Myopathy phenotype in transgenic mice expressing mutated PABPN1 as a model of oculopharyngeal muscular dystrophy

Human Molecular Genetics

Volumn 13, Issue 2, 2004, Pages 181-190

  Hino, Hirotake ^a,b   Araki, Kimi ^a   Uyana, Eiichiro ^b   Takeya, Motohiro ^b   Araki, Masatake ^a   Yoshinobu, Kumiko ^a   Miike, Koichiro ^a   Kawazoe, Yasuhiro ^a   Maeda, Yasushi ^b   Uchino, Makoto ^b   Yamamura, Ken Ichi ^a  

^a KUMAMOTO UNIVERSITY   (Japan)

^b KUMAMOTO UNIV SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; POLYADENYLIC ACID BINDING PROTEIN; POLYADENYLIC ACID BINDING PROTEIN 2; UNCLASSIFIED DRUG;

AGING; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CELL NUCLEUS INCLUSION BODY; CLINICAL FEATURE; CONTROLLED STUDY; DYSPHAGIA; EYELID MUSCLE; FEMALE; GENE EXPRESSION; LIMB DISEASE; MALE; MOLECULAR GENETICS; MOUSE; MUSCLE ATROPHY; MUSCLE FATIGUE; MUSCLE NECROSIS; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; MYOPATHY; NICK END LABELING; NONHUMAN; OCULOPHARYNGEAL MUSCULAR DYSTROPHY; PHARYNX; PHENOTYPE; PRIORITY JOURNAL; PROTEIN AGGREGATION; PTOSIS; SKELETAL MUSCLE; TRANSGENIC MOUSE;

AGE FACTORS; ANIMALS; CELL NUCLEUS; DNA FRAGMENTATION; HUMANS; MICE; MICE, TRANSGENIC; MICROSCOPY, ELECTRON; MUSCLE FIBERS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHY, OCULOPHARYNGEAL; PHARYNGEAL MUSCLES; PHENOTYPE; POLY(A)-BINDING PROTEIN I; PROMOTER REGIONS (GENETICS);

ANIMALIA; MUS MUSCULUS;

EID: 1642555777     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddh017     Document Type: Article

References (38)

1. Taylor, E.W. (1915) Progressive vagus-glossopharyngeal paralysis with ptosis: a contribution to the group of family disease. J. Nerv. Ment. Disord., 42, 129-139.
2. Victor, M., Hayes, R. and Adams, R.D. (1962) Oculopharyngeal muscular dystrophy: a familial disease of late life characterized by dysphagia and progressive ptosis of the eyelids. New Engl. J. Med., 267, 1267-1272.
3. Barbeau, A. (1966) The syndrome of hereditary late onset ptosis and dysphagia in French Canada. In Kuhn, E. (ed.), Progressive Muskeldystrophie. Myotonie. Myasthenie. Springer, Berlin, pp. 102-109.
4. Tome, F.M. and Fardeau, M. (1994) Oculopharyngeal muscular dystrophy. In Engel, A.G. and Franzini-Armstrong, C. (eds), Myology, 2nd edn. McGraw-Hill, New York, pp. 1233-1245.
5. Bouchard J.P., Brais, B., Brunet, D., Gould. P.V. and Rouleau, G.A. (1997) Recent studies on oculopharyngeal muscular dystrophy in Quebec. Neuromusc. Disord., 7, S22-S29.
6. Tome, F.M. and Fardeau, M. (1980) Nuclear inclusions in oculopharyngeal dystrophy. Acta Neuropathol., 49, 85-87.
7. Uyama, E., Nohira, O., Chateau, D., Tokunaga, M., Uchino, M., Okabe, T., Ando, M. and Tome, F.M. (1996) Oculopharyngeal muscular dystrophy in two unrelated Japanese families. Neurology, 46, 773-778.
8. Tome, F.M.S., Chateau, D., Helbling-Leclerc, A. and Fardeau, M. (1997) Morphological changes in muscle fibers in oculopharyngeal muscular dystrophy. Neuromusc. Disord., 7, S63-S69.
9. Brais, B., Bouchard, J.P., Xie, Y.G., Rochefort, D.L., Chretien, N., Tome, F.M., Lafreniere, R.G., Rommens, J.M., Uyama, E., Nohira, O. et al. (1998) Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nat. Genet., 18, 164-167.
10. Scacheri, P.C., Garcia, C., Hebert, R. and Hoffman, E.P. (1999) Unique PABP2 mutations in 'Cajuns' suggest multiple founders of oculopharyngeal muscular dystrophy in populations with French ancestry. Am. J. Med. Genet., 86, 477-481.
11. Nakamoto, M., Nakano, S., Kawashima, S., Ihara, M., Nishimura, Y., Shinde, A. and Kakizuka, A. (2002) Unequal crossing-over in unique PABP2 mutations in Japanese patients. Arch. Neurol., 59, 474-477.
12. van der Sluijs, B.M., van Engelen, B.G. and Hoefsloot, L.H. (2003) Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene. Hum. Mutat., 21, 553.
13. Brais, B., Rouleau, G.A., Bouchard, J.P., Fardeau, M. and Tome, F.M. (1999) Oculopharyngeal muscular dystrophy. Semin. Neurol., 19, 59-66.
14. 9 mutation in the PABP2 gene. Neurology, 55, 1267-1270.
15. Becher, M.W., Morrison, L., Davis, L.E., Maki, W.C., King, M.K., Bicknell, J.M., Reinert, B.L., Bartolo, C. and Bear, D.G. (2001) Oculopharyngeal muscular dystrophy in Hispanic New Mexicans. JAMA, 286, 2437-2440.
16. Ross, A.C. (1997) Intranuclear neuronal inclusions: a common pathogenic mechanism for glutamine mechanism for glutamine-repeat neurodegenerative disease? Neuron, 19, 1147-1150.
17. Taylor, J.P., Hardy, J. and Fischbeck, K.H. (2002) Toxic proteins in neurodegenerative disease. Science, 296, 1991-1995.
18. Calado, A., Tome, F.M.S., Brais, B., Rouleau, G.A., Kuhn, U., Wahle, E. and Carmo-Fonseca, M. (2000) Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA. Hum. Mol. Genet., 9, 2321-2328.
19. Uyama, E., Tsukahara, T., Goto, K., Kurano, Y., Ogawa, M., Kim, Y.J., Uchino, M. and Arahata, K. (2000) Nuclear accumulation of expanded PABP2 gene product in oculopharyngeal muscular dystrophy. Muscle Nerve, 23, 1549-1554.
20. Becher, M.W., Kotzuk, J.A., Davis, L.E. and Bear, D.G. (2000) Intranuclear inclusions in oculopharyngeal muscular dystrophy contain poly(A) binding protein 2. Ann. Neurol., 48, 812-815.
21. Shanmugam, V., Dion, P., Rochefort, D., Laganiere, J., Brais, B. and Rouleau, G.A. (2000) PABP2 polyalanine tract expansion causes intranuclear inclusions in oculopharyngeal muscular dystrophy. Ann. Neural., 48, 798-802.
22. Bao, Y.P., Cook, L.J., O'Donovan, D., Uyama, E. and Rubinsztein D.C. (2002) Mammalian, yeast, bacterial, and chemical chaperones reduce aggregate formation and death in a cell model of oculopharyngeal muscular dystrophy. J. Biol. Chem., 277, 12263-12269.
23. Fan, X., Dion, P., Laganiere, J., Brais, B. and Rouleau, G.A. (2001) Oligomerization of polyalanine expanded PABP2 facilitates nuclear protein aggregation that is associated with cell death. Hum. Mol. Genet., 10, 2341-2351.
24. Klement , I.A., Skinner, P.J., Kaytor, M.D., Yi, H., Hersch, S.M., Clark, H.B., Zoghbi, H.Y. and Orr, H.T. (1998) Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice. Cell, 95, 41-53.
25. Schilling, G., Wood, J.D., Duan, K., Slunt, H.H., Gonzales, V., Yamada, M., Cooper, J.K., Margolis, R.L., Jenkins, N.A., Copeland N.G. et al. (1999) Nuclear accumulation of truncated atrophin-1 fragments in a transgenic mouse model of DRPLA. Neuron, 24, 275-286.
26. Rubinsztein, D.C. (2002) Lessons from animal models of Huntington's disease. Trends Genet., 18, 202-209.
27. Araki, K., Araki M., Miyazaki, J. and Yassalli P. (1995) Site-specific recombination of a transgene in fertilized eggs by transient expression of Cre recombinase. Proc. Natl Acad. Sci. USA, 92, 160-164.
28. Biancone, L., Araki, M., Araki, K., Vassalli, P. and Stamenkovic, I. (1996) Redirection of tumor metastasis by expression off-selection in vivo. J. Exp. Med., 183, 581-587.
29. Calado, A., Kutay, U., Kuhn, U., Wahle, E. and Carmo-Fonseca, M. (2000) Deciphering the cellular pathway for transport of poly(A)-binding protein II. RNA, 6, 245-256.
30. Krause, S., Fakan, S., Weis, K. and Wahle, E. (1994) Immunodetection of poly(A)-binding protein II in the cell nucleus. Exp. Cell Res., 214, 75-82.
31. Fan, X. and Rouleau, G.A. (2003) Progress in understanding the pathogenesis of oculopharyngeal muscular dystrophy. Can. J. Neurol. Sci., 30, 8-14.
32. Blumen, S.C., Brais, B., Korczyn, A.D., Medinsky, S., Chapman, J., Asherov, A., Nisipeanu, P., Codere, F., Bouchard, J.-P., Fardeau, M. et al. (1999) Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease. Ann. Neurol., 46, 115-118.
33. Tidball, J.G., Albrecht, D.E., Lokensgard, B.E. and Spencer, M.J. (1995) Apoptosis precedes necrosis of dystrophin-deficient muscle. J. Cell Sci., 108, 2197-2204.
34. Sandri, M., Minetti, C., Pedemonte, M. and Carrano, U. (1998) Apoptotic myonuclei in human Duchenne muscular dystrophy. Lab. Invest., 78, 1005-1016.
35. Seale, P., Sabourin, L. A., Girgis-Gabardo, A., Mansouri, A., Gruss, P. and Rudnicki, A.M. (2000) Pax7 is required for the specification of myogenic satellite cells. Cell, 102, 777-786.
36. Kim, Y.J., Noguchi, S., Hayashi, Y.K., Tsukahara, T., Shimizu, T. and Arahata, K. (2001) The product of an oculopharyngeal muscular dystrophy gene, poly(A)-binding protein 2, interacts with SKIP and stimulates muscle-specific gene expression. Hum. Mol. Genet., 15, 1129-1139.
37. Miyazaki, J., Takaki, S., Araki K., Tashiro F., Tominaga A., Takatsu, K. and Yamamura, K. (1989) Expression vector system based on the chicken beta-actin promoter directs efficient production of interleukin-5. Gene, 79, 269-277.
38. Hogan, B., Beddington, R., Costantini, F. and Lacy, E. (1994) Manipulating the Mouse Embryo. A Laboratory Manual. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.