S1 | Trans-factors and trinucleotide repeat
instability
|
Trans-factor (human protein/ |
Studied in
* |
Repeat length |
Replication direction |
Comments/implications |
Ref |
|
Rad27 (FEN1/ |
Yeast |
Yes |
- |
CTG expansions and breakage (rad27D), CTG expansions and breakage (rad27-G240D no endonuclease activity), CTG expansions and (breakage (rad27-G67S moderate endonuclease activity) |
1 |
|
|
Yeast |
Yes |
- |
CTG instability (rad27D) |
2 |
|
|
Yeast |
- |
- |
CAG contractions (rad27D) (contraction assay) |
3 |
|
|
Yeast |
Yes |
Yes |
CGG instability (rad27D) |
4 |
|
|
Yeast |
Yes |
Yes |
CTG/CAG instability (rad27D) |
5,6 |
|
|
Yeast |
- |
Yes |
CTG/ CAG expansions (rad27D) (expansion assay) |
7 |
|
|
Yeast |
Yes |
- |
CAG breakage and CAG expansions/ contractions (rad27D) |
8 |
|
|
Yeast |
- |
Yes |
CTG/CAG expansions (5’ polarity bias), CTG/ CAG contractions (no polarity bias) (rad27D) |
9 |
|
|
Mouse |
- |
- |
hHD(+/) FEN1(+/) CAG contractions (transmission), no effect on somatic CAG instability |
10 |
|
|
hcell extract |
- |
- |
CAG contractions and genomic instability (D181A nuclease deficient FEN1) |
10 |
|
|
hprotein |
Yes |
- |
Cleaves 5’ GAA flaps, inhibited by structures in flap (oligo assay) |
11 |
|
|
hprotein |
Yes |
Yes |
Inhibited by long >(CNG)11 5’ flap (CTG more than CAG) (oligo assay) |
12 |
|
|
hprotein |
Yes |
- |
Inhibited by 5’ CTG flaps (oligo assay) |
13 |
|
|
hprotein |
Yes |
- |
Reduced cleavage activity allows more unprocessed 5’ CTG flap for ligation leading to expansions (G66S, G242D endo/exonuclease defects), endonuclease activity resolves bubble structures by processing 5 flaps (oligo assay) |
14 |
|
|
yprotein |
Yes |
- |
Stimulated by DNA2 only on CTG flaps with 5’ T‑tails (oligo assay) |
15 |
|
|
Human |
- |
- |
Huntington disease patients lack polymorphisms/mutations in FEN1 |
16 |
|
Pola (DNA polymerase‑a/DNA replication and repair) |
Yeast |
- |
Yes |
CAG instability, CTG instability (pol1-1 primase interaction mutation), no effect on CTG/CAG instability (pol1-17 polymerization mutation) |
5 |
|
Pold (DNA polymerase‑d/DNA replication and repair) |
Yeast |
Yes |
No |
CAG/CTG instability (pol3-14 mutation), no effect on CTG/CAG instability (pol3-01 proofreading mutation) |
5 |
|
|
Yeast |
- |
- |
CTG expansions (pol32D) (expansion assay) |
17 |
|
|
Yeast |
Yes |
- |
CAG contractions (pol3‑t mutant) |
8 |
|
Pole (DNA polymerase‑e/DNA repair and chromosomal replication) |
Yeast |
- |
- |
No effect on CTG/CAG (pol2-18 & pol2-4 mutants) |
5 |
|
|
Yeast |
- |
- |
No effect on CTG/CAG instability |
46 |
|
Polg (DNA polymerase‑g/replication of mitochondrial DNA) |
Yeast |
- |
- |
No effect on CTG instability (expansion assay) |
18 |
|
Polz (DNA polymerase-z/bypass) |
Yeast |
- |
- |
No effect on CTG/CAG instability |
46 |
|
RF‑C complex (Replication factor C/DNA replication) |
Yeast |
- |
- |
CGG expansions (rfc1-1 mutation) (expansion assay) |
18 |
|
Pol30 (PCNA/ |
Yeast |
Yes |
Yes |
