Transgenic mice harboring a full-length human mutant DRPLA gene exhibit age-dependent intergenerational and somatic instabilities of CAG repeats comparable with those in DRPLA patients

Human Molecular Genetics

Volumn 8, Issue 1, 1999, Pages 99-106

  Sato, Toshiya ^a,b   Oyake, Mutsuo ^a   Nakamura, Kenji ^c   Nakao, Kazuki ^c   Fukusima, Yoshimitsu ^d   Onodera, Osamu ^a   Igarashi, Shuichi ^a   Takano, Hiroki ^a   Kikugawa, Koki ^a   Ishida, Yoshinori ^a,b   Shimohata, Takayoshi ^a   Koide, Reiji ^a   Ikeuchi, Takeshi ^a   Tanaka, Hajime ^a   Futamura, Naonobu ^e   Matsumura, Ryusuke ^e   Takayanagi, Tetsuya ^e   Tanaka, Fumiaki ^f   Sobue, Gen ^f   Komure, Osamu ^g   Takahashi, Mie ^h   Sano, Akira ⁱ   Ichikawa, Yaeko ^j   Goto, Jun ^j   Kanazawa, Ichiro ^j   Katsuki, Motoya ^c   Tsuji, Shoji ^a   more..

^a NIIGATA UNIVERSITY   (Japan)

^b NIIGATA UNIVERSITY   (Japan)

^c UNIVERSITY OF TOKYO   (Japan)

^d SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^e NARA MEDICAL UNIVERSITY   (Japan)

^f NAGOYA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^g UTANO NATIONAL HOSPITAL   (Japan)

^h KOCHI MEDICAL SCHOOL   (Japan)

ⁱ EHIME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^j UNIVERSITY OF TOKYO   (Japan)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CELL DIVISION; DENTATORUBROPALLIDOLUYSIAN ATROPHY; GENE MUTATION; MOUSE; NONHUMAN; PRIORITY JOURNAL; SPERMATOGONIUM; TRANSGENIC MOUSE; TRINUCLEOTIDE REPEAT;

ADULT; AGING; ANIMALS; ATROPHY; DENTATE GYRUS; DISEASE MODELS, ANIMAL; FEMALE; GLOBUS PALLIDUS; HUMANS; MALE; MICE; MICE, TRANSGENIC; MIDDLE AGED; MOSAICISM; NERVE TISSUE PROTEINS; NEURODEGENERATIVE DISEASES; RED NUCLEUS; SPECIES SPECIFICITY; TRINUCLEOTIDE REPEAT EXPANSION;

MUS MUSCULUS;

EID: 0032907359     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.1.99     Document Type: Article

References (42)

1. Naito, H. and Oyanagi, S. (1982) Familial myoclonus epilepsy and choreoathetosis: hereditary dentatorubral-pallidoluysian atrophy. Neurology, 32, 798-807.
2. 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.
3. 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.
4. 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.
5. 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.
6. 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.W. and Zoghbi, H.Y. (1993) Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genet., 4, 221-226.
7. 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.
8. 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., Korenherg, 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.
9. 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.
10. Imbert, G., Saudou, F., Yvert, G., Devys, D., Trottier, Y., Garnier, J.-M., Weber, C., Mandel, J.-L., Cancel, G., Abbas, N., Dürr, 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.
11. 1A-voltage-dependent calcium channel. Nature Genet., 15, 62-69.
12. David, G., Abbas, N., Stevanin, G., Dürr, 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.
13. Telenius, H., Kremer, B., Goldberg, Y.P., Theilmann, J., Andrew, S.E., Zeisler, J., Adam, S., Greenberg, C., Ives, E.J., Clarke, L.A. and Hayden, M.R. (1994) Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm. Nature Genet., 6, 409-414.
14. Chong, S.S., McCall, A.E., Cota, J., Subramony, S.H., Orr, H.T., Hughes, M.R. and Zoghbi, H.Y. (1995) Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1. Nature Genet., 10, 344-350.
15. Ueno, S., Kondoh, K., Kotani, Y., Komure, O., Kuno, S., Kawai, J., Hazama, F. and Sano, A. (1995) Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA). Hum. Mol. Genet., 4, 663-666.
16. Takano, H., Onodera, O., Takahashi, H., Igarashi, S., Yamada, M., Oyake, M., Ikeuchi, T., Koide, R., Tanaka, H., Iwabuchi, K. and Tsuji, S. (1996) Somatic mosaicism of expanded CAG repeats in brains of patients with dentatorubral-pallidoluysian atrophy: cellular population-dependent dynamics of mitotic instability. Am. J. Hum. Genet., 58, 1212-1222.
17. Hashida, H., Goto, J., Kurisaki, H., Mizusawa, H. and Kanazawa, I. (1997) Brain regional differences in the expansion of a CAG repeat in the spinocerebellar ataxias: dentatorubnil-pallidoluysian atrophy. Machado-Joseph disease, and spinocerebellar ataxia type I. Ann. Neurol., 41, 505-511.
18. Ikeuchi, T., Onodera, O., Oyake, M., Koide, R., Tanaka, H. and Tsuji, S. (1995) Dentatorubral-pallidoluysian atrophy (DRPLA): close correlation of CAG repeat expansions with the wide spectrum of clinical presentations and prominent anticipation. Semin. Cell Biol., 6, 37-44.
19. Squitieri, F., Andrew, S.E., Goldberg, Y.P., Kremer, B., Spence, N., Zeisler, J., Nichol, K., Theilmann, J., Greenberg, J., Goto, J., Kanazawa, I., Vesa, J., Peltonen, L., Almqvist, E., Anvret, M., Telenius, H., Lin, B., Napolitano, G., Morgan, K., and Hayden, M.R. (1994) DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence. Hum. Mol. Genet., 3, 2103-2114.
20. n polymorphisms in the Huntington's disease (HD) gene provides an explanation for an apparent 'founder' HD haplotype. Hum. Mol. Genet., 4, 203-206.
21. Almqvist, E., Spence, N., Nichol, K., Andrew, S.E., Vesa, J., Peltonen, L., Anvret, M., Goto, J., Kanazawa, I., Goldberg, Y.P. and Hayden, M.R. (1995) Ancestral differences in the distribution of the Δ2642 glutamic acid polymorphism is associated with varying CAG repeat lengths on normal chromosomes: insights into the genetic evolution of Huntington disease. Hum. Mol. Genet., 4, 207-214.
22. Takiyama, Y., Igarashi, S., Rogaeva, E.A., Endo, K., Rogaev, E.I., Tanaka, H., Sherrington, R., Sanpei, K., Liang, Y., Saito, M., Tsuda, T., Takano, H., Ikeda, M., Lin, C., Chi, H., Kennedy, J.L., Lang, A.E., Wherrett, J.R., Segawa, M., Nomura, Y., Yuasa, T., Weissenbach, J., Yoshida, M., Nishizawa, M., Kidd, K.K., Tsuji, S. and St George-Hyslop, P.H. (1995) Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease. Hum. Mol. Genet., 4, 1137-1146.
23. Stevanin, G., Cancel, G., Didierjean, O., Dürr, A., Abbas, N., Cassa, E., Feingold, J., Agid, Y. and Brice, A. (1995) Linkage disequilibrium at the Machado-Joseph disease/spinal cerebellar ataxia 3 locus: evidence for a common founder effect in French and Portuguese-Brazilian families as well as a second ancestral Portuguese-Azorean mutation. Am. J. Hum. Genet., 57, 1247-1250.
24. Yanagisawa, H., Fujii, K., Nagafuchi, S., Nakahori, Y., Nakagome, Y., Akane, A., Nakamura, M., Sano, A., Komure, O., Kondo, I., Jin, D.K., Sørensen, S.A., Potter, N.T., Young, S.R., Nakamura, K., Nukina, N., Nagao, Y., Tadokoro, K., Okuyama, T., Miyashita, T., Inoue, T., Kanazawa, I. and Yamada, M. (1996) A unique origin and multistep process for the generation of expanded DRPLA triplet repeats. Hum. Mol. Genet., 5, 373-379.
25. Johansson, J., Forsgren, L., Sandgren, O., Brice, A., Holmgren, G. and Holmberg, M. (1998) Expanded CAG repeats in Swedish spinocerebellar ataxia type 7 (SCA7) patients: effect of CAG repeat length on the clinical manifestation. Hum. Mol. Genet., 7, 171-176.
26. Bingham, P.M., Scott, M.O., Wang, S., McPhaul, M.J., Wilson, E.M., Garbern, J.Y., Merry, D.E. and Fischbeck, K.H. (1995) Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice. Nature Genet., 9, 191-196.
27. Goldberg, Y.P., Kalchman, M.A., Metzler, M., Nasir, J., Zeisler, J., Graham, R., Koide, H.B., O'Kusky, J., Sharp, A.H., Ross, C.A., Jirik, F. and Hayden, M.R. (1996) Absence of disease phenotype and intergenerational stability of the CAG repeat in transgenic mice expressing the human Huntington disease transcript. Hum. Mol. Genet., 5, 177-185.
28. 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.
29. Mangiarini, L., Sathasivam, K., Mahal, A., Mott, R., Seller, M. and Bates, G.P. (1997) Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation. Nature Genet., 15, 197-200.
30. La Spada, A.R., Peterson, K.R., Meadows, S.A., McClain, M.E., Jeng, G., Chmelar, R.S., Haugen, H.A., Chen, K., Singer, M.J., Moore, D., Trask, B.J., Fischbeck, K.H., Clegg, C.H. and McKnight, G.S. (1998) Androgen receptor YAC transgenic mice carrying CAG 45 alleles show trinucleotide repeat instability. Hum. Mol. Genet., 7, 959-967.
31. Nagafuchi, S., Yanagisawa, H., Ohsaki, E., Shirayama, T., Tadokoro, K., Inoue, T. and Yamada, M. (1994) Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA). Nature Genet., 8, 177-182.
32. Komure, O., Sano, A., Nishino, N., Yamauchi, N., Ueno, S., Kondoh, K., Sano, N., Takahashi, M., Murayama, N., Kondo, I., Nagafuchi, S., Yamada, M. and Kanazawa, I. (1995) DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation. Neurology. 45, 143-149.
33. David, G., Dürr, A., Stevanin, G., Cancel, G., Abbas, N., Benomar, A., Belal, S., Lebre, A.-S., Abada-Bendib, M., Grid, D., Holmberg, M., Yahyaoui, M., Hentati, F., Chkili, T., Agid, Y. and Brice, A. (1998) Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7). Hum. Mol. Genet., 7, 165-170.
34. Gouw, L.G., Castañeda, M.A., McKenna, C.K., Digre, K.B., Pulst, S.-M., Perlman, S., Lee, M.S., Gomez, C., Fischbeck, K., Gagnon, D., Storey, E., Bird, T., Jeri, F.R. and Ptácek, L.J. (1998) Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission. Hum. Mol. Genet., 7, 525-532.
35. Ishida, Y., Sato, T., Takano, H. and Tsuji, S. (1996) Identification of neuron-specific enolase (NSE) gene near the dentatorubral-pallidoluysian atrophy (DRPLA) gene and its implication in neuronal degeneration. Am. J. Hum. Genet., 59 (suppl.), A265.
36. Kaytor, M.D., Burright, E.N., Duvick, L.A., Zoghbi, H.Y. and Or, H.T. (1997) Increased trinucleotide repeat instability with advanced maternal age. Hum. Mol. Genet., 6, 2135-2139.
37. Fairer, L.A., Cupples, L.A., Kiely, D.K., Conneally, P.M. and Myers, R.H. (1992) Inverse relationship between age at onset of Huntington disease and paternal age suggests involvement of genetic imprinting. Am. J. Hum. Genet., 50, 528-535.
38. Oakberg, E.F. (1956) A description of spermiogenesis in the mouse and its use in analysis of the cycle of the seminiferous epithelium and germ cell renewal. Am. J Anat., 99, 391-413.
39. Strachan, T. and Read, A.P. (1996) Human Molecular Genetics. BIOS Scientific Publishers, Oxford.
40. Hogan, B., Beddington, R., Costantini, F. and Lacy, E. (1994) Manipulating the Mouse Embryo: A Laboratory Manual, 2nd edn. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
41. Onodera, O., Oyake, M., Takano, H., Ikeuchi, T., Igarashi, S. and Tsuji, S. (1995) Molecular cloning of a full-length cDNA for dentatorubral-pallidoluysian atrophy and regional expressions of the expanded alleles in the CNS. Am. J. Hum. Genet., 57, 1050-1060.
42. Gondo, Y., Nakamura, K., Nakao, K., Sasaoka, T., Ito, K., Kimura, M. and Katsuki, M. (1994) Gene replacement of the p53 gene with the lacZ gene in mouse embryonic stem cells and mice by using two steps of homologous recombination. Biochem. Biophys. Res. Commun., 202, 830-837.