TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella.

doi:10.1016/j.ajhg.2019.12.010

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Article

TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella.

American journal of human genetics - 6 Feb 2020

Thomas Lucie, Bouhouche Khaled, Whitfield Marjorie, Thouvenin Guillaume, Coste Andre, Louis Bruno, Szymanski Claire, Bequignon Emilie, Papon Jean-François, Castelli Manon, Lemullois Michel, Dhalluin Xavier, Drouin-Garraud Valérie, Montantin Guy, Tissier Sylvie, Duquesnoy Philippe, Copin Bruno, Dastot Florence, Couvet Sandrine, Barbotin Anne-Laure, Faucon Catherine, Honore Isabelle, Maitre Bernard, Beydon Nicole, Tamalet Aline, Rives Nathalie, Koll France, Escudier Estelle, Tassin Anne-Marie, Touré Aminata, Mitchell Valérie, Amselem Serge, Legendre Marie

Abstract excerpt

Cilia and flagella are evolutionarily conserved organelles whose motility relies on the outer and inner dynein arm complexes (ODAs and IDAs). Defects in ODAs and IDAs result in primary ciliary dyskinesia (PCD), a disease characterized by recurrent airway infections and male infertility. PCD mutations in assembly factors have been shown to cause a combined ODA-IDA defect, affecting both cilia and flagella. We...

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PMID: 31978331
DOI: 10.1016/j.ajhg.2019.12.010
PMCID: PMC7011118

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