Molecular analysis of CAG repeats at five different spinocerebellar ataxia loci: Correlation and alternative explanations for disease pathogenesis

Molecules and Cells

Volumn 24, Issue 3, 2007, Pages 338-342

  Alluri, Ravindra Varma ^a   Komandur, Sreelatha ^a   Wagheray, Avinash ^a   Chaudhuri, Jaydip Ray ^a   Sitajayalakshmi, ^b   Meena, Angmuthu Kanikannan ^b   Jabeen, Afshan ^b   Chawda, Kamalesh ^a   Subhash, Kaul ^b   Krishnaveni, Alladi ^a   Hasan, Qurratulain ^a  

^a KAMINENI HOSPITALS   (India)

^b NIZAM'S INSTITUTE OF MEDICAL SCIENCES   (India)

Author keywords

Indian; LN alleles; Mechanisms; Neurodegenerative diseases; Normal ranges; Spinocerebellar ataxias; Triplet repeats

Indexed keywords

ATAXIN 1; ATAXIN 3; ATAXIN 7; TRINUCLEOTIDE;

ADOLESCENT; ADULT; AGED; ARTICLE; CAUCASIAN; CHILD; COHORT ANALYSIS; CONTROLLED STUDY; CORRELATION ANALYSIS; DENTATORUBROPALLIDOLUYSIAN ATROPHY; FEMALE; GENE FREQUENCY; GENE LOCUS; GENETIC POLYMORPHISM; HUMAN; INCIDENCE; INDIA; JAPANESE; KOREA; MAJOR CLINICAL STUDY; MALE; PATHOGENESIS; PHENOTYPE; POPULATION RESEARCH; PREVALENCE; SPINOCEREBELLAR DEGENERATION; SYMPTOMATOLOGY; TRINUCLEOTIDE REPEAT;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CHILD; CHILD, PRESCHOOL; FEMALE; GENE FREQUENCY; HUMANS; INDIA; MALE; MIDDLE AGED; SPINOCEREBELLAR ATAXIAS; TRINUCLEOTIDE REPEAT EXPANSION; TRINUCLEOTIDE REPEATS;

EID: 38349029074     PISSN: 10168478     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (24)