CAG/ CTG instability (pol30-52, pol30-79 & pol30-90 mutants) |
5 |
|
RNAseH (RNaseH/ |
Yeast |
- |
- |
No effect on CAG instability (rnh1D, rnh35D) |
19 |
|
|
Yeast |
Yes |
- |
CAG155 breakage, no effect on CAG instability (rnh35D) |
8 |
|
Dna2 (Dna2/unwinds duplex DNA during replication) |
Yeast |
- |
- |
No effect on CAG instability (dna2-1 mutant) |
19 |
|
|
Yeast |
Yes |
- |
CAG155 breakage, no effect on CAG instability (dna2-1 mutant) |
8 |
|
|
yprotein |
Yes |
- |
Inhibited by CTG flaps, cleaves if 5’ T‑tail present |
15 |
|
Cdc9 (DNA ligase I) |
Yeast |
Yes |
- |
CAG155 breakage and CAG expansions (cdc9-2 mutant) |
8 |
|
|
Yeast |
- |
Yes |
CAG instability (mostly expansions) & CTG expansions (cdc9-1 & cdc9-2 mutants) |
19 |
|
|
Yeast |
- |
Yes |
CAG expansions & CTG contractions (Overexpression of CDC9 wt, binds PCNA way form Rad27/Fen1) |
48 |
|
|
hprotein |
Yes |
- |
Ligates 5’ CTG flaps (oligo assay) |
20 |
|
Pri2 (DNA Primase/ initiation of replication and Okazaki synthesis) |
Yeast |
Yes |
- |
CAG155 breakage, CAG instability (pri2-1 mutant) |
8 |
|
|
Yeast |
- |
No |
CTG/CAG instability (pri2-1 mutant) |
19 |
|
Mrc1 (claspin/ replication checkpoint) |
Yeast |
Yes |
- |
CAG breakage, CAG instability (mrc1-1 mutant) |
21 |
|
Wrn (Wrn/ |
Mouse |
- |
- |
No effect on CGG/CCG instabilit |
22 |
|
TP53 (p53/DNA repair) |
Mouse |
- |
- |
No effect on CGG/CCG instability |
22 |
|
SSB (Replication factor A/DNA replication and repair) |
Bacteria |
Yes |
- |
CAG contractions (ssb-1 mutant) |
23 |
|
MSH2 (MSH2/mismatch repair) |
Yeast |
- |
- |
No effect on CGG instabilit |
4 |
|
|
Yeast |
Yes |
No |
CAG/CTG instability (msh2 mutant) |
24 |
|
|
Yeast |
- |
- |
No effect on CTG instability (msh2 mutant) (expansion assay) |
25 |
|
|
Yeast |
Yes |
- |
CAG contractions (msh2D) (contraction assay) |
3 |
|
|
Yeast |
- |
- |
No effect on CTG/CAG instability (msh2 mutant) (expansion assay) |
26 |
|
|
Yeast |
No |
Yes |
CTG/CAG expansions and CTG/ CAG contractions (msh2D) |
9 |
|
|
Mouse |
- |
- |
Contractions in Msh2(-/-) DM CTG mice |
27 |
|
|
Mouse |
- |
- |
Premeiotic contractions in gametes of Msh2(-/-) DM CTG mice |
28 |
|
|
Mouse |
- |
- |
― Paternal expansion, paternal contractions, no effect on maternal transmission |
29 |
|
|
Mouse |
- |
- |
― Striatal instability in HdhQ111/+ msh2(-/-) |
29 |
|
|
Mouse |
- |
- |
―― Somatic heterogeneity in Msh2(-/-) HD CAG mice |
30 |
|
|
Mouse |
- |
- |
―― Somatic and sperm heterogeneity in Msh2(-/-) HD CAG mice |
31 |
|
|
hprotein |
Yes |
- |
Binds preferentially to CAG loop-out structure |
32 |
|
|
hcell extract |
- |
- |
No effect on processing of CTG/CAG slipouts |
47 |
|
MSH6 (MSH6/ |
Yeast |
- |
- |
No effect on CGG instability |
4 |
|
|
Yeast |
- |
- |
CTG expansions (msh6 mutant) (expansion assay) |
25 |
|
|
Mouse |
Yes |
- |
CTG somatic instability in Msh6 (‑/-) DM1 knock-in mouse |
33 |
|
MSH3 (MSH3/ |
Yeast |
- |
- |
No effect on CGG instability |
4 |
|
|
Yeast |
- |
- |
CTG expansions (msh3 mutant) (expansion assay) |
