A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: A new polyglutamine disease?

Human Molecular Genetics

Volumn 8, Issue 11, 1999, Pages 2047-2053

  Koide, Reiji ^a   Kobayashi, Shigeichi ^b   Shimohata, Takayoshi ^a   Ikeuchi, Takeshi ^a   Maruyama, Mieko ^a   Saito, Masaaki ^a   Yamada, Mitsunori ^a   Takahashi, Hitoshi ^a   Tsuji, Shoji ^a  

^a NIIGATA UNIVERSITY   (Japan)

^b SHIZUOKA CHILDREN'S HOSPITAL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

MUTANT PROTEIN; TATA BINDING PROTEIN;

ADOLESCENT; ARTICLE; ATAXIA; CASE REPORT; CONTROLLED STUDY; FEMALE; HUMAN; HUMAN CELL; INTELLECTUAL IMPAIRMENT; LYMPHOBLASTOID CELL LINE; NERVE DEGENERATION; NEUROPATHOLOGY; PRIORITY JOURNAL; TRINUCLEOTIDE REPEAT;

ADOLESCENT; ATAXIA; CHROMOSOMES, HUMAN, PAIR 6; COGNITION DISORDERS; DNA-BINDING PROTEINS; DWARFISM; EPILEPSY, ABSENCE; FEMALE; GENE DUPLICATION; HAPLOTYPES; HUMANS; MAGNETIC RESONANCE IMAGING; MUSCLE SPASTICITY; PEDIGREE; PEPTIDES; TATA-BOX BINDING PROTEIN; TRANSCRIPTION FACTORS; TRINUCLEOTIDE REPEATS;

EID: 0032885515     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.11.2047     Document Type: Article

References (30)

1. La Spada, A.R., Wilson, E.M., Lubahn, D.B., Harding, A.E. and Fischbeck, K.H. (1991) Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature, 352, 77-79.
2. Huntington's Disease Collaborative Research Group (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell, 72, 971-983.
3. Orr, H.T., Chung, M.Y., Banfi, S., Kwiatkowski, T.J. Jr, Servadio, A., Beaudet, A.L., McCall, A.E., Duvick, L.A., Ranum, L.P. and Zoghbi, H.Y. (1993) Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genet., 4, 221-226.
4. Koide, R., Ikeuchi, T., Onodera, O., Tanaka, H., Igarashi, S., Endo, K., Takahashi, H., Kondo, R., Ishikawa, A., Hayashi, T., Saito, M., Tomoda, A., Miike, T., Naito, H., Ikuta, F. and Tsuji, S. (1994) Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nature Genet., 6, 9-13.
5. Nagafuchi, S., Yanagisawa, H., Sato, K., Shirayama, T., Ohsaki, E., Bundo, M., Takeda, T., Tadokoro, K., Kondo, I., Murayama, N., Tanaka, Y., Kikushima, H., Umino, K., Kurosawa, H., Furukawa, T., Nihei, K., Inoue, T., Sano, A., Komure, O., Takahashi, M., Yoshizawa, T., Kanazawa, I. and Yamada, M. (1994) Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nature Genet., 6, 14-18.
6. Kawaguchi, Y., Okamoto, T., Taniwaki, M., Aizawa, M., Inoue, M., Katayama, S., Kawakami, H., Nakamura, S., Nishimura, M., Akiguchi, I., Kimura, J., Narumiya, S. and Kakizuka, A. (1994) CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nature Genet., 8, 221-228.
7. Pulst, S.M., Nechiporuk, A., Nechiporuk, T., Gispert, S., Chen, X.N., Lopes-Cendes, I., Pearlman, S., Starkman, S., Orozco-Diaz, G., Lunkes, A., DeJong, P., Rouleau, G.A., Auburger, G., Korenberg, J.R., Figueroa, C. and Sahba, S. (1996) Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nature Genet., 14, 269-276.
8. Sanpei, K., Takano, H., Igarashi, S., Sato, T., Oyake, M., Sasaki, H., Wakisaka, A., Tashiro, K., Ishida, Y., Ikeuchi, T., Koide, R., Saito, M., Sato, A., Tanaka, T., Hanyu, S., Takiyama, Y., Nishizawa, M., Shimizu, N., Nomura, Y., Segawa, M., Iwabuchi, K., Eguchi, I., Tanaka, H., Takahashi, H. and Tsuji, S. (1996) Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nature Genet., 14, 277-284.
9. Imbert, G., Saudou, F., Yvert, G., Devys, D., Trottier, Y., Garnier, J.M., Weber, C., Mandel, J.L., Cancel, G., Abbas, N., Durr, A., Didierjean, O., Stevanin, G., Agid, Y. and Brice, A. (1996) Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nature Genet., 14, 285-291.
10. Zhuchenko, O., Bailey, J., Bonnen, P., Ashizawa, T., Stockton, D.W., Amos, C., Dobyns, W.B., Subramony, S.H., Zoghbi, H.Y. and Lee, C.C. (1997) Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nature Genet., 15, 62-69.
11. David, G., Abbas, N., Stevanin, G., Durr, A., Yvert, G., Cancel, G., Weber, C., Imbert, G., Saudou, F., Antoniou, E., Drabkin, H., Gemmill, R., Giunti, P., Benomar, A., Wood, N., Ruberg, M., Agid, Y., Mandel, J.L. and Brice, A. (1997) Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nature Genet., 17, 65-70.
12. Paterson, M.G., Tanese, N., Pugh, B.F. and Tjian, R. (1990) Functional domains and upstream activation properties of cloned human TATA binding protein. Science, 248, 1625-1630.
13. Schreiber, E., Tobler, A., Malipiero, U., Schaffner, W. and Fontana, A. (1993) cDNA cloning of human N-Oct3, a nervous-system specific POU domain transcription factor binding to the octamer DNA motif. Nucleic Acids Res., 21, 253-258.
14. Gerber, H.P., Seipel, K., Georgiev, O., Hofferer, M., Hug, M., Rusconi, S. and Schaffner, W. (1994) Transcriptional activation modulated by homopolymeric glutamine and proline stretches. Science, 263, 808-811.
15. Imbert, G., Trottier, Y., Beckmann, J. and Mandel, J.L. (1994) The gene for the TATA binding protein (TBP) that contains a highly polymorphic protein coding CAG repeat maps to 6q27. Genomics, 21, 667-668.
16. Rubinsztein, D.C., Leggo, J., Crow, T.J., DeLisi, L.E., Walsh, C., Jain, S. and Paykel, E.S. (1996) Analysis of polyglutamine-coding repeats in the TATA-binding protein in different human populations and in patients with schizophrenia and bipolar affective disorder. Am. J. Med. Genet., 67, 495-498.
17. Jones, A.L., Middle, F., Guy, C., Spurlock, G., Cairns, N.J., McGuffin, P., Craddock, N., Owen. M. and O'Donovan, M.C. (1997) No evidence for expanded polyglutamine sequences in bipolar disorder and schizophrenia. Mol. Psychiatry, 2, 478-482.
18. Japanese Government (1998) Journal of Health and Welfare Statistics, Japan, p. 357.
19. Trottier, Y., Lutz, Y., Stevanin, G., Imbert, G., Devys, D., Cancel, G., Saudou, F., Weber, C., David, G., Tora, L. et al. (1995) Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. Nature, 378, 403-406.
20. Gostout, B., Liu, Q. and Sommer, S.S. (1993) 'Cryptic' repeating triplets of purines and pyrimidines (cRRY (i)) are frequent and polymorphic: analysis of coding cRRY (i) in the proopiomelanocortin (POMC) and TATA-binding protein (TBP) genes. Am. J. Hum. Genet., 52, 1182-1190.
21. Andrew, S.E., Goldberg, Y.P. and Hayden, M.R. (1997) Rethinking genotype and phenotype correlations in polyglutamine expansion disorders. Hum. Mol. Genet., 6, 2005-2010.
22. Ikeda, H., Yamaguchi, M., Sugai, S., Aze, Y., Narumiya, S. and Kakizuka, A. (1996) Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo. Nature Genet., 13, 196-202.
23. n repeat in sporadic Huntington's disease. Nature Genet., 5, 168-173.
24. Stevanin, G., Giunti, P., David, G., Belal, S., Durr, A., Ruberg, M., Wood, N. and Brice, A. (1998) De novo expansion of intermediate alleles in spinocerebellar ataxia 7. Hum. Mol. Genet., 7, 1809-1813.
25. Lupski, J.R., Chance, P.F. and Garcia, C.A. (1993) Inherited primary peripheral neuropathies. Molecular genetics and clinical implications of CMT1A and HNPP. JAMA, 270, 2326-2330.
26. Gordenin, D.A., Kunkel, T.A. and Resnick, M.A. (1997) Repeat expansion - all in a flap? Nature Genet., 16, 116-118.
27. Schweitzer, J.K. and Livingston, D.M. (1998) Expansion of CAG repeat tracts are frequently in a yeast mutant defective in Okazaki fragment maturation. Hum Mol. Genet., 7, 69-74.
28. Hu, X., Burghes, A.H.M., Bulman, D.E., Peter, N.R. and Worton, R.G. (1989) Evidence for mutation by unequal sister chromatide exchange in the Duchenne muscular dystrophy gene. Am. J. Hum. Genet., 44, 855-863.
29. Lieberman, A.P., Robitaille, Y., Trojanowski, J.Q., Dickson, D.W. and Fischbeck, K.H. (1998) Polyglutamine-containing aggregates in neuronal intranuclear inclusion disease. Lancet, 351, 884.
30. Polymeropoulos, M.H., Rath, D.S., Xiao, H. and Merril, C.R. (1991) Trinucleotide repeat polymorphism at the human transcription factor IID gene. Nucleic Acids Res., 19, 4307.