期刊
FEBS LETTERS
卷 579, 期 3, 页码 819-822出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.febslet.2004.12.070
关键词
rib72; efhc1; primary cilia; immunofluorescence; Chlamydomonas
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. (C) 2005 Federation of European Biochemical Societies. Published by Elsevier B.V. All rights reserved.
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