25 |
|
|
Mouse |
Yes |
- |
― CTG somatic instability in Msh3 (‑/-) DM1 knock-in mouse |
33 |
|
|
hcell extract |
- |
- |
No effect on processing of CTG/CAG slipouts |
47 |
|
yPMS1 (PMS1,PMS2/mismatch repair) |
Yeast |
Yes |
Yes |
CAG instability, no effect on CTG instability (pms1 mutant) |
34 |
|
|
Yeast |
- |
- |
No effect on CAG contractions (pms1D) (contraction assay) |
3 |
|
|
Yeast |
- |
- |
No effect on CTG instability (pms1 mutant) (expansion assay) |
25 |
|
|
Mouse |
|
|
―― CTG expansions in PMS2(-/-) Dmt‑D mouse |
34 |
|
MLH1 (MLH1/ |
Yeast |
- |
- |
No effect on CGG instability |
4 |
|
|
Yeast |
- |
- |
No effect on CAG contractions (mlh1D) (contraction assay |
3 |
|
|
hcell
extract |
- |
- |
No effect on processing of CTG/CAG slipout |
47 |
|
MRE11 (MRE11/ |
Yeast |
- |
- |
― CAG contractions (mre11D) (DSB assay) |
35 |
|
|
Bacteria |
Yes |
Yes |
―― CTG contractions, ― CAG contractions (sbcC mutant) (contraction assay) |
36 |
|
RAD50 (RAD50/double-strand break repair) |
Yeast |
- |
- |
No effect on CAG instability (rad50D) (DSB assay) |
35 |
|
|
Yeast |
Yes |
- |
―― CTG breakage (rad50D) |
2 |
|
RAD1 (RAD1/ |
Yeast |
Yes |
- |
――― CTG breakage (rad1D) |
2 |
|
RAD52 (RAD52/double-strand break repair and recombination) |
Yeast |
- |
- |
No effect on CTG/CAG instability (rad52D) |
5 |
|
|
Yeast |
- |
- |
No effect on CAG instability (rad52D) (expansion assay) |
26 |
|
|
Yeast |
Yes |
- |
―― CTG breakage (rad52D) |
2 |
|
|
Yeast |
- |
- |
No effect on CTG instability (expansion assay) (rad52 mutant) |
17 |
|
|
Mouse |
- |
- |
No effect on CTG instability in Rad52(-/-) DM CTG mice (― in mean size of expansion) |
27 |
|
RAD53 (Chk2/DNA damage response) |
Yeast |
Yes |
- |
CAG breakage, CAG contractions (rad53-21 mutant) |
37 |
|
|
Yeast |
Yes |
- |
CAG breakage (rad53-21 mutant) |
21 |
|
RAD54 (RAD54/recombination and repair) |
Mouse |
- |
- |
No effect on CTG instability in Rad54(-/-) DM CTG mice |
27 |
|
Mec1 (ATM/ DNA damage response) |
Yeast |
Yes |
- |
CAG breakage, CAG contractions (mec1D) |
37 |
|
Rad17(Rad17/checkpoint signalling) |
Yeast |
Yes |
- |
CAG breakage, CAG contractions (rad17D) |
37 |
|
Rad9 (Rad9/DNA damage response) |
Yeast |
Yes |
- |
CAG breakage, less in larger repeat, No effect on CAG instability (rad9D) |
37 |
|
Rad24 (Rad24/DNA damage checkpoint) |
Yeast |
Yes |
- |
No effect on CAG breakage, CAG contractions (rad24D) |
37 |
|
Ddc2(ATRIP/ |
Yeast |
Yes |
- |
CAG breakage for larger repeat, CAG contractions (dcd2D) |
37 |
|
DNA-PKcs (DNA-dependant protein kinases/DNA repair) |
Mouse |
- |
- |
No effect on CTG instability in DNA-PKcs (‑/-) DM CTG mice |
27 |
|
Sgs1 (similar to BLM & WRN/helicase) |
Yeast |
- |
- |
―― CGG contractions (sgs1D) |
4 |
|
Srs2 (RecQ family member/DNA helicase) |
Yeast |
Yes |
Yes |
CTG expansions, CGG expansions (expansion assay) (srs2 mutant) |
17 |
|
Din7 (XPG family/DNA repair and replication) |
Yeast |
- |
- |
No effect on CGG instability |
4 |
|
