Unveiling the role of CG41265, the Drosophila orthologue of the human Primary Ciliary Dyskinesia (PCD)-associated gene
| Componente | Categoria |
|---|---|
| Patrizio Dimitri | Aggiungi Tutor di riferimento (Professore o Ricercatore afferente allo stesso Dipartimento del Proponente) |
Primary ciliary dyskinesia (PCD; MIM# 244400) is a rare genetic disorder manifested with recurrent infections of respiratory tract and infertility. The abnormal ciliary motility causes deficient mucociliary transport leading to chronic respiratory infections of the upper and lower airways (i.e., sinusitis and bronchitis). Approximately half of the individuals with PCD displays a situs inversus (thereby defining the Kartagener syndrome), which results from dysfunction of motile embryonic nodal cilia. Moreover, male and female infertility can occur as a result of defective sperm flagella and oviduct cilia, respectively. In humans, mutations in more than 40 genes including the Coiled-Coil Domain Containing 40 (CCDC40) gene are associated with PCD.
Studies in Drosophila have helped to validate several PCD genes whose products are required for cytoplasmic pre-assembly of axonemal dynein motors. Despite that, experimental data about the CG41265 function, the Drosophila ortholoque of CCDC40, are still missing.
Therefore, to investigate the role of CG41265, I will exploit the RNA interference and CRISPR/Cas9 tools to trigger the protein loss of function.