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

作者: Laurence de Nijs , Bernard Lakaye , Bernard Coumans , Christine Léon , Takashi Ikeda

DOI: 10.1016/J.YEXCR.2006.05.011

关键词:

摘要: 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 we expressed EGFP-tagged various cell lines. In interphase cells, fusion was present cytoplasm nucleus specific accumulation at centrosome. During mitosis EGFP-EFHC1 colocalized mitotic spindle, especially spindle poles midbody during cytokinesis. Using antibody, demonstrated same distribution endogenous protein. Deletion analyses revealed that N-terminal region EFHC1 is crucial for association midbody. Our results suggest could play an important role division.

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