The mismatch repair system protects against intergenerational GAA repeat instability in a Friedreich ataxia mouse model

Neurobiology of Disease

Volumn 46, Issue 1, 2012, Pages 165-171

  Ezzatizadeh, Vahid ^a   Pinto, Ricardo Mouro ^b   Sandi, Chiranjeevi ^a   Sandi, Madhavi ^a   Al Mahdawi, Sahar ^a   te Riele, Hein ^c   Pook, Mark A ^a  

^a BRUNEL UNIVERSITY   (United Kingdom)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

^c NETHERLANDS CANCER INSTITUTE   (Netherlands)

Author keywords

FRDA, frataxin; Friedreich ataxia; GAA trinucleotide repeat; Mismatch repair; MMR; Msh2; Msh3; Msh6; Pms2; Transgenic mouse model

Indexed keywords

GLYCYLALANYLALANINE; MISMATCH REPAIR PROTEIN; MISMATCH REPAIR PROTEIN PMS2; PROTEIN MSH2; PROTEIN MSH3; PROTEIN MSH6; TRIPEPTIDE; UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; DIMERIZATION; DNA SEQUENCE; DOWN REGULATION; FRATAXIN GENE; FRIEDREICH ATAXIA; GENE; GENE EXPRESSION REGULATION; GENE FREQUENCY; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; INTRON; MALE; MISMATCH REPAIR; MISMATCH REPAIR GENE; MOLECULAR DYNAMICS; MOUSE; NONHUMAN; PRIORITY JOURNAL; PROGENY; PROTEIN EXPRESSION; PROTEIN FUNCTION; TRANSGENE; TRANSGENIC MOUSE; TRINUCLEOTIDE REPEAT;

ANIMALS; DISEASE MODELS, ANIMAL; DNA MISMATCH REPAIR; FEMALE; FRIEDREICH ATAXIA; GENOMIC INSTABILITY; MALE; MICE; MICE, INBRED C57BL; MICE, KNOCKOUT; MICE, NEUROLOGIC MUTANTS; MUTS HOMOLOG 2 PROTEIN; PROTEIN MULTIMERIZATION; PROTEINS; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 84858159939     PISSN: 09699961     EISSN: 1095953X     Source Type: Journal    
DOI: 10.1016/j.nbd.2012.01.002     Document Type: Article

References (38)

