caa a22 4500 397574967 CHVBK 20180308164853.0 cr unu---uuuuu 161202e199608 xx s 000 0 eng 10.1093/hmg/5.8.1093 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.8.1093 Subcellular Localization of the Huntington's Disease Gene Product in Cell Lines by Immunofluorescence and Biochemical Subcellular Fractionation [Elektronische Daten] [Karien E. De Rooij, Josephine C. Dorsman, Magda A. Smoor, Johan T. Den Dunnen, Gert-Jan B. Van Ommen] Huntington's disease is a progressive neurodegenerative disorder, which is caused by expansion of a polymorphic (CAG)n repeat in the coding region of the Huntington's disease gene. The function of huntingtin has not been elucidated so far. Accordingly, detailed subcellular localization studies remain useful. In an immunohistochemical study, we have reported huntingtin to be present in the cytoplasm of cells in the majority of the tissues studied. In addition, we detected a signal in the nucleus of cells in some tissues, including neuronal cells. We have further extended these studies in various mammalian cell lines, using a panel of (affinity-purified) polyclonal huntingtin antibodies in immunofluorescence, confocal laser scanning microscopy and biochemical subcellular fractionation studies. In mouse embryonic fibroblasts, human skin fibroblasts and in mouse neuroblastoma cells huntingtin was present in the cytoplasm. All five antibodies, directed against different parts of huntingtin, also showed a signal in the nucleus. This signal could be competed by the original antigen. The localization of huntingtin in both cytoplasm and nucleus, was confirmed by biochemical subcellular fractionation studies. However, in most other studies, a nuclear location for huntingtin has not been found. Our results suggest, however, that besides its function(s) in the cytoplasm, a nuclear function of huntingtin at some stages of differentiation or in some phases of the cell cycle may not be excluded. © 1996 Oxford University Press De Rooij Karien E. MGC-Department of Human Genetics, Leiden University, Leiden, The Netherlands aut Dorsman Josephine C. MGC-Laboratory of Molecular Carcinogenesis, Leiden University, Leiden, The Netherlands aut Smoor Magda A. MGC-Department of Human Genetics, Leiden University, Leiden, The Netherlands aut Den Dunnen Johan T. MGC-Department of Human Genetics, Leiden University, Leiden, The Netherlands aut Van Ommen Gert-Jan B. MGC-Department of Human Genetics, Leiden University, Leiden, The Netherlands aut Human Molecular Genetics Oxford University Press 5/8(1996-08), 1093-1099 0964-6906 5:8<1093 1996 5 hmg https://doi.org/10.1093/hmg/5.8.1093 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.8.1093 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- De Rooij Karien E. MGC-Department of Human Genetics, Leiden University, Leiden, The Netherlands aut NATIONALLICENCE 700 1- Dorsman Josephine C. MGC-Laboratory of Molecular Carcinogenesis, Leiden University, Leiden, The Netherlands aut NATIONALLICENCE 700 1- Smoor Magda A. MGC-Department of Human Genetics, Leiden University, Leiden, The Netherlands aut NATIONALLICENCE 700 1- Den Dunnen Johan T. MGC-Department of Human Genetics, Leiden University, Leiden, The Netherlands aut NATIONALLICENCE 700 1- Van Ommen Gert-Jan B. MGC-Department of Human Genetics, Leiden University, Leiden, The Netherlands aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/8(1996-08), 1093-1099 0964-6906 5:8<1093 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford