Abstract
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.
Publication types
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Animals
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Cell Movement / genetics*
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Cerebral Ventricles / metabolism*
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Cerebral Ventricles / physiopathology
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Cerebral Ventricles / ultrastructure
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Cerebrospinal Fluid / metabolism
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Cilia / metabolism*
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Cilia / ultrastructure
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Ependyma / abnormalities
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Ependyma / metabolism*
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Ependyma / ultrastructure
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Fluorescent Antibody Technique
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Gene Expression Regulation, Developmental / genetics
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Genetic Predisposition to Disease / genetics
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Hydrocephalus / genetics
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Hydrocephalus / metabolism
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Hydrocephalus / physiopathology
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Mice
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Mice, Knockout
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Mice, Transgenic
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Microfilament Proteins / genetics
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Microfilament Proteins / metabolism*
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Microscopy, Electron, Transmission
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Mutation / genetics
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Respiratory Mucosa / metabolism
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Respiratory Mucosa / physiopathology
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Respiratory Mucosa / ultrastructure
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Trachea / metabolism
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Trachea / physiopathology
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Trachea / ultrastructure
Substances
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Hydin protein, mouse
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Microfilament Proteins