CAG repeat instability, cryptic sequence variation and pathogeneticity: Evidence from different loci

Philosophical Transactions of the Royal Society B: Biological Sciences

Volumn 354, Issue 1386, 1999, Pages 1089-1094

  Frontali, M ^a   Novelletto, A ^b   Annesi, G ^c   Jodice, C ^b  

^a CNR   (Italy)

^b UNIVERSITY OF ROME TOR VERGATA   (Italy)

^c Ist di Med Sperimentale e Biotech   (Italy)

Author keywords

CACNA1A gene; Episodic ataxia type 2; Huntington's disease; Spinocerebellar ataxia type 1 (SCA1); Spinocerebellar ataxia type 6 (SCA6)

Indexed keywords

ATAXIA;

EID: 0033614762     PISSN: 09628436     EISSN: None     Source Type: Journal    
DOI: 10.1098/rstb.1999.0464     Document Type: Article

References (38)

1. Brinkmann, B., Klintschar, M., Neuhuber, F., Huhne, J. & Rolf, B. 1998 Mutation rate in human microsatellites: influence of the structure and length of the tandem repeat. Am. J. Hum. Genet. 62, 1408-1415.
2. Chong, S. S., McCall, A. E., Cota, J., Subramony, S. H., Orr, H. T., Hughes, M. R. & Zoghbi, H. Y. 1995 Gametic and somatic tissue-specific heterogeneity of the expanded scal cag repeat in spinocerebellar ataxia type 1. Nature Genet. 10, 344-350.
3. Chung, M., Ranum, L. P. W., Duvick, L. A., Servadio, A., Zoghbi, H. Y. & Orr, H. T. 1993 Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type 1. Nature Genet. 5, 254-258.
4. Davies, S. W., Turmaine, M., Cozens, B. A., DiFiglia, M., Sharp, A. H., Ross, C. A., Scherzinger, E., Wanker, E. E., Mangiarini, L. & Bates, G. P. 1997 Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation. Cell 90, 537-548.
5. DiFiglia, M., Sapp, K. O., Davies, S. W., Bates, G. P., Vonsattel, J. P. & Aronin, N. 1997 Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain. Science 227, 1990-1993.
6. Di Rienzo, A., Donnelly, P., Toomajian, C., Sisk, B., Hill, A., Petzl-Erler, M. L., Haines, G. K. & Barch, D. H. 1998 Heterogeneity of microsatellite mutations within and between loci, and implications for human demographic histories. Genetics 148, 1269-1284.
7. Dubourg, O., Durr, A., Cancel, G., Stevanin, G., Chneiweiss, H., Penet, C., Agid, Y. & Brice, A. 1995 Analysis of the SCA1 CAG repeat in a large number of families with dominant ataxia: clinical and molecular correlations. Ann. Neurol. 37, 176-180.
8. Frontali, M. et al. 1996 Genetic fitness in Huntington's disease and spinocerebellar ataxia 1: a population genetics model for CAG repeat expansions. Ann. Hum. Genet. 60, 423-435.
9. Genis, D., Matilla, T., Volpini, V., Rosell, J., Davalos, A., Ferrer, I., Molins, A. & Estivill, X. 1995 Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred: (CAG)n expansion and early premonitory signs and symptoms. Neurology 45, 24-30.
10. Green, H. 1993 Human genetic diseases due to codon reiteration: relationship to an evolutionary mechanism. Cell 74, 955-956.
11. Imbert, G. et al. 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.
12. Jodice, C., Malaspina, P., Persichetti, F., Novelletto, A., Spadaro, M., Giunti, P., Morocutti, C., Terrenato, L., Harding, A. E. & Frontali, M. 1991 Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I. Am. J. Hum. Genet. 54, 959-965.
13. Jodice, C., Giovannone, B., Calabresi, V., Bellocehi, M., Terrenato, L. & Novelletto, A. 1997a Population variation analysis at nine loci containing expressed trinucleotide repeats. Ann. Hum. Genet. 61, 425-438.
14. Jodice, C. et al. 1997b Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to cag repeat expansion in the CACNA1A gene on chromosome 19p. Hum. Mol. Genet. 6, 1973-1978.
15. Joutel, A. et al. 1994 Genetic heterogeneity of familial hemiplegic migraine. Am. J. Hum. Genet. 55, 1166-1172.
16. Kahlem, P., Terre, C., Green, H. & Djian, P. 1996 Peptides containing glutamine repeats as substrates for transglutaminase-catalyzed cross-linking: relevance to diseases of the nervous system. Proc. Natl Acad. Sci. USA 93, 14 580-14 585.
17. Kameya, T., Abe, K., Aoki, M., Sahara, M., Tobita, M., Konno, H. & Itoyama, Y. 1995 Analysis of spinocerebellar ataxia type 1 (SCA1)-related CAG trinucleotide expansion in Japan. Neurology 45, 1587-1594.
18. Liu, B. et al. 1995 Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability. Nature Genet. 9, 48-55.
19. McNeil, S. M., Novelletto, A., Srinidhi, J., Barnes, G., Kornbluth, I., Altherr, M. R., Wasmuth, J. J., Gusella, J. F., MacDonald, M. E. & Myers, R. H. 1997 Reduced penetrance of the Huntington's disease mutation. Hum. Mol. Genet. 6, 775-779.
20. 2+ channel gene CACNL1A4. Cell 87, 543-552.
21. Ordway, J. M. et al. 1997 Ectopically expressed CAG repeats cause intranuclear inclusions and a progressive late onset neurological phenotype in the mouse. Cell 91, 753-763.
22. Orr, H. T., Chung, M., Banfi, S., Kwiatkowski, T. J., Servadio, A., Beaudet, A. L., McCall, A. E., Duvick, L. A., Ranum, L. P. W. & Zoghbi, H. Y. 1993 Expansion in an unstable trinucleotide CAG repeat in spinocerebellar ataxia type I. Nature Genet. 4, 221-226.
23. Paulson, H. L., Perez, M. K., Trottier, Y., Trojanowski, J. Q., Subramony, S. H., Das, S. S., Vig, P., Mandel, J.-L., Fishbeck, K. H. & Pittmman, R. N. 1997 Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3. Neuron 19, 333-344.
24. Pearson, C. E., Eichler, E. E., Lorenzetti, D., Kramer, S. F., Zoghbi, H. Y., Nelson, D. L. & Sinden, R. R. 1998 Interruptions in the triplet repeats of SCA1 and FRAXA reduce the propensity and complexity of slipped strand DNA (S-DNA) formation. Biochemistry 37, 2701-2708.
25. Perutz, M. F., Johnson, T., Suzuki, M. & Finch, J. T. 1994 Glutamine repeats as polar zippers: their possible role in inherited neurodegenerative diseases. Proc. Natl Acad. Sci. USA 91, 5355-5358.
26. Quan, F., Janas, J. & Popovich, B. W. 1995 A novel CAG repeat configuration in the SCA1 gene: implications for the molecular diagnostics of spinocerebellar ataxia type 1. Hum. Mol. Genet. 4, 2411-2413.
27. Quigley, C. A., Friedman, K. J., Johnson, A., Lafrenicre, R. G., Silverman, L. M., Lubahn, D. B., Brown, T. R., Wilson, E. M., Willard, H. F. & French, F. S. 1992 Complete deletion of the androgen receptor gene: definition of the null phenotype of the androgen insensitivity syndrome and determination of carrier status. J. Clin. Endocrinol. Metab. 74, 927-933.
28. Ranum, L. P. et al. 1994 Molecular and clinical correlations in spinocerebellar ataxia type I: evidence for familial effects on the age at onset. Am. J. Hum. Genet. 55, 244-252.
29. Rubinsztein, D. C., Amos, W., Leggo, J., Goodburn, S., Ramesar, R. S., Old, J., Bontrop, R., McMahon, R., Barton, D. E. & Ferguson-Smith, M. A. 1994 Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence. Nature Genet. 7, 525-530.
30. Sasaki, H., Fukazawa, T., Yanagihara, T., Hamada, T., Shima, K., Matsumoto, A., Hashimoto, K., Ito, N., Wakisaka, A. & Tashiro, K. 1996 Clinical features and natural history of spinocerebellar ataxia type 1. Acta Neurol. Scand. 93, 64-71.
31. Scherzinger, E., Lurz, R., Turmaine, M., Mangiarini, L., Hollenbach, B., Hasenbank, R., Bates, G. P., Davies, S. W., Lehrach, H. & Wanker, E. E. 1997 Huntingtin-encoded polyglutamine expansions form amyloid-like protein aggregates in vitro and in vivo. Cell 90, 549-558.
32. Trettel, E., Mantuano, E., Veneziano, L., Sabbadini, G., Olsen, A. S., Ophoff, R. A., Frants, R. R., Jodice, C. & Frontali, M. 1998 Molecular analysis of the gene CACNA1A: refined mapping of the containing region and screening for the mutations in EA2. Eur. J. Hum. Genet. 6 (Suppl. 1), 150.
33. 2+ channel activity by deletions at the carboxyl terminus of the cardiac alpha 1 subunit. J. Biol. Chem. 269, 1635-1640.
34. White, J. K., Auerbach, W., Duyao, M. P., Vonsattel, J. P., Gusella, J. F., Joyner, A. L. & MacDonald, M. E. 1997 Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion. Nature Genet. 17, 404-410.
35. Yue, Q., Jen, J. C., Nelson, S. F. & Baloh, R. W. 1997 Progressive ataxia due a missense mutation in a calcium-channel gene. Am. J. Hum. Genet. 61, 1078-1087.
36. Yue, Q., Jen, J. C., Thwe, M. M., Nelson, S. F. & Baloh, R. W. 1998 De novo mutation in CACNA1A caused acetazolamide-responsive episodic ataxia. Am. J. Med. Genet. 77, 298-301.
37. Zeitlin, S., Liu, J. P., Chapman, D. L., Papaioannou, V. E. & Efstratiadis, A. 1995 Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington's disease gene homologue. Nature Genet. 11, 155-163.
38. 1a voltage-dependent calcium channel. Nature Genet. 15, 62-69.