Replication in mammalian cells recapitulates the locus-specific differences in somatic instability of genomic GAA triplet-repeats

Nucleic Acids Research

Volumn 34, Issue 21, 2006, Pages 6352-6361

  Rindler, Paul M ^a   Clark, Rhonda M ^a   Pollard, Laura M ^a   De Biase, Irene ^a   Bidichandani, Sanjay I ^a  

^a UNIVERSITY OF OKLAHOMA COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE NUCLEOTIDE; GUANINE NUCLEOTIDE; PYRIMIDINE NUCLEOTIDE;

ANIMAL CELL; ARTICLE; CELL DIVISION; CELL STRAIN COS1; CONTROLLED STUDY; DNA REPLICATION; FRIEDREICH ATAXIA; GENE CONTROL; GENE LOCATION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC DISTANCE; GENETIC TRANSFECTION; GENOMIC INSTABILITY; HUMAN; HUMAN CELL; HUMAN GENOME; IN VIVO STUDY; MAMMAL CELL; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; TRINUCLEOTIDE REPEAT;

ADULT; ALLELES; ANIMALS; CERCOPITHECUS AETHIOPS; COS CELLS; DNA REPLICATION; GENOME, HUMAN; GENOMIC INSTABILITY; GENOMICS; HUMANS; IRON-BINDING PROTEINS; MICE; REPLICATION ORIGIN; SIMIAN VIRUS 40; TRINUCLEOTIDE REPEAT EXPANSION;

ATAXIA; MAMMALIA;

EID: 33845632499     PISSN: 03051048     EISSN: 13624962     Source Type: Journal    
DOI: 10.1093/nar/gkl846     Document Type: Article

References (24)

1. Pearson,C.E., Nichol,E.K. and Cleary,J.D. (2005) Repeat instability: mechanisms of dynamic mutations. Nature Rev. Genet., 6, 729-742.
2. Campuzano,V., Montermini,L., Moltó,M.D., Pianese,L., Cossée,M., Cavalcanti,F., Monrós,E., Rodius,F., Duclos,F., Monticelli,A. et al. (1996) Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science, 271, 1423-1427.
3. Sharma,R., De Biase,I., Gómez,M., Delatycki,M.B., Ashizawa,T. and Bidichandani,S.I. (2004) Friedreich ataxia in carriers of unstable borderline GAA triplet-repeat alleles. Ann. Neurol., 56, 898-901.
4. Pollard,L.M., Sharma,R., Gómez,M., Shah,S., Delatycki,M.B., Pianese,L., Monticelli,A., Keats,B.J. and Bidichandani,S.I. (2004) Replication-mediated instability of the GAA triplet repeat mutation in Friedreich ataxia. Nucleic Acids Res., 32, 5962-5971.
5. Sharma,R., Bhatti,S., Gómez,M., Clark,R.M., Murray,C., Ashizawa,T. and Bidichandani,S.I. (2002) The GAA triplet-repeat sequence in Friedreich ataxia shows a high level of somatic instability in vivo, with a significant predilection for large contractions. Hum. Mol. Genet., 11, 2175-2187.
6. Dürr,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.
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 Friedreich ataxia. Am. J. Hum. Genet., 59, 554-560.
8. Montermini,L., Richter,A., Morgan,K., Justice,C.M., Julien,D., Castellotti,B., Mercier,J., Poirier,J., Capozzoli,F., Bouchard,J.P. et al. (1997) Phenotypic variability in Friedreich ataxia: Role of the associated GAA triplet repeat expansion. Ann. Neurol., 41, 675-682.
9. Monrós,E., Moltó,M.D., Martinez,F., Cañizares,J., Blanca,J., Vílchez,J.J., Prieto,F., de Frutos,R. and Palau,F. (1997) Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat. Am. J. Hum. Genet., 61, 101-110.
10. Pandolfo,M. and Koenig,M. (1998) Clinical and Pathological Aspects of Freidreich Ataxia. In Wells,R., Warren,S. and Sarmiento,M. (eds), Genetic Instabilities and Hereditary Neurological Diseases. Academic Press, pp. 373-398.
11. De Biase,I., Rasmussen,A., Endres,D., Al-Mahdawi,S., Monticelli,A., Cocozza,S., Pook,M. and Bidichandani,S.I. Progressive GAA expansions in dorsal root ganglia of Friedreich ataxia patients. Ann. Neurol. (In press).
12. Ohshima,K., Montermini,L., Wells,R.D. and Pandolfo,M. (1998) Inhibitory effects of expanded GAA.TTC triplet repeats from intron I of the Friedreich ataxia gene on transcription and replication in vivo. J. Biol. Chem., 273, 14588-14595.
13. Krasilnikova,M.M. and Mirkin,S.M. (2004) Replication stalling at Friedreich's ataxia (GAA)n repeats in vivo. Mol. Cell. Biol., 24, 2286-2295.
14. Al-Mahdawi,S., Pinte,R.M., Ruddle,P., Carroll,C., Webster,Z. and Pook,M. (2004) GAA repeat instability in Friedreich ataxia YAC transgenic mice. Genomics, 84, 301-310.
15. Clark,R.M., De Biase,I., Malykhina,A., Al-Mahdawi,S., Pook,M. and Bidichandani,S.I. (2006) The GAA triplet-repeat is unstable in the context of the human FXN locus and displays age-dependent expansions in cerebellum and DRG in a transgenic mouse model. Hum. Genet., in press.
16. Clark,R.M., Dalgliesh,G.L., Endres,D., Gómez,M., Taylor,J. and Bidichandani,S.I. (2004) Expansion of GAA triplet repeats in the human genome: Unique origin of the FRDA mutation at the center of an Alu. Genomics, 83, 373-383.
17. Clark,R.M., Bhaskar,S.S., Miyahara,M., Dalgliesh,G.L. and Bidichandani,S.I. (2006) Expansion of GAA trinucleotide repeats in mammals. Genomics, 87, 57-67.
18. Gomes-Pereira,M., Bidichandani,S.I. and Monckton,D.G. (2004) Analysis of unstable triplet repeats using small-pool polymerase chain reaction. Methods Mol. Biol., 277, 61-76.
19. Cleary,J.D., Nichol,K., Wang,Y.H. and Pearson,C.E. (2002) Evidence of cis-acting factors in replication-mediated trinucleotide repeat instability in primate cells. Nature Genet., 31, 37-46.
20. Napierala,M., Dere,R., Vetcher,A. and Wells,R.D. (2004) Structure-dependent recombination hot spot activity of GAA.TTC sequences from intron 1 of the Friedreich's ataxia gene. J. Biol. Chem., 279, 6444-6454.
21. Dere,R., Napierala,M., Ranum,L.P. and Wells,R.D. (2004) Hairpin structure-forming propensity of the (CCTG.CAGG) tetranucleotide repeats contributes to the genetic instability associated with myotonic dystrophy type 2. J. Biol. Chem., 279, 41715-41726.
22. Nichol Edamura,K., Leonard,M.R. and Pearson,C.E. (2005) Role of replication and CpG methylation in fragile X syndrome CGG deletions in primate cells. Am. J. Hum. Genet., 76, 302-311.
23. Dixon,M.J. and Lahue,R.S. (2004) DNA elements important for CAG·CTG repeat thresholds in Saccharomyces cerevisiae. Nucleic Acids Res., 32, 1289-1297.
24. Pelletier,R., Farrell,B.T., Miret,J.J. and Lahue,R.S. (2005) Mechanistic features of CAG·CTG repeat contractions in cultured cells revealed by a novel genetic assay. Nucleic Acids Res., 33, 5667-5676.