De novo expansion of intermediate alleles in spinocerebellar ataxia 7

Human Molecular Genetics

Volumn 7, Issue 11, 1998, Pages 1809-1813

  Stevanin, Giovanni ^a   Giunti, Paola ^b   David, Gilles ^a   Belal, Samir ^c   Dürr, Alexandra ^a   Ruberg, Merle ^a   Wood, Nicholas ^b   Brice, Alexis ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c Institut National de Neurologie Tunisia   (Tunisia)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; CEREBELLAR ATAXIA; CONTROLLED STUDY; FAMILY STUDY; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; TRINUCLEOTIDE REPEAT;

ALLELES; ANTICIPATION, GENETIC; FEMALE; HAPLOTYPES; HUMANS; MALE; MEIOSIS; MITOSIS; SPINOCEREBELLAR DEGENERATIONS; TRINUCLEOTIDE REPEAT EXPANSION;

ATAXIA;

EID: 0031712507     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.11.1809     Document Type: Article

References (29)

1. 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. and Brice, A. (1997) Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nature Genet., 17, 65-70.
2. Johansson, J., Forsgren, L., Sandgren, O., Brice, A., Holmgren, G. and Holmberg, M. (1998) Expanded CAG repeat in Swedish spinocerebellar ataxia type 7 (SCA7) patients: effect of CAG repeat length on the clinical manifestation. Hum. Mol. Genet., 7, 171-176.
3. David, G., Dürr, A., Stevanin, G., Cancel, G., Abbas, N., Benomar, A., Belal, S., Lebre, A., 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.
4. Del-Favero, J., Krols, L., Michalik, A., Theuns, J., Löfgren, A., Goossens, D., Wehnert, A., van den Bossche, D., van Zand, K., Backhovens, H., Van Regenmorter, N., Martin, J.J. and Van Broeckhoven, C. (1998) Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion. Hum. Mol. Genet., 7, 177-186.
5. Koob, M.D., Benzow, K.A., Bird, T.D., Day, J.W., Moseley, M.L. and Ranum, L.P.W. (1998) Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA. Nature Genet., 18, 72-75.
6. 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.
7. n repeat in sporadic Huntington's disease. Nature Genet., 5, 168-173.
8. 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.
9. Goldberg, Y.P., Kremer, B., Andrew, S.E., Theilmann, J., Graham, R.K., Squitieri, F., Telenius, H., Adam, S., Sajoo, A., Starr, E., Heiberg, A., Wolff, G. and Hayden, M.R. (1993) Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects. Nature Genet., 5, 174-179.
10. Goldberg, Y.P., McMurray, C.T., Zeisler, J., Almqvist, E., Sillence, D., Richards, F., Gacy, A.M., Buchanan, J., Telenius, H. and Hayden, M.R. (1995) Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population. Hum. Mol. Genet., 4, 1911-1918.
11. Benomar, A., LeGuern, E., Dürr, A., Ouhabi, H., Stevanin, G., Yahyaoui, M., Chkili, T., Agid, Y. and Brice, A. (1994) Autosomal-dominanl cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I. Ann. Neurol., 35, 439-444.
12. Benomar, A., Krols, L., Stevanin, G., Cancel, G., Le Guem, E., David, G., Ouhabi, H., Martin, J. J., Dürr, A., Zaim, A., Ravise, N., Busque, C., Penet, C., Van Regemorter, N., Wetssenbach, J., Yahyaoui, M., Chkili, T., Agid, Y., Van Broeckhoven, C. and Brice, A. (1995) The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1. Nature Genet., 10, 84-88.
13. David, G., Giunti, P., Abbas, N., Coullin, P., Stevanin, G., Horta, W., Gemmill, R., Weissenbach, J., Wood, N., Cunha, S., Drabkin, H., Harding, A.E., Agid, Y. and Brice, A. (1996) The gene for autosomal dominant cerebellar ataxia type II is located in a 5-cM region in 3p12-p13: genetic and physical mapping of the SCA7 locus. Am. J Hum Genet., 59, 1328-1336.
14. Stevanin, G., Trottier, Y., Cancel, G., Dürr, A., David, G., Didierjean, O., Bürk, K., Imbert, G., Saudou, F., Abada-Bendib, M., Gourfinkel-An, I., Benomar, A., Abbas, N., Klockgether, T., Grid, D., Agid, Y., Mandel, J. and Brice, A. (1996) Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias. Hum. Mol. Genet., 5, 1887-1892.
15. Krols, L., Martin, J.J., David, G., Van Regemorter, N., Benomar, A., Lofgren, A., Stevanin, G., Dürr, A., Brice, A. and Van Broeckhoven, C. (1997) Refinement of the locus for autosomal dominant cerebellar ataxia type II to chromosome 3p21.1-14.1. Hum. Genet., 99, 225-232.
16. Klein, R., Klein, B.E., Jensen, S.C. and Meuer, S.M. (1997) The five-year incidence and progression of age-related maculopathy: the Beaver Dam Eye Study. Ophthalmology, 104, 7-21.
17. McNeil, S.M., Novelletto, A., Srinidhi, J., Barnes, G., Kornbluth, I., Altherr, M.R., Wasmuth, J.J., Gusella, J.F., MacDonald, M.E. and Myers, R.H. (1997) Reduced penctrance of the Huntington's disease mutation. Hum. Mol. Genet., 6, 775-779.
18. Rubinsztein, D.C., Leggo, J., Coles, R., Almqvist, E., Biancalana, V., Cassiman, J.J., Chotai, K., Connarty, M., Crauford, D., Curtis, A., Curtis, D., Davidson, M.J., Differ, A.M., Dode, C., Dodge, A., Frontali, M., Ranen, N.G., Stine, O.C., Sherr, M., Abbott, M.H., Franz, M.L., Graham, C.A., Harper, P.S., Hedreen, J.C., Jackson, A., Kaplan, J.-C, Losekoot, M., MacMillan, J.C., Morrison, P., Trottier, Y., Novelletto, A., Simpson, S.A., Theilmann, J., Whittaker, J.L., Folstein, S.E., Ross, C.A. and Hayden, M.R. (1996) Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats. Am. J. Hum. Genet., 59, 16-22.
19. Novelletto, A., Persichetti, F., Sabbadini, G., Mandich, P., Bellone, E., Ajmar, F., Pergola, M., Del Senno, L., MacDonald, M.E., Gusella, J.F. and Frontali, M. (1994) Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease. Hum. Mol. Genet., 3, 93-98.
20. n repeat in the Huntington disease gene. Hum. Mol. Genet., 2, 2063-2067.
21. Montermini, L., Andermann, E., Labuda, M., Richter, A., Pandolfo, M., Cavalcanti. F., Pianese, L., lodice, L., Farina, G., Monticelli, A., Turano, M., Filla, A., De Michele, G. and Cocozza, S. (1997) The Friedreich ataxiaGAA triplet repeat: premutation and normal alleles. Hum Mol. Genet., 6, 1261-1266.
22. Cossé, M., Schmitt, M., Campuzano, V., Reutenauer, L., Moutou, C., Mandel, J. and Koenig, M. (1997) Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations. Proc. Natl Acad. Sci. USA, 94, 7452-7457.
23. n tract in the Friedreich ataxia (STM7) gene. Hum. Genet., 99, 834-836.
24. Imbert, G., Kretz, C., Johnson, K. and Mandel, J. (1993) Origin of the expansion mutation in myotonic dystrophy. Nature Genet., 4, 72-76.
25. Murray, A., Macpherson, J.N., Pound, M.C., Sharrock, A., Youings, S.A., Dennis, N.R., McKechnie, N., Linehan, P., Morton, N.E. and Jacobs, P.A. (1997) The role of size, sequence and haplotype in the stability of FRAXA and FRAXE alleles during transmission. Hum. Mol. Genet., 6, 173-184.
26. Stevanin, G., Lebre, A.S., Mathieux, C., Cancel, G., Abbas, N., Didierjean, O., Dürr, A., Trottier, Y., Agid, Y. and Brice. A. (1997) Linkage disequilibrium between the spinocerebellar ataxia 3/Machado-Joseph disease mutation and two intragenic polymorphisms, one of which. X359Y, affects the stop codon. Am. J. Hum. Genet., 60, 1548-1552.
27. Yanagisawa, H., Fujii, K., Nagafuchi, S., Nakahori, Y., Nakagome, Y., Akane, A., Nakamura, M., Sano, A., Komure, O., Kondo, I., Jin, D.K., Sorensen, 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.
28. Takano, H., Cancel, G., Ikeguchi, T., Lorenzetti, D., Mawad, R., Stevanin, G., Didierjean, O., Dürr, A., Okaye, M., Shimohata, T. et al. (1998) Population genetics of dominantly inherited spinocerebellar ataxias with CAG repeat expansion in Japanese and Caucasian: tight association of the prevalence rates with the frequencies of intermediate alleles. Am. J. Hum. Genet., in press.
29. Amasino, R.M. (1986) Acceleration of nucleic acid hybridization rate by polyethylene glycol. Anal. Biochem., 152, 304-307.