Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus

Motile cilia move body fluids and gametes and the beating of cilia lining the airway epithelial surfaces ensures that they are kept clear and protected from inhaled pathogens and consequent respiratory infections. Dynein motor proteins provide mechanical force for cilia beating. Dynein mutations are a common cause of primary ciliary dyskinesia (PCD), an inherited condition characterized by deficient mucociliary clearance and chronic respiratory disease coupled with laterality disturbances and subfertility.

Source: The American Journal of Human Genetics - November 21, 2018 Category: Genetics & Stem Cells Authors: Mahmoud R. Fassad, Amelia Shoemark, Marie Legendre, Robert A. Hirst, France Koll, Pierrick le Borgne, Bruno Louis, Farheen Daudvohra, Mitali P. Patel, Lucie Thomas, Mellisa Dixon, Thomas Burgoyne, Joseph Hayes, Andrew G. Nicholson, Thomas Cullup, Lucy Jen Tags: Report Source Type: research