Structural insights into the cause of human RSPH4A primary ciliary dyskinesia.

ABSTRACT: Cilia and flagella are evolutionarily conserved eukaryotic organelles involved in cell motility and signaling. In humans, mutations in Radial Spoke Head Component 4A (RSPH4A) can lead to primary ciliary dyskinesia (PCD), a life-shortening disease characterized by chronic respiratory tract infections, abnormal organ positioning, and infertility. Despite its importance for human health, the location of RSPH4A in human cilia has not been resolved, and the structural basis of RSPH4A^-/- PCD remains elusive. Here, we present the native three-dimensional structure of RSPH4A^-/- human respiratory cilia using samples collected noninvasively from a PCD patient. Using cryo-electron tomography (cryo-ET) and subtomogram averaging, we compared the structures of

SUBMITTER: Zhao Y 

PROVIDER: S-EPMC8351563 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature