Journal Article

Nuclear Localization of the Spinocerebellar Ataxia Type 7 Protein, Ataxin-7

Michael D. Kaytor, Lisa A. Duvick, Pamela J. Skinner, Michael D. Koob, Laura P. W. Ranum and Harry T. Orr

in Human Molecular Genetics

Volume 8, issue 9, pages 1657-1664
Published in print September 1999 | ISSN: 0964-6906
Published online September 1999 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/8.9.1657
Nuclear Localization of the Spinocerebellar Ataxia Type 7 Protein, Ataxin-7

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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 SCA7nuclear 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 matrixassociated nuclear structure and/or by disrupting nucleolar function.

Journal Article.  5186 words.  Illustrated.

Subjects: Genetics and Genomics

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