A multistep mutation mechanism drives the evolution of the CAG repeat at MJD/SCA3 locus

European Journal of Human Genetics

Volumn 14, Issue 8, 2006, Pages 932-940

  Martins, Sandra ^a   Calafell, Francesc ^b   Wong, Virginia C N ^c   Sequeiros, Jorge ^a   Amorim, António ^a  

^a UNIVERSITY OF PORTO   (Portugal)

^b UNIVERSITAT POMPEU FABRA   (Spain)

^c UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

[No Author keywords available]

Indexed keywords

ATAXIN 3; GENOMIC DNA;

ARTICLE; ASIAN; BLOOD SAMPLING; CALCULATION; CAUCASIAN; CONTROLLED STUDY; EVOLUTION; GENE CONVERSION; GENE FREQUENCY; GENE LOCUS; GENE MUTATION; GENETIC DISTANCE; GENOTYPE; HAPLOTYPE; HUMAN; MACHADO JOSEPH DISEASE; MAJOR CLINICAL STUDY; MICROSATELLITE MARKER; MOLECULAR GENETICS; NEGRO; NUCLEOTIDE SEQUENCE; PHYLOGENY; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; WILD TYPE;

ALLELES; EVOLUTION, MOLECULAR; GENE FREQUENCY; GENETIC SCREENING; GENETIC TESTING; HAPLOTYPES; HUMANS; LINKAGE DISEQUILIBRIUM; LOCUS CONTROL REGION; MACHADO-JOSEPH DISEASE; MUTATION; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; POLYMORPHISM, GENETIC; REPRESSOR PROTEINS; TRINUCLEOTIDE REPEATS;

EID: 33746366792     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201643     Document Type: Article

References (33)

1. Andrés AM, Lao O, Soldevila M, Calafell F, Bertranpetit J: Dynamics of CAG repeat loci revealed by the analysis of their variability. Hum Mutat 2003; 21: 61-70.
2. Kawaguchi Y, Okamoto T, Taniwaki M et al: CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 1994; 8: 221-228.
3. Takiyama Y, Igarashi S, Rogaeva E et al: Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease. Hum Mol Genet 1995; 4: 1137-1146.
4. Igarashi S, Takiyama Y, Cancel G et al: Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: Implications for the molecular mechanisms of the instability of the CAG repeat. Hum Mol Genet 1996; 5: 923-932.
5. n tract. Eur J Hum Genet 1999; 7: 147-156.
6. Usdin K, Woodford KJ: CGG repeats associated with DNA instability and chromosome fragility form structures that block DNA synthesis in vitro. Nucleic Acids Res 1995; 23: 4202-4209.
7. Pearson CE, Sinden RR: Alternative structures in duplex DNA formed within the trinucleotide repeats of the myotonic dystrophy and fragile X loci. Biochemistry 1996; 35: 5041-5053.
8. Wells RD, Parniewski P, Pluciennik A, Bacolla A, Gellibolian R, Jaworski A: Small slipped register genetic instabilities in Escherichia coli in triplet repeat sequences associated with hereditary neurological diseases. J Biol Chem 1998; 273: 19532-19541.
9. Richard GF, Goellner GM, McMurray CT, Haber JE: Recombination-induced CAG trinucleotide repeat expansions in yeast involve the MRE11-RAD50-XRS2 complex. EMBO J 2000; 19: 2381-2390.
10. Jakupciak JP, Wells RD: Gene conversion (recombination) mediates expansions of CTG · CAG repeats. J Biol Chem 2000; 275: 40003-40013.
11. Djian P, Hancock JM, Chana HS: Codon repeats in genes associated with human diseases: Fewer repeats in the genes of nonhuman primates and nucleotide substitutions concentrated at the sites of reiteration. Proc Natl Acad Sci USA 1996; 93: 417-421.
12. Andrés AM, Soldevila M, Lao O et al: Comparative genetics of functional trinucleotide tandem repeats in humans and apes. J Mol Evol 2004; 59: 329-339.
13. Goto J, Watanabe M, Ichikawa Y et al: Machado-Joseph disease gene products carrying different carboxyl termini. Neurosci Res 1997; 28: 373-377.
14. Stevanin G, Lebre AS, Mathieux C et al: 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 1997; 60: 1548-1552.
15. Costa MC, Sequeiros J, Maciel P: Identification of three novel polymorphisms in the MJD1 gene and study of their frequency in the Portuguese population. J Hum Genet 2002; 47: 205-207.
16. Benson G: Tandem Aepeats finder: a program to analyze DNA sequences. Nucleic Acids Res 1999; 27: 573-580.
17. Gaspar C, Lopes-Cendes I, Hayes S et al: Ancestral origins of the Machado-Joseph disease mutation: A worldwide haplotype study. Am J Hum Genet 2001; 68: 523-528.
18. Schneider S, Roessli D, Excoffier L: Arlequin Ver. 2.000: A Software for Population Genetics Data Analysis. Switzerland: Genetics and Biometry Laboratory, Department of Anthropology, University of Geneva, 2000.
19. Zhang J, Rowe WL, Clark AG, Buetow KH: Genomewide distribution of high-frequency, completely mismatching SNP haplotype pairs observed to be common across human populations. Am J Hum Genet 2003; 73: 1073-1081.
20. Kong A, Gudbjartsson DF, Sainz J et al: A high-resolution recombination map of the human genome. Nat Genet 2002; 31: 241-247.
21. n allele at the SCA17 locus. Arch Neurol 2002; 59: 623-629.
22. Chattopadhyay B, Basu P, Gangopadhyay PK et al: Variation of CAG repeats and two intragenic polymorphisms at SCA3 locus among Machado-Joseph disease/SCA3 patients and diverse normal populations from eastern India. Acta Neurol Scand 2003; 108: 407-414.
23. Takano H, Cancel G, Ikeuchi T et al: Close associations between prevalences 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 1998; 63: 1060-1066.
24. Rubinsztein DC, Leggo J, Coetzee GA, Irvine RA, Buckley M, Ferguson-Smith MA: Sequence variation and size ranges of CAG repeats in the Machado-Joseph disease, spinocerebellar ataxia type 1 and androgen receptor genes. Hum Mol Genet 1995; 4: 1585-1590.
25. Limprasert P, Nouri N, Heyman RA et al: Analysis of CAG repeat of the Machado-Joseph gene in human, chimpanzee and monkey populations: A variant nucleotide is associated with the number of CAG repeats. Hum Mol Genet 1996; 5: 207-213.
26. Azevedo L, Climent C, Vilarinho L, Calafell F, Amorim A: Evidence for mutational cis-acting factors affecting mutagenesis in the ornithine transcarbamylase gene. Hum Mutat 2004; 24: 273.
27. Mittal U, Srivastava AK, Jain S, Jain S, Mukerji M: Founder haplotype for Machado-Joseph disease in the Indian population: Novel insights from history and polymorphism studies. Arch Neurol 2005; 62: 637-640.
28. Brunner RG, Jansen G, Nillesen W et al: Brief report: reverse mutation in myotonic dystrophy. N Engl J Med 1993; 328: 476-480.
29. O'Hoy KL, Tsilfidis C, Mahadevan MS et al: Reduction in size of the myotonic dystrophy trinucleotide repeat mutation during transmission. Science 1993; 259: 809-812.
30. Warner JP, Barron LH, Fitzpatrick DR, Brock DJH: A gene conversion event at the Huntington's CAG repeat. Am J Hum Genet 1996; 59: 1697.
31. Labuda M, Labuda D, Miranda C et al: Unique origin and specific ethnic distribution of the Friedreich ataxia GAA expansion. Neurology 2000; 54: 2322-2324.
32. Imbert G, Kretz C, Johnson K, Mandel JL: Origin of the expansion mutation in myotonic dystrophy. Nat Genet 1993; 4: 72-76.
33. Sobczak K, Krzyzosiak WJ: Patterns of CAG repeat interruptions in SCA1 and SCA2 genes in relation to repeat instability. Hum Mutat 2004; 24: 236-247.