1. Alluri, R. V., Mohan, V., Komandur, S., Chawda, K., Chaudhuri, J. R., et al. (2005) MTHFR C677T gene mutation as a risk factor for arterial stroke: a hospital based study. Eur. J. Neurol. 12, 40-44.
2. Basu, P., Chattopadhyay, B., Gangopadhaya, P. K., Mukherjee, S. C., Sinha, K. K., et al. (2000) Analysis of CAG repeats in SCA1, SCA2, SCA3, SCA6, SCA7 and DRPLA loci in spinocerebellar ataxia patients and distribution of CAG repeats at the SCA1, SCA2 and SCA6 loci in nine ethnic populations of eastern India. Hum Genet. 106, 597-604.
3. Bird, T. D. (2004) Hereditary ataxia overview (http://www.geneclinics.org).
4. Bowater, R. P. and Wells, R. D. (2000) The intrinsically unstable life of DNA triplet-repeats associated with human hereditary disorders. Academic Press, New York.
5. Chattopadhyay, B., Basu, P., Gangopadhyay, P. K., Mukherjee, S. C., Sinha, K. K., et al. (2003). Variation of CAG repeats and two intragenic polymorphism at SCA3 locus among Machado-Joseph diseas/SCA3 patients and diverse normal populations from eastern India. Acta. Neurol. Scand. 108, 407-414.
6. Cummings, C. J. and Zoghi, H. Y. (2000b) Trinucleotide repeats: Mechanisms and pathopysiology. Annu. Rev. Genomics Hum. Genet. 1, 281-328.
7. Goldberg, Y. P., Kremer, B., Andrew, S. E., Theilmann, J., Graham, R. K., et al. (1993) Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects. Nat. Genet. 5, 174-179.
8. Hasan, Q., Mohan, V., and Ahuja, Y. R. (2004) (CTG)n expansions at the DMPK locus seen only in muscle tissue: a novel case. Indian. J. Exp. Biol. 42, 937-940.
9. Hasan, Q., Alluri, R. V., Rao, P., and Ahuja, Y. R. (2006) Role of glutamine deamidation in neurodegenerative diseases associated with triplet repeat expansions. J. Mol. Neurosci. 29, 29-33.
10. Hsieh, M., Chiu, M. H., Lin, Y. H., Lin, C. H., Lu, T. M., et al. (2000) Distribution of CAG repeat size in the dentatorubral and pallidoluysian atrophy (DRPLA) gene in a normal population in Taiwan. Proc. Natl. Sci. Counc. 24, 76-80.
11. Jin, D. K., Oh, M. R., Song, S. M., Koh, S. W., Lee, M., et al. (1999) Frequency of spinocerebellar ataxia types 1, 2, 3, 6, 7 and dentatorubral pallidoluysian atrophy mutations in Korean patients with spinocerebellar ataxia. J. Neurol. 246, 207-210.
12. Juvonen, V., Hietala, M., Kairisto, V., and Savontaus, M. L. (2005) The occurrence of dominant spinocerebellar ataxias among 251 Finnish ataxia patients and the role of predisposing large normal alleles in a genetically isolated population. Acta. Neurol. Scand. 111, 154-162.
13. Kim, J. Y., Park, S. S., Joo, S. I., Kim, J. M., and Jeon, B. S. (2001) Molecular analysis of spinocerebellar ataxias in Koreans: frequencies and reference ranges of SCA1, SCA2, SCA3, SCA6, and SCA7. Mol. Cells 12, 336-341.
14. Kooy, R. F., Reyniers, E., Storm, K., Vits, L., van Velzen, D., et al. (1999) CAG repeat contraction in androgen receptor gene in two brothers with mental retardation. Am. J. Med. Genet. 85, 209-213.
15. Maciel, P., Lopes-Cendes, I., Kish, S., Sequeiros, J., and Rouleau, G A. (1997) Mosaicism of the CAG repeat in CNS tissue in relation to age at death in spinocerebellar ataxia type I and Machado-Joseph disease patients. Am. J. Hum. Genet. 60, 993-996.
16. Monckton, D. G, Wong, L.-J. C., Ashizawa, T., and Caskey, C. T. (1995) Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analysis. Hum. Mol. Genet. 4, 1-8.
17. Myers, R. H., MacDonald, M. E., Koroshetz, W. J., Duyao, M. P., Ambrose, C. M., et al. (1993) De novo expansion of a (CAG)n repeat in sporadic Huntington's disease. Nat. Genet. 5, 168-173.
18. Saleem, Q., Choudhry, S., Mukerji, M., Bashyam, L., Padma, M. V., et al. (2000) Molecular analysis of autosomal dominant hereditary ataxias in the Indian population: high frequency of SCA2 and evidence for a common founder mutation. Hum. Genet. 106, 179-187.
19. Schols, L., Bauer, P., Schmid, T., Schulte, T., and Riess, O. (2001) Autosomal dominant cerebellar ataxias: Clinical features, genetics and pathogenesis. The Lancet Neurology 3, 291-304.
20. Sinha, K. K., Worth, P. F., Jha, D. K., Sinha, S., Stinton, V. J., et al. (2004) Autosomal dominant cerebellar ataxia: SCA 2 is the most frequent mutation in Eastern India. J. Neurol. Neurosurg. Psychiatry 75, 448-452.
21. Squitieri, F., Andrew, S. E., Goldberg, Y. P., Kremer, B., Spence, N., et al. (1994) DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanism of CAG expansion and reasons for geographic variations of prevalence. Hum. Mol. Genet. 3, 2103-2114.
22. Srivastava, A. K., Choudhry, S., Gopinath, M. S., Roy, S., Tripathi, M., et al. (2001) Molecular and clinical correlation in five Indian families with spinocerebellar ataxia 12. Ann. Neurol. 50, 796-800.
23. Takano, H., Cancel, G., Ikeuchi, T., Lorenzatti, D., Mawad, R., et al. (1998) Close associations between prevalence's of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and caucasian populations. Am. J. Hum. Genet. 63, 1060-1066.
24. van de Warrenburg, B. P., Sinke, R. J., Verschuuren-Bemelmans, C. C., Scheffer, H., Brunt, E. R., et al. (2002) Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis. Neurology 58, 702-708.