EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminus
- 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)
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.
- OSTI ID:
- 20858018
- Journal Information:
- Experimental Cell Research, Vol. 312, 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); ISSN 0014-4827
- Country of Publication:
- United States
- Language:
- English
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