Abstract
Chorea-acanthocytosis is a neurodegenerative disorder with peripheral red cell acanthocytosis1. Linkage of chorea-acanthocytosis to chromosome 9q21 has been found2. We refined the locus region and identified a previously unknown, full-length cDNA encoding a presumably structural protein, which we called chorein. We found a deletion in the coding region of the cDNA leading to a frame shift resulting in the production of a truncated protein in both alleles of patients and in single alleles of obligate carriers.
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Brin, M.F. in Handbook of Clinical Neurology Vol. 63 (ed. Goetz, C.G., Tanner, C.M. & Aminoff, M.J.) 271–299 (Elsevier Science Publishers, Amsterdam, The Netherlands, 1993).
Rubio, J.P. et al. Am. J. Hum. Genet. 61, 899–908 (1997).
Lathrop, G.M., Lalouel, J.M., Julier, C. & Ott, J. Proc. Natl. Acad. Sci. USA 81, 3443–3446 (1984).
Terwilliger, J.D. Am. J. Hum. Genet. 56, 777–787 (1995).
Rubio, J.P., Levy, E.R., Dobson-Stone, C. & Monaco, AP. Genomics 57, 84–93 (1999).
Nagase, T. et al. DNA Res. 6, 63–70 (1999).
Redding K, et al. Mol. Cell. Biol. 16, 6208–6217 (1996).
Stege, J.T., Laub, M.T. & Loomis, W.F. Dev. Genet. 25, 64–77 (1999).
Cavalli, G. et al. Ann. Ital. Med. Int. 10,. 249–252 (1995).
Faillace, R.T. et al. Ann. Intern. Med. 96, 616–617 (1982).
Acknowledgements
We thank the families for their participation; S. Fujita and M. Katsuki for discussions. This work was supported in part by a Grant-in-Aid for Cooperative Research from the Ministry of Education, Culture, Sports, Science and Technology, Japan.
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Ueno, Si., Maruki, Y., Nakamura, M. et al. The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis. Nat Genet 28, 121–122 (2001). https://doi.org/10.1038/88825
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DOI: https://doi.org/10.1038/88825
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