XPF (nucleotide excision repair endonuclease) |
hcell
extract |
- |
- |
No effect on processing of CTG/CAG slipouts |
47 |
|
XPG (nucleotide excision repair endonuclease) |
hcell extract |
- |
- |
No effect on processing of CTG/CAG slipouts |
47 |
|
Exo1 (Exonuclease 1/DNA replication, repair and recombination) |
Yeast |
- |
- |
No effect on CGG instability |
4 |
|
RecA (RAD51/homologous recombination) |
Yeast |
- |
- |
No effect on CTG instability |
17 |
|
|
Bacteria |
Yes |
Yes |
CTG/CAG contractions (recA-) |
38 |
|
|
Bacteria |
Yes |
Yes |
――― CTG (lagging strand) instability and ― CAG (lagging strand) instability (recA56 mutant) (deletion assay) |
39 |
|
|
Bacteria |
- |
- |
No effect on CTG and CGG instability (recA-) |
40 |
|
RecBC (bacterial double-strand break repair) |
Bacteria |
Yes |
Yes |
CTG/CAG contractions (recBC-) |
38 |
|
DNA polymerase III |
Bacteria |
Yes |
No |
CGG contractions (mutD5 & dnaQ49ts), CTG/CAG contractions (dnaQ49ts destabilizes the replication fork/proofreading) |
41 |
|
|
|
- |
- |
CTG/CAG expansions (mutD5 impairs exonuclease activity) |
41 |
|
Spo11 (Spo11/meiotic early recombination) |
Yeast |
- |
- |
― Meiotic CAG instability (spo11D) |
42 |
|
Spo 13 (yeast meiosis regulator) |
Yeast |
- |
- |
No effect on CAG meiotic instability (spo13D) |
42 |
|
MutS (bacterial mismatch repair) |
Bacteria |
Yes |
Yes |
CAG (lagging strand) instability, no effect on CTG (lagging strand) instability (mutS mutant) (deletion assay) |
39 |
|
|
Bacteria |
Yes |
- |
― Large CAG contractions, small CAG contractions (mutS mutant) |
43 |
|
|
Bacteria |
- |
Yes |
―― CAG instability, ― magnitude of CTG contractions (mutS mutant) |
40 |
|
MutL (bacterial mismatch repair) |
Bacteria |
- |
Yes |
―― CAG instability, ― magnitude of CTG contractions (mutL mutant) |
40 |
|
MutH (bacterial mismatch repair) |
Bacteria |
- |
Yes |
―― CAG instability, ― magnitude of CTG contractions (mutH mutant) |
40 |
|
Mus81 (Mus81, structure specific endonuclease) |
Yeast |
- |
- |
No effect on CAG/CTG instability (mus81D) (recombination assay) |
44 |
|
UvrA (bacterial nucleotide excision repair) |
Bacteria |
Yes |
Yes |
CTG contractions, no effect on CAG, CGG or GAA instability (uvrA mutant) |
45 |
|
|
Bacteria |
Yes |
Yes |
―― CTG contractions, ― CAG contractions (uvrA6 mutant) (contraction assay) |
36 |
|
UvrB (bacterial nucleotide excision repair) |
Bacteria |
Yes |
Yes |
―― CTG instability, no effect on CAG, CGG or GAA instability (uvrB mutant) |
45 |
|
|
Bacteria |
Yes |
Yes |
―― CAG contractions (contraction assay) (uvrB5 mutant) |
36 |
|
Rtg2 (yeast metabolic regulation) |
Yeast |
- |
- |
No effect on (CTG)25 (rtg2D) (expansion assay) |
17 |
-, Not applicable;, increased; ―, decreased (number of arrows indicate relative extent of change within, not between, reference; that is, ―――>―); instability, both expansions and contractions; xprotein, yeast or human purified protein. Wherever possible the lagging template strand repeat sequence is noted.