1. Al-Mahdawi S., et al. GAA repeat instability in Friedreich ataxia YAC transgenic mice. Genomics 2004, 84:301-310.
2. Al-Mahdawi S., et al. The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues. Hum. Mol. Genet. 2008, 17:735-746.
3. Baker S.M., et al. Male mice defective in the DNA mismatch repair gene PMS2 exhibit abnormal chromosome synapsis in meiosis. Cell 1995, 82:309-319.
4. Campuzano V., et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996, 271:1423-1427.
5. Campuzano V., et al. Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. Hum. Mol. Genet. 1997, 6:1771-1780.
6. Clark R.M., et al. 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. 2007, 120:633-640.
7. De Biase I., et al. Progressive GAA expansions in dorsal root ganglia of Friedreich's ataxia patients. Ann. Neurol. 2007, 61:55-60.
8. De Biase I., et al. Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life. Genomics 2007, 90:1-5.
9. De Michele G., et al. Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: pedigree studies and analysis of sperm from patients with Friedreich's ataxia. Hum. Mol. Genet. 1998, 7:1901-1906.
10. de Wind N., et al. Inactivation of the mouse Msh2 gene results in mismatch repair deficiency, methylation tolerance, hyperrecombination, and predisposition to cancer. Cell 1995, 82:321-330.
11. de Wind N., et al. HNPCC-like cancer predisposition in mice through simultaneous loss of Msh3 and Msh6 mismatch-repair protein functions. Nat. Genet. 1999, 23:359-362.
12. Delatycki M.B., et al. Sperm DNA analysis in a Friedreich ataxia premutation carrier suggests both meiotic and mitotic expansion in the FRDA gene. J. Med. Genet. 1998, 35:713-716.
13. Ditch S., et al. Progressive GAA.TTC repeat expansion in human cell lines. PLoS Genet. 2009, 5:e1000704.
14. Dragileva E., et al. Intergenerational and striatal CAG repeat instability in Huntington's disease knock-in mice involve different DNA repair genes. Neurobiol. Dis. 2009, 33:37-47.
15. Foiry L., et al. Msh3 is a limiting factor in the formation of intergenerational CTG expansions in DM1 transgenic mice. Hum. Genet. 2006, 119:520-526.
16. Gomes-Pereira M., et al. Pms2 is a genetic enhancer of trinucleotide CAG.CTG repeat somatic mosaicism: implications for the mechanism of triplet repeat expansion. Hum. Mol. Genet. 2004, 13:1815-1825.
17. Goula A.V., et al. Stoichiometry of base excision repair proteins correlates with increased somatic CAG instability in striatum over cerebellum in Huntington's disease transgenic mice. PLoS Genet. 2009, 5:e1000749.
18. Gu Y., et al. Human MutY homolog, a DNA glycosylase involved in base excision repair, physically and functionally interacts with mismatch repair proteins human MutS homolog 2/human MutS homolog 6. J. Biol. Chem. 2002, 277:11135-11142.
19. Herman D., et al. Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia. Nat. Chem. Biol. 2006, 2:551-558.
20. Kim H.M., et al. Chromosome fragility at GAA tracts in yeast depends on repeat orientation and requires mismatch repair. EMBO J. 2008, 27:2896-2906.
21. Koeppen A.H. Friedreich's ataxia: pathology, pathogenesis, and molecular genetics. J. Neurol. Sci. 2011, 303:1-12.
22. Kovtun I.V., McMurray C.T. Trinucleotide expansion in haploid germ cells by gap repair. Nat. Genet. 2001, 27:407-411.
23. Kovtun I.V., McMurray C.T. Crosstalk of DNA glycosylases with pathways other than base excision repair. DNA Repair (Amst) 2007, 6:517-529.
24. Kovtun I.V., et al. OGG1 initiates age-dependent CAG trinucleotide expansion in somatic cells. Nature 2007, 447:447-452.
25. Ku S., et al. Friedreich's ataxia induced pluripotent stem cells model intergenerational GAATTC triplet repeat instability. Cell Stem Cell 2010, 7:631-637.
26. Lin Y., et al. Transcription promotes contraction of CAG repeat tracts in human cells. Nat. Struct. Mol. Biol. 2006, 13:179-180.
27. Lopez Castel A., et al. Repeat instability as the basis for human diseases and as a potential target for therapy. Nat. Rev. Mol. Cell Biol. 2010, 11:165-170.
28. McMurray C.T. Hijacking of the mismatch repair system to cause CAG expansion and cell death in neurodegenerative disease. DNA Repair (Amst) 2008, 7:1121-1134.
29. Monros E., et al. Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat. Am. J. Hum. Genet. 1997, 61:101-110.
30. Montermini L., et al. The Friedreich ataxia GAA triplet repeat: premutation and normal alleles. Hum. Mol. Genet. 1997, 6:1261-1266.
31. Pandolfo M. Friedreich ataxia: the clinical picture. J. Neurol. 2009, 256(Suppl. 1):3-8.
32. Pianese L., et al. The effect of parental gender on the GAA dynamic mutation in the FRDA gene. Am. J. Hum. Genet. 1997, 60:460-463.
33. Pook M.A., et al. Rescue of the Friedreich's ataxia knockout mouse by human YAC transgenesis. Neurogenetics 2001, 3:185-193.
34. Savouret C., et al. CTG repeat instability and size variation timing in DNA repair-deficient mice. EMBO J. 2003, 22:2264-2273.
35. Schofield M.J., Hsieh P. DNA mismatch repair: molecular mechanisms and biological function. Annu. Rev. Microbiol. 2003, 57:579-608.
36. van den Broek W.J., et al. Somatic expansion behaviour of the (CTG)n repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins. Hum. Mol. Genet. 2002, 11:191-198.
37. Wheeler V.C., et al. Mismatch repair gene Msh2 modifies the timing of early disease in Hdh(Q111) striatum. Hum. Mol. Genet. 2003, 12:273-281.
38. Zhao J., et al. Mismatch repair and nucleotide excision repair proteins cooperate in the recognition of DNA interstrand crosslinks. Nucleic Acids Res. 2009, 37:4420-4429.