Structural insights into the cause of human <i>RSPH4A</i> primary ciliary dyskinesia
Yanhe Zhao, Justine M. Pinskey, Jianfeng Lin, Weining Yin, Patrick R. Sears, M. Leigh Anne Daniels, Maimoona A. Zariwala, Michael R. Knowles, Lawrence E. Ostrowski, Daniela Nicastro
Abstract
A growing number of ciliopathy-associated genes have been identified, but how they cause ciliary dysfunction is often unclear. Using cryo-electron tomography, we characterize the structural defects in patient cilia lacking radial spoke protein RSPH4A, revealing the underlying molecular defects and providing new insight into ciliary disease etiology.
Topics & Concepts
Primary ciliary dyskinesiaCiliopathyCiliumBiologyMotile ciliumCiliopathiesCell biologyGeneDiseaseGeneticsBioinformaticsPhenotypePathologyInternal medicineBronchiectasisLungMedicineGenetic and Kidney Cyst DiseasesRenal and related cancersNuclear Structure and Function