Nuclear localization of the spinocerebellar ataxia type 7 protein, ataxin-7.
Spinocerebellar ataxia type 7 (SCA7) belongs to a group of neurological disorders caused by a CAG repeat expansion in the coding region of the associated gene. To gain insight into the pathogenesis of SCA7 and possible functions of ataxin-7, we examined the subcellular localization of ataxin-7 in transfected COS-1 cells using SCA7 cDNA clones with different CAG repeat tract lengths. In addition to a diffuse distribution throughout the nucleus, ataxin-7 associated with the nuclear matrix and the nucleolus. The location of the putative SCA7 nuclear localization sequence (NLS) was confirmed by fusing an ataxin-7 fragment with the normally cytoplasmic protein chicken muscle pyruvate kinase. Mutation of this NLS prevented protein from entering the nucleus. Thus, expanded ataxin-7 may carry out its pathogenic effects in the nucleus by altering a matrix-associated nuclear structure and/or by disrupting nucleolar function.[1]References
- Nuclear localization of the spinocerebellar ataxia type 7 protein, ataxin-7. Kaytor, M.D., Duvick, L.A., Skinner, P.J., Koob, M.D., Ranum, L.P., Orr, H.T. Hum. Mol. Genet. (1999) [Pubmed]
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