title: EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminus.
abstract: A novel gene, EFHC1, mutated in juvenile myoclonic epilepsy (JME) encodes a protein with three DM10 domains of unknown function and one putative EF-hand motif. To study the properties of EFHC1, we expressed EGFP-tagged protein in various cell lines. In interphase cells, the fusion protein was present in the cytoplasm and in the nucleus with specific accumulation at the centrosome. During mitosis EGFP-EFHC1 colocalized with the mitotic spindle, especially at spindle poles and with the midbody during cytokinesis. Using a specific antibody, we demonstrated the same distribution of the endogenous protein. Deletion analyses revealed that the N-terminal region of EFHC1 is crucial for the association with the mitotic spindle and the midbody. Our results suggest that EFHC1 could play an important role during cell division.
authors.affiliation: Center for Cellular and Molecular Neurobiology, University of Liège, Avenue de l'Hôpital 1, B-36, 4000 Liège, Belgium.
authors.forename: Laurence
authors.initials: L
authors.lastname: de Nijs
authors.forename: Bernard
authors.initials: B
authors.lastname: Lakaye
authors.forename: Bernard
authors.initials: B
authors.lastname: Coumans
authors.forename: Christine
authors.initials: C
authors.lastname: Léon
authors.forename: Takashi
authors.initials: T
authors.lastname: Ikeda
authors.forename: Antonio V
authors.initials: AV
authors.lastname: Delgado-Escueta
authors.forename: Thierry
authors.initials: T
authors.lastname: Grisar
authors.forename: Grazyna
authors.initials: G
authors.lastname: Chanas
mesh_terms: D000818:Animals; D019556:COS Cells; D002135:Calcium-Binding Proteins / Q000737:chemistry* / Q000235:genetics / Q000378:metabolism*; D002455:Cell Division; D002467:Cell Nucleus / Q000378:metabolism; D018385:Centrosome / Q000378:metabolism; D002522:Chlorocebus aethiops; D003593:Cytoplasm / Q000378:metabolism; D005455:Fluorescent Antibody Technique; D006367:HeLa Cells; D006801:Humans; D051379:Mice; D009154:Mutation; D020190:Myoclonic Epilepsy, Juvenile / Q000235:genetics; D041681:NIH 3T3 Cells; D011993:Recombinant Fusion Proteins / Q000235:genetics / Q000378:metabolism; D008941:Spindle Apparatus / Q000378:metabolism*; D014162:Transfection; D014407:Tumor Cells, Cultured
chemical_list: D002135:Calcium-Binding Proteins; C489648:EFHC1 protein, human; D011993:Recombinant Fusion Proteins