Reference : EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic ...
Scientific journals : Article
Human health sciences : Oncology
http://hdl.handle.net/2268/27603
EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminus
English
de Nijs, Laurence mailto [Université de Liège - ULg > Département des sciences biomédicales et précliniques > Biochimie et physiologie humaine et pathologique >]
Lakaye, Bernard mailto [Université de Liège - ULg > Département des sciences biomédicales et précliniques > Biochimie et physiologie humaine et pathologique >]
Coumans, Bernard mailto [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 mailto [Université de Liège - ULg > Département des sciences biomédicales et précliniques > Biochimie et physiologie humaine et pathologique]
Chanas, G. [> > > >]
10-Sep-2006
Experimental Cell Research
Elsevier Inc
312
15
2872-2879
Yes (verified by ORBi)
International
0014-4827
San Diego
[en] EFHC1 ; juvenile myoclonic epilepsy ; mitosis ; mitotic spindle ; centrosome ; recombinant fusion proteins
[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.
http://hdl.handle.net/2268/27603
10.1016/j.yexcr.2006.05.011

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