Abstract
Primary ciliary dyskinesia (PCD) is a hereditary genetic disorder caused by the lack of motile cilia or the assembxly of dysfunctional ones. This rare human disease affects 1 out of 10,000–20,000 individuals and is caused by mutations in at least 50 genes. The past twenty years brought significant progress in the identification of PCD-causative genes and in our understanding of the connections between causative mutations and ciliary defects observed in affected individuals. These scientific advances have been achieved, among others, due to the extensive motile cilia-related research conducted using several model organisms, ranging from protists to mammals. These are unicellular organisms such as the green alga Chlamydomonas, the parasitic protist Trypanosoma, and free-living ciliates, Tetrahymena and Paramecium, the invertebrate Schmidtea, and vertebrates such as zebrafish, Xenopus, and mouse. Establishing such evolutionarily distant experimental models with different levels of cell or body complexity was possible because both basic motile cilia ultrastructure and protein composition are highly conserved throughout evolution. Here, we characterize model organisms commonly used to study PCD-related genes, highlight their pros and cons, and summarize experimental data collected using these models.
Highlights
A considerable number of human diseases are caused by genetic mutations that can be passed down from an individual carrying the mutation to the offspring
Before starting the Primary ciliary dyskinesia (PCD)-related research using model organisms, it is important to ask a simple question: which model will be the most suitable to conduct the planned experiments? In this review, we briefly characterize model organisms commonly used to study the outcome of the mutation(s) in PCD-related genes, highlighting their pros and cons, and summarize the collected experimental data showing the relationship between gene mutation and its phenotypic outcome in humans and model organisms
To a lesser extent than Chlamydomonas, Trypanosoma was used as a model in both basic studies aiming to discover the role of ciliary proteins and in verifying that genes identified as causative in PCD-affected individuals are responsible for cilia/flagella motility alterations
Summary
A considerable number of human diseases are caused by genetic mutations that can be passed down from an individual carrying the mutation to the offspring. An immotile kinocilium assembled by cochlear hair cells is accompanied by numerous highly organized actin-containing mechanosensory protrusions called stereocilia or stereovilli and plays a role in their proper arrangement [5,6]. In contrast to these monociliated cells, olfactory sensory neurons are multiciliated and form up to 10–30 olfactory cilia (that are usually 50–60 μm long) on the dendritic knob [5,7]. In typical motile cilia and sperm flagella, both peripheral and central microtubules serve as docking sites for numerous multiprotein complexes, forming a highly organized pattern along the entire cilium length (Figure 1). Before starting the PCD-related research using model organisms, it is important to ask a simple question: which model will be the most suitable to conduct the planned experiments? In this review, we briefly characterize model organisms commonly used to study the outcome of the mutation(s) in PCD-related genes, highlighting their pros and cons, and summarize the collected experimental data showing the relationship between gene mutation and its phenotypic outcome in humans and model organisms
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