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Biochem Biophys Res Commun. 2008 Feb 29;367(1):226-33. doi: 10.1016/j.bbrc.2007.12.126. Epub 2007 Dec 28.

Sequential expression of Efhc1/myoclonin1 in choroid plexus and ependymal cell cilia.

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Laboratory for Neurogenetics, RIKEN Brain Science Institute, 2-1 Hirosawa, Wako-Shi, Saitama 351-0198, Japan.


EFHC1 is a gene mutated in patients with idiopathic epilepsies, and encodes the myoclonin1 protein. We here report the distribution of myoclonin1 in mouse. Immunohistochemical analyses revealed that the myoclonin1 first appeared at the roof of hindbrain at embryonic day 10 (E10), and moved on to choroid plexus at E14. At E18, it moved to ventricle walls and disappeared from choroid plexus. From neonatal to adult stages, myoclonin1 was concentrated in the cilia of ependymal cells at ventricle walls. At adult stages, myoclonin1 expression was also observed at tracheal epithelial cilia in lung and at sperm flagella in testis. Specificities of these immunohistochemical signals were verified by using Efhc1-deficient mice as negative controls. Results of Efhc1 mRNA in situ hybridization were also consistent with the immunohistochemical observations. Our findings raise "choroid plexusopathy" or "ciliopathy" as intriguing candidate cascades for the molecular pathology of epilepsies caused by the EFHC1 mutations.

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