005·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·Albert C M Ong, Bart Wagner
Oct 19, 2005·Cellular and Molecular Life Sciences : CMLS·N MatsushimaR H Kretsinger
Aug 3, 2006·Journal of Cell Science·Carole BranchePhilippe Bastin
Oct 3, 2006·Annual Review of Physiology·Peter Satir, Søren Tvorup Christensen
Dec 30, 2006·The Journal of Biological Chemistry·Judy FreshourDavid R Mitchell
Mar 16, 2007·Proceedings of the National Academy of Sciences of the United States of America·Bénédicte DuriezSerge Amselem
Oct 24, 2007·Nature Reviews. Molecular Cell Biology·Manfred FliegaufHeymut Omran
Apr 4, 2008·Journal of the American Society of Nephrology : JASN·Ellen van RooijenFreek J van Eeden
Apr 15, 2008·Cellular and Molecular Life Sciences : CMLS·J BellaS C Lovell
Dec 5, 2008·Nature·Heymut OmranHiroyuki Takeda
Jan 17, 2009·Current Topics in Developmental Biology·Basudha Basu, Martina Brueckner
Jan 17, 2009·Current Topics in Developmental Biology·Neeraj SharmaBradley K Yoder

❮ Previous
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Citations

Jun 23, 2010·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Chunlei GaoDavid R Mitchell
Apr 20, 2011·Biologie aujourd'hui·Laetitia VincensiniPhilippe Bastin
May 31, 2012·Médecine sciences : M/S·Denise Escalier, Aminata Touré
Mar 6, 2012·Nature Genetics·Hannah M MitchisonDavid R Mitchell
Jan 25, 2014·Current Allergy and Asthma Reports·Manuel MataCarmen Carda
Apr 19, 2015·Human Reproduction Update·Charles CouttonPierre F Ray
Nov 12, 2016·The European Respiratory Journal·Jane S LucasClaudia E Kuehni
Dec 12, 2017·Human Molecular Genetics·Verity L HartillColin A Johnson
Mar 28, 2019·American Journal of Respiratory Cell and Molecular Biology·Ewa ZietkiewiczMichal Witt
Sep 12, 2020·Cellular and Molecular Life Sciences : CMLS·Lance Lee, Lawrence E Ostrowski
Jul 17, 2013·Proceedings of the National Academy of Sciences of the United States of America·Lu ZhaoZhaoxia Sun
Feb 1, 2011·Biology of the Cell·Laetitia VincensiniPhilippe Bastin
Oct 30, 2014·Journal of Medical Genetics·Małgorzata KurkowiakMichał Witt
Sep 20, 2018·American Journal of Respiratory Cell and Molecular Biology·Joffrey MiannéJohn De Vos
Dec 12, 2018·Protein and Peptide Letters·Norio MatsushimaRobert H Kretsinger
Dec 21, 2018·Circulation·Mary Ella PierpontUNKNOWN American Heart Association Council on Cardiovascular Disease in the Young; Council on Cardiovascular and Stroke Nursing; and
Mar 10, 2020·FEMS Microbiology Reviews·Morgan BeebyDavid R Mitchell
Jul 9, 2020·Journal of Assisted Reproduction and Genetics·Minghan SunYongxin Ma
Jul 9, 2020·Human Genetics·M J XavierJ A Veltman
Feb 1, 2011·Biology of the Cell·Rania GhossoubAlexandre Benmerah
Jul 23, 2013·Nature Genetics·Aarti TarkarHeymut Omran
Sep 19, 2014·PLoS Genetics·Christine P DigglePleasantine Mill
May 16, 2014·European Journal of Human Genetics : EJHG·Jillian P CaseySally A Lynch
Apr 14, 2016·Current Opinion in Pediatrics·Carlos E Milla
Jun 5, 2016·G3 : Genes - Genomes - Genetics·Seungshin HaDavid R Beier
Aug 11, 2015·Expert Reviews in Molecular Medicine·Hao DengSheng Deng
Nov 11, 2017·The European Respiratory Journal·Gert Jan VanakenSophie Christin-Maitre
Nov 3, 2016·Cold Spring Harbor Perspectives in Biology·Stephen M King
Sep 11, 2013·Annual Review of Genetics·Shiaulou Yuan, Zhaoxia Sun
Jun 22, 2011·Cytoskeleton·Dennis R DienerJoel L Rosenbaum

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