Functional loss of Ccdc151 leads to hydrocephalus in a mouse model of primary ciliary dyskinesia.

ABSTRACT: Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder affecting normal structure and function of motile cilia, phenotypically manifested as chronic respiratory infections, laterality defects and infertility. Autosomal recessive mutations in genes encoding for different components of the ciliary axoneme have been associated with PCD in humans and in model organisms. The CCDC151 gene encodes for a coiled-coil axonemal protein that ensures correct attachment of outer dynein arm (ODA) complexes to microtubules. A correct arrangement of dynein arm complexes is required to provide the proper mechanical force necessary for cilia beat. Loss-of-function mutations in CCDC151 in humans leads to PCD disease with respiratory distress and defective left-right body asymme

SUBMITTER: Chiani F 

PROVIDER: S-EPMC6737950 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature