The Friedreich ataxia GAA triplet repeat: Premutation and normal alleles

Human Molecular Genetics

Volumn 6, Issue 8, 1997, Pages 1261-1266

  Montermini, Laura ^a   Andermann, Eva ^b,c   Labuda, Margaret ^c   Richter, Andrea ^d   Pandolfo, Massimo ^a,c,e   Cavalcanti, Francesca ^f   Pianese, Luigi ^f   Iodice, Luisa ^f   Farina, Gerardina ^f   Monticelli, Antonella ^f   Turano, Mimmo ^f   Filla, Alessandro ^f   De Michele, Giuseppe ^f   Cocozza, Sergio ^f  

^a Ctr de Rech Louis Charles Simard   (Canada)

^b MCGILL UNIVERSITY   (Canada)

^c MCGILL UNIVERSITY   (Canada)

^d UNIVERSITY OF MONTREAL   (Canada)

^e UNIVERSITÉ DE MONTRÉAL   (Canada)

^f UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ALU SEQUENCE; ARTICLE; CASE REPORT; CHROMOSOME 9Q; DNA POLYMORPHISM; DNA SEQUENCE; FRIEDREICH ATAXIA; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; HUMAN; HUMAN CELL; PRIORITY JOURNAL; TRINUCLEOTIDE REPEAT;

ALLELES; BASE SEQUENCE; DNA; FRIEDREICH ATAXIA; HUMANS; IRON-BINDING PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); POLYMORPHISM, GENETIC; TRINUCLEOTIDE REPEATS;

ATAXIA;

EID: 8544240144     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.8.1261     Document Type: Article

References (28)

1. Campuzano, V., Montermini, L., Moltò, M.D., Pianese, L., Cossée, M., Cavalcanti, F., Monros, E., Rodius, F., Duclos, F., Monticelli, A., Zara, F., Cañizares, J., Koutnikova, H., Bidichandani, S., Gellera, C., Brice, A., Trouillas, P., De Michele, G., Filla, A., De Frutos, R., Palau, F., Patel, P.I., Di Donato, S., Mandel, J.-L., Cocozza, S., Koenig, M. and Pandolfo, M. (1996) Friedreich ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science, 271, 1423-1427.
2. Cossée, M., Campuzano, V., Koutnikova, H., Fischbeck, K., Mandel, J-L., Koenig, M., Bidichandani, S.I., Patel, P.I., Moltò, M.D., Cañizares, J., De Frutos, R., Pianese, L., Cavalcanti, F., Monticelli, A., Cocozza, S., Montermini, L. and Pandolfo, M. (1997) Frataxin fracas. Nature Genet., 15, 337
3. Montermini, L., Kish, S., Jiralerspong, S., Lamarche, J. and Pandolfo, M. (1997) Somatic mosaicism for the Friedreich ataxia GAA expansions in the central nervous system. Neurology, in press.
4. Pianese, L., Cavalcanti, F., De Michele, G., Filla, A., Campanella, G., Calabrese, O., Castaldo. I., Monticelli, A. and Cocozza, S. (1997) The effect of parental gender on the GAA dynamic mutation in FRDA gene. Am. J. Hum. Genet., 60, 460-462.
5. Montermini, L., Richter, A., Morgan, K., Justice, C.J., Julien, D., Castellotti, B., Mercier, J., Poirier, J., Capozzoli, F., Bouchard, J.-P., Lemieux, B., Mathieu, J., Vanasse, M., Seni, M.-H., Graham, G., Andermann, F., Andermann, E., Melançon, S. B., Keats, B.J.B., Di Donato, S. and Pandolfo M. (1997) Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion. Ann. Neurol, 41, 675-682.
6. Ohshima, K., Kang, S., Larson, J.E. and Wells, R.D. (1996) Cloning, characterization, and properties of seven triplet repeat DNA sequences. J. Biol. Chem., 271,16773-16783.
7. Filla, A., De Michele, G., Cavalcanti, F., Pianese, L., Monticelli, A., Campanella, G. and Cocozza, S. (1996) The relationship between trinucleotide (GAA) repeat length and clinical features in Fredreich ataxia. Am. J. Hum. Genet., 59, 554-560.
8. Durr, A., Cossée, M., Agid, Y., Campuzano, V., Mignard, C., Penet, C., Mandel, J.-L., Brice, A. and Koenig, M. (1996) Clinical and genetic abnormalities in patients with Friedreich's ataxia. N. Engl. J. Med., 335, 1169-1175.
9. Pandolfo, M., Sirugo, G., Antonelli, A., Weitnauer, L., Ferretti, L., Leone, M., Dones, I., Cerino, A., Fujita, R., Hanauer, A., Mandel, J.-L. and Di Donato, S. (1990) Friedreich ataxia in Italian families: genetic homogeneity and linkage disequilibrium with the marker loci D9S5 and D9S15. Am. J. Hum. Genet., 47, 228-235.
10. Sirugo, G., Cocozza, S., Redolfi, E., Brice, A., Cavalcanti, F., De Michele, G., Dones, I., Filla, A., Koenig, M., Lorenzetti, D., Monticelli, A., Pianese, L., Rousseau, F., Campanella, G., Varrone, S., Mandel, J.-L., Di Donato, S. and Pandolfo, M. (1993) Linkage disequilibrium analysis of Friedreich's ataxia in 140 Caucasian families: positioning of the disease locus and evaluation of allelic heterogeneity. Eur. J. Hum. Genet., 1, 133-143.
11. Monros, E., Cañizares, J., Moltò, M.D., Rodius, F., Montermini, L., Cossée, M., Martinez, F., Prieto, F., De Frutos, R., Koenig, M., Pandolfo, M., Bertranpetit, J. and Palau, F. (1996) Evidence for a common origin of most Friedreich ataxia chromosomes in the Spanish population. Eur. J. Hum. Genet., 4, 191-198.
12. Imbert, G., Kretz, C., Johnson, K. and Mandel, J-L. (1993) Origin of the expansion mutation in myotonic dystrophy. Nature Genet., 3, 72-75.
13. Deininger, P.L. and Batzer, M.A. (1993) Evolution of retroposons. Evol Biol., 11, 157-196.
14. Altschul, S. F., Gish, W., Miller, W., Myers, E.W. and Lipman, D.J. (1990). Basic local alignment search tool. J. Mol. Biol., 215, 403-410.
15. Kapitonov, V. and Jurka, J. (1996) The age of Alu subfamilies. J. Mol. Evol., 42, 59-65.
16. Economou, E.P., Bergen, A.W., Warren, A.C. and Antonarakis, S.E. (1990) The polyadenylate tract of Alu repetitive elements is polymorphic in the human genome. Proc Natl. Acad. Sci. USA, 87, 2951-2954.
17. Arcot, S.S., Fontius, J.J., Deininger, P.L. and Batzer, M.A. (1995) Identification and analysis of a young polymorphic Alu element. Biochem. Biophys., 1263, 99-102.
18. Richards, R.I. and Sutherland, G.R. (1994) Simple repeat DNA is not replicated simply. Nature Genet., 6, 114-116.
19. Wells, R.D. (1996) Molecular basis of genetic instability of triplet repeats. J. Biol. Chem., 271, 2875-2878.
20. Cossée, M., Durr, A., Campuzano, V., Pandolfo, M., Agid, Y., Mandel, J-L., Brice, A. and Koenig, M. (1996) Evolution of the Friedreich ataxia trinucleotide repeat expansion and correlation with clinical spectrum. Am. J. Hum. Genet., 59 (suppl.), A204.
21. Eichler, E.E, Holden, J.J.A., Popovich, B.W., Reiss, A.L., Snow, K., Thibodeau, S.N., Richards, C.S., Ward, P.A. and Nelson, D.L. (1994) Length of uninterrupted CGG repeats determines instability in the FMR1 gene. Nature Genet., 8, 88-94.
22. Gacy, A.M., Goellner, G., Juranic, N., Macura, S. and McMurray, C.T. (1995) Trinucleotide repeats that expand in human disease form hairpin structures in vitro. Cell, 81, 533-540.
23. Skelly, J.V., Edwards, K.J., Jenkins, T.C. and Neidle, S. (1993) Crystal structure of an oligonucleotide duplex containing G·G base pairs: influence of mispairing on DNA backbone conformation. Proc. Natl. Acad. Sci. USA, 90, 804-808.
24. Wells, R.D., Collier, D.A., Hanvey, J.C., Shimizy, M. and Wohlrab, F. (1988) The chemistry and biology of unusual DNA structures adopted by oligopurine-oligopyrimidine sequences. FASEB J., 2, 2939-2949.
25. Kunst, C.B. and Warren, S.T. (1994) Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles. Cell, 77, 853-861.
26. Snow, K., Tester, D.J., Kruckeberg, K.E., Schaid, D.J. and Thibodeau, S.N. (1994) Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation. Hum. Mol. Genet., 3, 1543-1551.
27. Hirst, M.C., Grewal, P.K. and Davies, K.E. (1994) Precursor arrays for triplet repeat expansion at the fragile X locus. Hum. Mol. Genet., 9, 1553-1560.
28. Chung, M.Y., Ranum, L.P.W., Duvick, L.A., Servadio, A., Zoghbi, H.I. and Orr, H.T. (1993) Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type 1. Nature Genet., 5, 254-258.