1. Liu, Y., Zhang, H., Veeraraghavan, J., Bambara, R. A. & Freudenreich, C. H. Saccharomyces cerevisiae flap endonuclease 1 uses flap equilibration to maintain triplet repeat stability. Mol Cell Biol 24, 404964 (2004).
2. Freudenreich, C. H., Kantrow, S. M. & Zakian, V. A. Expansion and length-dependent fragility of CTG repeats in yeast. Science 279, 8536 (1998).
3. Richard, G. F., Dujon, B. & Haber, J. E. Double-strand break repair can lead to high frequencies of deletions within short CAG/CTG trinucleotide repeats. Mol Gen Genet 261, 87182 (1999).
4. White, P. J., Borts, R. H. & Hirst, M. C. Stability of the human fragile X (CGG)(n) triplet repeat array in Saccharomyces cerevisiae deficient in aspects of DNA metabolism. Mol Cell Biol 19, 567584 (1999).
5. Schweitzer, J. K. & Livingston, D. M. The effect of DNA replication mutations on CAG tract stability in yeast. Genetics 152, 95363 (1999).
6. Schweitzer, J. K. & Livingston, D. M. Expansions of CAG repeat tracts are frequent in a yeast mutant defective in Okazaki fragment maturation. Hum Mol Genet 7, 6974. (1998).
7. Spiro, C. et al. Inhibition of FEN-1 processing by DNA secondary structure at trinucleotide repeats. Mol Cell 4, 107985 (1999).
8. Callahan, J. L., Andrews, K. J., Zakian, V. A. & Freudenreich, C. H. Mutations in yeast replication proteins that increase CAG/CTG expansions also increase repeat fragility. Mol Cell Biol 23, 784960 (2003).
9. Maurer, D. J., OCallaghan, B. L. & Livingston, D. M. Mapping the polarity of changes that occur in interrupted CAG repeat tracts in yeast. Mol Cell Biol 18, 4597604 (1998).
10. Spiro, C. & McMurray, C. T. Nuclease-deficient FEN-1 blocks Rad51/BRCA1-mediated repair and causes trinucleotide repeat instability. Mol Cell Biol 23, 606374 (2003).
11. Ruggiero, B. L. & Topal, M. D. Triplet repeat expansion generated by DNA slippage is suppressed by human flap endonuclease 1. J Biol Chem 279, 2308897 (2004).
12. Lee, S. & Park, M. S. Human FEN-1 can process the 5‑flap DNA of CTG/CAG triplet repeat derived from human genetic diseases by length and sequence dependent manner. Exp Mol Med 34, 3137 (2002).
13. Henricksen, L. A., Tom, S., Liu, Y. & Bambara, R. A. Inhibition of flap endonuclease 1 by flap secondary structure and relevance to repeat sequence expansion. J Biol Chem 275, 164207 (2000).
