We want to understand how different RFX transcription factors are required
for ciliogenesis control and how they are involved in ciliary specialization in mouse tissues.
Depletion of dynamin - binding protein or Tuba, a guanine nucleotide exchange factor, disrupted renal
ciliogenesis in cell culture and led to abnormal kidney morphology in a Tuba knockdown zebrafish model of PKD.
Once the pathways underlying
impaired ciliogenesis in PKD are more fully understood, therapeutic interventions can be designed to disrupt those pathways.
Renal ciliogenesis occurs only when the packaged proteins are delivered to the Cdc42 - activated exocyst complex.
Transmission electron microscopy analysis of sampled ciliated cells and of ciliated cells
after ciliogenesis confirmed the diagnosis of primary ciliary dyskinesia.
Further elucidating the pathways that underlie
impaired ciliogenesis is an essential step in beginning to develop treatment options for PKD and other ciliopathies.»
It contributes to spindle assembly and orientation during mitosis and to
ciliogenesis in interphase.
While PCD may be suspected based on history, clinical signs, diagnostic imaging and endoscopy, final diagnosis requires the observation of ciliary structure abnormalities
after ciliogenesis (i.e. culture of ciliated cells) of biopsies of ciliated epithelium (i.e. the nasal, tracheal or bronchial mucosa) with the use of transmission electron microscopy.
Last, we are studying the functional diversification of RFX and ciliary proteins in
ciliogenesis and neuronal morphogenesis.
Drosophila Chibby is required for basal body formation and
ciliogenesis but not for wingless signaling.
Among them, there are genetic instability (mainly aneuploidy, a defect in chromosome number), defects in the symmetry of cell division (important for cell fate specification and tissue architecture) and impaired
ciliogenesis.
Much must go right for
ciliogenesis to occur.
In an article published online ahead of print on Feb. 19, 2015 in the Journal of Biological Chemistry (JBC), investigators at the Medical University of South Carolina (MUSC) and the Ralph H. Johnson VA Medical Center report findings from in vitro and in vivo studies that elucidate the mechanisms underlying the impaired
ciliogenesis and abnormal kidney development characteristic of polycystic kidney disease (PKD).
In the JBC article, Lipschutz and his MUSC coauthors go a step further — showing in cell culture and a zebrafish model that depletion of Tuba, a guanine nucleotide exchange factor required for Cdc42 activation, also disrupts renal
ciliogenesis.
Proteins necessary for
ciliogenesis are manufactured in the endoplasmic reticulum before traveling to the trans - Golgi network to be sorted into «zip - coded packages» or vesicles for transport to the cilia.