Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia

Motile cilia and sperm flagella share an evolutionarily conserved axonemal structure. Their structural and/or functional defects are associated with primary ciliary dyskinesia (PCD), a genetic disease characterized by chronic respiratory-tract infections and in which most males are infertile due to asthenozoospermia. Among the well-characterized axonemal protein complexes, the outer dynein arms (ODAs), through ATPase activity of their heavy chains (HCs), play a major role for cilia and flagella beating.

Source: The American Journal of Human Genetics - June 5, 2019 Category: Genetics & Stem Cells Authors: Marjorie Whitfield, Lucie Thomas, Emilie Bequignon, Alain Schmitt, Laurence Stouvenel, Guy Montantin, Sylvie Tissier, Philippe Duquesnoy, Bruno Copin, Sandra Chantot, Florence Dastot, Catherine Faucon, Anne Laure Barbotin, Anne Loyens, Jean-Pierre Siffroi Tags: Report Source Type: research