14. Liu, Y. & Bambara, R. A. Analysis of human flap endonuclease 1 mutants reveals a mechanism to prevent triplet repeat expansion. J Biol Chem 278, 1372839 (2003).
15. Kao, H. I., Veeraraghavan, J., Polaczek, P., Campbell, J. L. & Bambara, R. A. On the roles of Saccharomyces cerevisiae Dna2p and Flap endonuclease 1 in Okazaki fragment processing. J Biol Chem 279, 1501424 (2004).
16. Otto, C. J., Almqvist, E., Hayden, M. R. & Andrew, S. E. The flap endonuclease gene FEN1 is excluded as a candidate gene implicated in the CAG repeat expansion underlying Huntington disease. Clin Genet 59, 1227 (2001).
17. Bhattacharyya, S. & Lahue, R. S. Saccharomyces cerevisiae Srs2 DNA helicase selectively blocks expansions of trinucleotide repeats. Mol Cell Biol 24, 732430 (2004).
18. Pelletier, R., Krasilnikova, M. M., Samadashwily, G. M., Lahue, R. & Mirkin, S. M. Replication and expansion of trinucleotide repeats in yeast. Mol Cell Biol 23:1349-57 (2003).
19. Ireland, M. J., Reinke, S. S. & Livingston, D. M. The impact of lagging strand replication mutations on the stability of CAG repeat tracts in yeast. Genetics 155, 165765 (2000).
20. Henricksen, L. A., Veeraraghavan, J., Chafin, D. R. & Bambara, R. A. DNA ligase I competes with FEN1 to expand repetitive DNA sequences in vitro. J Biol Chem 277, 223619 (2002).
21. Freudenreich, C. H. & Lahiri, M. Structure-forming CAG/CTG repeat sequences are sensitive to breakage in the absence of Mrc1 checkpoint function and S‑phase checkpoint signaling: implications for trinucleotide repeat expansion diseases. Cell Cycle 3, 13704 (2004).
22. Fleming, K., Riser, D. K., Kumari, D. & Usdin, K. Instability of the fragile X syndrome repeat in mice: the effect of age, diet and mutations in genes that affect DNA replication, recombination and repair proficiency. Cytogenet Genome Res 100, 1406 (2003).
23. Rosche, W. A. et al. Single-stranded DNA-binding protein enhances the stability of CTG triplet repeats in Escherichia coli. J Bacteriol 178, 50424 (1996).
24. Schweitzer, J. K. & Livingston, D. M. Destabilization of CAG trinucleotide repeat tracts by mismatch repair mutations in yeast. Hum Mol Genet 6, 34955 (1997).
25. Rolfsmeier, M. L., Dixon, M. J. & Lahue, R. S. Mismatch repair blocks expansions of interrupted trinucleotide repeats in yeast. Mol Cell 6, 15017 (2000).
26. Miret, J. J., Pessoa-Brandao, L. & Lahue, R. S. Orientation-dependent and sequence-specific expansions of CTG/CAG trinucleotide repeats in Saccharomyces cerevisiae. Proc Natl Acad Sci U S A 95, 1243843 (1998).
27. Savouret, C. et al. CTG repeat instability and size variation timing in DNA repair-deficient mice. Embo J 22, 226473 (2003).
28. Savouret, C. et al. MSH2-dependent germinal CTG repeat expansions are produced continuously in spermatogonia from DM1 transgenic mice. Mol Cell Biol 24, 62937 (2004).
29. Wheeler, V. C. et al. Mismatch repair gene Msh2 modifies the timing of early disease in Hdh(Q111) striatum. Hum Mol Genet 12, 27381 (2003).
30. Manley, K., Shirley, T. L., Flaherty, L. & Messer, A. Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice. Nat Genet 23, 4713 (1999).
31. Kovtun, I. V. & McMurray, C. T. Trinucleotide expansion in haploid germ cells by gap repair. Nat Genet 27, 40711 (2001).
