EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminus

Nijs, Laurence de; Lakaye, Bernard; Coumans, Bernard; Leon, Christine; Ikeda, Takashi; Delgado-Escueta, Antonio V; Grisar, Thierry; Chanas, Grazyna

doi:10.1016/j.yexcr.2006.05.011

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

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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:

Nijs, Laurence de ^[1]; Lakaye, Bernard ^[1]; Coumans, Bernard ^[1]; Leon, Christine ^[1]; Ikeda, Takashi ^[2]; Delgado-Escueta, Antonio V ^[3]; Grisar, Thierry ^[1]; Chanas, Grazyna ^[1]

Center for Cellular and Molecular Neurobiology, University of Liege, Avenue de l'Hopital 1, B-36, 4000 Liege (Belgium)
Department of Biological Sciences, Graduate School of Sciences, University of Tokyo, Hongo, Bunkyo-ku, Tokyo 113-0033 (Japan)
Epilepsy Genetics/Genomics Laboratories, Comprehensive Epilepsy Program, David Geffen School of Medicine at UCLA and VA GLAHS-West Los Angeles Medical Center, Los Angeles, CA 90073 (United States)

Publication Date:: Sun Sep 10 00:00:00 EDT 2006

OSTI Identifier:: 20858018

Resource Type:: Journal Article

Journal Name:: Experimental Cell Research

Additional Journal Information:: Journal Volume: 312; Journal Issue: 15; Other Information: DOI: 10.1016/j.yexcr.2006.05.011; PII: S0014-4827(06)00193-5; Copyright (c) 2006 Elsevier Science B.V., Amsterdam, The Netherlands, All rights reserved; Country of input: International Atomic Energy Agency (IAEA); Journal ID: ISSN 0014-4827

Country of Publication:: United States

Language:: English

Subject:: 60 APPLIED LIFE SCIENCES; ANTIBODIES; CYTOPLASM; EPILEPSY; GENES; JUVENILES; MITOSIS; PROTEINS

Citation Formats


                    Nijs, Laurence de, Lakaye, Bernard, Coumans, Bernard, Leon, Christine, Ikeda, Takashi, Delgado-Escueta, Antonio V, Grisar, Thierry, and Chanas, Grazyna. EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminus.  United States: N. p., 2006. 
        Web.  doi:10.1016/j.yexcr.2006.05.011.

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                    Nijs, Laurence de, Lakaye, Bernard, Coumans, Bernard, Leon, Christine, Ikeda, Takashi, Delgado-Escueta, Antonio V, Grisar, Thierry, & Chanas, Grazyna. EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminus.  United States.  https://doi.org/10.1016/j.yexcr.2006.05.011

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                    Nijs, Laurence de, Lakaye, Bernard, Coumans, Bernard, Leon, Christine, Ikeda, Takashi, Delgado-Escueta, Antonio V, Grisar, Thierry, and Chanas, Grazyna. 2006.  
        "EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminus".  United States.  https://doi.org/10.1016/j.yexcr.2006.05.011.

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@article{osti_20858018,

  title        = {EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminus},

  author       = {Nijs, Laurence de and Lakaye, Bernard and Coumans, Bernard and Leon, Christine and Ikeda, Takashi and Delgado-Escueta, Antonio V and Grisar, Thierry and Chanas, Grazyna},

  abstractNote = {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.},

  doi          = {10.1016/j.yexcr.2006.05.011},

  url          = {https://www.osti.gov/biblio/20858018},
  journal      = {Experimental Cell Research},

  issn         = {0014-4827},

  number       = 15,

  volume       = 312,

  place        = {United States},

  year         = {Sun Sep 10 00:00:00 EDT 2006},

  month        = {Sun Sep 10 00:00:00 EDT 2006}

}

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