ORBi: de Nijs Laurence - EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminus

Reference : EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spi...


	Document type :	Scientific journals : Article
	Discipline(s) :	Human health sciences : Oncology
	To cite this reference:	http://hdl.handle.net/2268/27603

Title :	EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminus
Language :	English
Author, co-author :	de Nijs, Laurence [Université de Liège - ULg > Département des sciences biomédicales et précliniques > Biochimie et physiologie humaine et pathologique >]
	Lakaye, Bernard [Université de Liège - ULg > Département des sciences biomédicales et précliniques > Biochimie et physiologie humaine et pathologique >]
	Coumans, Bernard [Université de Liège - ULg > > CNCM/ Centre fac. de rech. en neurobiologie cell. et moléc. >]
	Leon, Christine [Université de Liège - ULg > > CNCM/ Centre fac. de rech. en neurobiologie cell. et moléc. >]
	Ikeda, T. [> > > >]
	Delgado-Escueta, A. V. [> > > >]
	Grisar, Thierry [Université de Liège - ULg > Département des sciences biomédicales et précliniques > Biochimie et physiologie humaine et pathologique]
	Chanas, G. [> > > >]
Publication date :	10-Sep-2006
Journal title :	Experimental Cell Research
Publisher :	Elsevier Inc
Volume :	312
Issue/season :	15
Pages :	2872-2879
Audience :	International
ISSN :	0014-4827
City :	San Diego
Keywords :	[en] EFHC1 ; juvenile myoclonic epilepsy ; mitosis ; mitotic spindle ; centrosome ; recombinant fusion proteins
Abstract :	[en] 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. (c) 2006 Elsevier Inc. All rights reserved.
Permalink :	http://hdl.handle.net/2268/27603
DOI :	10.1016/j.yexcr.2006.05.011

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