title: The mouse ortholog of EFHC1 implicated in juvenile myoclonic epilepsy is an axonemal protein widely conserved among organisms with motile cilia and flagella.
abstract: The gene product of EFHC1 recently implicated in juvenile myoclonic epilepsy (JME) was found to be a homolog of Chlamydomonas axonemal protein Rib72, whose homologs are present in a wide variety of organisms that have motile cilia and flagella. Western blot analyses and immunofluorescence localization of the mouse ortholog mRib72-1/Efhc1 indicated that it is indeed abundantly present in sperm flagella and tracheal cilia but only in a small amount in the brain. It is not present in immotile primary cilia. These observations raise the possibility that malfunction of motile cilia is involved in the development of JME.
authors.affiliation: Department of Biological Sciences, Graduate School of Science, University of Tokyo, Hongo, Bunkyo-ku, Tokyo 113-0033, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Ikeda
authors.forename: Kazuho
authors.initials: K
authors.lastname: Ikeda
authors.forename: Masahiro
authors.initials: M
authors.lastname: Enomoto
authors.forename: Min Kyun
authors.initials: MK
authors.lastname: Park
authors.forename: Masafumi
authors.initials: M
authors.lastname: Hirono
authors.forename: Ritsu
authors.initials: R
authors.lastname: Kamiya
mesh_terms: D000818:Animals; D001483:Base Sequence; D015153:Blotting, Western; D002135:Calcium-Binding Proteins / Q000737:chemistry / Q000235:genetics / Q000378:metabolism*; D017931:DNA Primers; D019084:Fluorescent Antibody Technique, Indirect; D051379:Mice; D020190:Myoclonic Epilepsy, Juvenile / Q000378:metabolism*; D041681:NIH 3T3 Cells
chemical_list: D002135:Calcium-Binding Proteins; D017931:DNA Primers; C489648:EFHC1 protein, human