Abstract
Although ubiquitously present, the relevance of cilia for vertebrate development and health has long been underrated. However, the aberration or dysfunction of ciliary structures or components results in a large heterogeneous group of disorders in mammals, termed ciliopathies. The majority of human ciliopathy cases are caused by malfunction of the ciliary dynein motor activity, powering retrograde intraflagellar transport (enabled by the cytoplasmic dynein-2 complex) or axonemal movement (axonemal dynein complexes). Despite a partially shared evolutionary developmental path and shared ciliary localization, the cytoplasmic dynein-2 and axonemal dynein functions are markedly different: while cytoplasmic dynein-2 complex dysfunction results in an ultra-rare syndromal skeleto-renal phenotype with a high lethality, axonemal dynein dysfunction is associated with a motile cilia dysfunction disorder, primary ciliary dyskinesia (PCD) or Kartagener syndrome, causing recurrent airway infection, degenerative lung disease, laterality defects, and infertility. In this review, we provide an overview of ciliary dynein complex compositions, their functions, clinical disease hallmarks of ciliary dynein disorders, presumed underlying pathomechanisms, and novel developments in the field.
Highlights
Ubiquitously present, the relevance of cilia for vertebrate development and health has long been underrated
We focus on ciliary dynein motors intraflagellar transport (IFT) dynein and axonemal dyneins
Dynein related ciliopathies can be subdivided into two groups: IFT dynein dysfunction, which causes a group of non-motile cilia-based phenotypes summarized under short rib thoracic dysplasias, and axonemal dynein dysfunction, representing the most common cause for the ciliary motility defect, commonly known as primary ciliary dyskinesia (PCD)
Summary
Publisher’s Note: MDPI stays neutral with regard to jurisdictional claims in published maps and institutional affiliations. (2) Cavalier Smith opposed this claim by arguing that eukaryotic flagella are structurally different from prokaryotic flagella He proposed that the loss of the cell wall, a major characteristic of eukaryotes, acted as a selection pressure, resulting in the development of cytoskeletal structures with actin and tubulin, suggesting that the ancient flagellum might have formed via the perpendicular localization of a microtubule nucleation center in relation to the cell membrane [7]. The mother centriole is transformed into a basal body acting as an anchoring unit, allowing axonemal extension [10] Both motile and non-motile cilia are made up of a microtubule cytoskeleton arranged in an organized fashion.
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