32. Pearson, C. E., Ewel, A., Acharya, S., Fishel, R. A. & Sinden, R. R. Human MSH2 binds to trinucleotide repeat DNA structures associated with neurodegenerative diseases. Hum Mol Genet 6, 111723 (1997).
33. 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 11, 1918 (2002).
34. Gomes-Pereira, M., Fortune, M. T., Ingram, L., McAbney, J. P. & Monckton, D. G. Pms2 is a genetic enhancer of trinucleotide CAG. CTG repeat somatic mosaicism: implications for the mechanism of triplet repeat expansion. Hum Mol Genet 13, 181525 (2004).
35. Richard, G. F., Goellner, G. M., McMurray, C. T. & Haber, J. E. Recombination-induced CAG trinucleotide repeat expansions in yeast involve the MRE11-RAD50-XRS2 complex. Embo J 19, 238190 (2000).
36. Oussatcheva, E. A., Hashem, V. I., Zou, Y., Sinden, R. R. & Potaman, V. N. Involvement of the nucleotide excision repair protein UvrA in instability of CAG·CTG repeat sequences in Escherichia coli. J Biol Chem 276, 3087884 (2001).
37. Lahiri, M., Gustafson, T. L., Majors, E. R. & Freudenreich, C. H. Expanded CAG repeats activate the DNA damage checkpoint pathway. Mol Cell 15, 28793 (2004).
38. Hebert, M. L., Spitz, L. A. & Wells, R. D. DNA double-strand breaks induce deletion of CTG·CAG repeats in an orientation-dependent manner in Escherichia coli. J Mol Biol 336, 65572 (2004).
39. Hashem, V. I., Rosche, W. A. & Sinden, R. R. Genetic assays for measuring rates of (CAG)·(CTG) repeat instability in Escherichia coli. Mutat Res 502, 2537 (2002).
40. Jaworski, A. et al. Mismatch repair in Escherichia coli enhances instability of (CTG)n triplet repeats from human hereditary diseases. Proc Natl Acad Sci U S A 92, 1101923 (1995).
41. Iyer, R. R., Pluciennik, A., Rosche, W. A., Sinden, R. R. & Wells, R. D. DNA polymerase III proofreading mutants enhance the expansion and deletion of triplet repeat sequences in Escherichia coli. J Biol Chem 275, 217484 (2000).
42. Jankowski, C. & Nag, D. K. Most meiotic CAG repeat tract-length alterations in yeast are SPO11 dependent. Mol Genet Genomics 267, 6470 (2002).
43. Parniewski, P., Jaworski, A., Wells, R. D. & Bowater, R. P. Length of CTG·CAG repeats determines the influence of mismatch repair on genetic instability. J Mol Biol 299, 86574 (2000).
44. Richard, G. F., Cyncynatus, C. & Dujon, B. Contractions and expansions of CAG/CTG trinucleotide repeats occur during ectopic gene conversion in yeast, by a MUS81-independent mechanism. J Mol Biol 326, 76982 (2003).
45. Parniewski, P., Bacolla, A., Jaworski, A. & Wells, R. D. Nucleotide excision repair affects the stability of long transcribed (CTG·CAG) tracts in an orientation-dependent manner in Escherichia coli. Nucleic Acids Res 27, 61623 (1999).
46. Dixon MJ, Lahue RS. Examining the potential role of DNA polymerases eta and zeta in triplet repeat instability in yeast. DNA Repair (Amst). 1:763-70. (2002)
47. Panigrahi GB, Lau R, Montgomery SE, Leonard MR, Pearson CE. Slipped (CTG)·(CAG) repeats can be correctly repaired, escape repair or undergo error-prone repair. Nat Struct Mol Biol. 12:654-62. (2005)
48. Subramanian J, Vijayakumar S, Tomkinson AE, Arnheim N. Genetic instability induced by overexpression of DNA ligase I in budding yeast. Genetics, in press. (2005)