scholarly journals Loss-of-Function Mutations in LRRC6 , a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms, Cause Primary Ciliary Dyskinesia

2012 ◽  
Vol 91 (5) ◽  
pp. 958-964 ◽  
Author(s):  
Esther Kott ◽  
Philippe Duquesnoy ◽  
Bruno Copin ◽  
Marie Legendre ◽  
Florence Dastot-Le Moal ◽  
...  
2017 ◽  
Author(s):  
Inga M. Höben ◽  
Rim Hjeij ◽  
Heike Olbrich ◽  
Gerard W. Dougherty ◽  
Tabea Menchen ◽  
...  

AbstractPrimary ciliary dyskinesia (PCD) is characterized by chronic airway disease, male infertility and randomization of the left/right body axis caused by defects of motile cilia and sperm flagella. We identified loss-of-function mutations in the open reading frame C11ORF70 in PCD individuals from five distinct families. Transmission electron microscopy analyses and high resolution immunofluorescence microscopy demonstrate that loss-of-function mutations in C11ORF70 cause immotility of respiratory cilia and sperm flagella, respectively, due to loss of axonemal outer (ODAs) and inner dynein arms (IDAs), indicating that C11ORF70 is involved in cytoplasmic assembly of dynein arms. Expression analyses of C11ORF70 showed that C11ORF70 is expressed in ciliated respiratory cells and that the expression of C11ORF70 is upregulated during ciliogenesis, similar to other previously described cytoplasmic dynein arm assembly factors. Furthermore, C11ORF70 shows an interaction with cytoplasmic ODA/IDA assembly factor DNAAF2, supporting our hypothesis that C11ORF70 is a novel preassembly factor involved in the pathogenesis of PCD. The identification of a novel genetic defect that causes PCD and male infertility is of great clinical importance as well as for genetic counselling.


2018 ◽  
Vol 102 (5) ◽  
pp. 973-984 ◽  
Author(s):  
Inga M. Höben ◽  
Rim Hjeij ◽  
Heike Olbrich ◽  
Gerard W. Dougherty ◽  
Tabea Nöthe-Menchen ◽  
...  

Cilia ◽  
2012 ◽  
Vol 1 (S1) ◽  
Author(s):  
M Schmidts ◽  
J Freshour ◽  
NT Loges ◽  
A Dritsoula ◽  
D Antony ◽  
...  

2012 ◽  
Vol 44 (6) ◽  
pp. 714-719 ◽  
Author(s):  
Jennifer R Panizzi ◽  
Anita Becker-Heck ◽  
Victoria H Castleman ◽  
Dalal A Al-Mutairi ◽  
Yan Liu ◽  
...  

2013 ◽  
Vol 93 (3) ◽  
pp. 561-570 ◽  
Author(s):  
Esther Kott ◽  
Marie Legendre ◽  
Bruno Copin ◽  
Jean-François Papon ◽  
Florence Dastot-Le Moal ◽  
...  

2013 ◽  
Vol 34 (3) ◽  
pp. 462-472 ◽  
Author(s):  
Dinu Antony ◽  
Anita Becker-Heck ◽  
Maimoona A. Zariwala ◽  
Miriam Schmidts ◽  
Alexandros Onoufriadis ◽  
...  

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