Mutations in Hydin impair ciliary motility in mice
Department of Cell Biology; Department of Physiology
Animals; Cell Movement; Cerebral Ventricles; Cerebrospinal Fluid; Cilia; Ependyma; Fluorescent Antibody Technique; Gene Expression Regulation, Developmental; Genetic Predisposition to Disease; Hydrocephalus; Mice; Mice, Knockout; Mice, Transgenic; Microfilament Proteins; Microscopy, Electron, Transmission; Mutation; Respiratory Mucosa; Trachea
Chlamydomonas reinhardtii hydin is a central pair protein required for flagellar motility, and mice with Hydin defects develop lethal hydrocephalus. To determine if defects in Hydin cause hydrocephalus through a mechanism involving cilia, we compared the morphology, ultrastructure, and activity of cilia in wild-type and hydin mutant mice strains. The length and density of cilia in the brains of mutant animals is normal. The ciliary axoneme is normal with respect to the 9 + 2 microtubules, dynein arms, and radial spokes but one of the two central microtubules lacks a specific projection. The hydin mutant cilia are unable to bend normally, ciliary beat frequency is reduced, and the cilia tend to stall. As a result, these cilia are incapable of generating fluid flow. Similar defects are observed for cilia in trachea. We conclude that hydrocephalus in hydin mutants is caused by a central pair defect impairing ciliary motility and fluid transport in the brain.
DOI of Published Version
J Cell Biol. 2008 Feb 11;180(3):633-43. Epub 2008 Feb 4. Link to article on publisher's site
The Journal of cell biology
Lechtreck K, Delmotte P, Robinson ML, Sanderson MJ, Witman GB. (2008). Mutations in Hydin impair ciliary motility in mice. Cell and Developmental Biology Publications. https://doi.org/10.1083/jcb.200710162. Retrieved from https://escholarship.umassmed.edu/cellbiology_pp/38