DNA structures, repeat expansions and human hereditary disorders

Current Opinion in Structural Biology

Volumn 16, Issue 3, 2006, Pages 351-358

  Mirkin, Sergei M ^a  

^a UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

REPETITIVE DNA;

ATAXIA; DNA RECOMBINATION; DNA REPAIR; DNA REPLICATION; DNA STRAND BREAKAGE; DNA STRUCTURE; FRAGILE X SYNDROME; GENETIC DISORDER; HUMAN; MEDICAL RESEARCH; MICROSATELLITE INSTABILITY; MYOTONIC DYSTROPHY; NONHUMAN; PRIORITY JOURNAL; PROTEIN CONFORMATION; REVIEW; SPINOCEREBELLAR DEGENERATION;

DNA; DNA REPEAT EXPANSION; DNA REPLICATION; FRAGILE X SYNDROME; FRIEDREICH ATAXIA; GENETIC DISEASES, INBORN; HUMANS; HUNTINGTON DISEASE; MYOTONIC DYSTROPHY; NUCLEIC ACID CONFORMATION;

ATAXIA;

EID: 33744807443     PISSN: 0959440X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.sbi.2006.05.004     Document Type: Review

References (59)

1. Fleischer B. Uber myotonische dystrophie mit katarakt. Graefes Arch Klin Exp Ophtalmol 96 (1918) 91-133 [Title translation: On myotonic dystrophy with cataracts]
2. Sherman S.L., Jacobs P.A., Morton N.E., Froster-Iskenius U., Howard-Peebles P.N., Nielsen K.B., Partington M.W., Sutherland G.R., Turner G., and Watson M. Further segregation analysis of the fragile X syndrome with special reference to transmitting males. Hum Genet 69 (1985) 289-299
3. Oberle I., Rousseau F., Heitz D., Kretz C., Devys D., Hanauer A., Boue J., Bertheas M.F., and Mandel J.L. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 252 (1991) 1097-1102
4. Verkerk A.J.M.H., Pieretti M., Sutcliffe J.S., Fu Y.H., Kuhl D.P.A., Pizzuti A., Reiner O., Richards S., Victoria M.F., Zhang F., et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65 (1991) 905-914
5. Kremer E.J., Pritchard M., Lynch M., Yu S., Holman K., Baker E., Warren S.T., Schlessinger D., Sutherland G.R., and Richards R.I. Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. Science 252 (1991) 1711-1714
6. La Spada A.R., Roling D.B., Harding A.E., Warner C.L., Spiegel R., Hausmanowa-Petrusewicz I., Yee W.C., and Fischbeck K.H. Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. Nat Genet 2 (1992) 301-304
7. Aslanidis C., Jansen G., Amemiya C., Shutler G., Mahadevan M., Tsilfidis C., Chen C., Alleman J., Wormskamp N.G., Vooijs M., et al. Cloning of the essential myotonic dystrophy region and mapping of the putative defect. Nature 355 (1992) 548-551
8. Buxton J., Shelbourne P., Davies J., Jones C., Van Tongeren T., Aslanidis C., de Jong P., Jansen G., Anvret M., Riley B., et al. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature 355 (1992) 547-548
9. Harley H.G., Brook J.D., Rundle S.A., Crow S., Reardon W., Buckler A.J., Harper P.S., Housman D.E., and Shaw D.J. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature 355 (1992) 545-546
10. Campuzano V., Montermini L., Molto M.D., Pianese L., Cossee M., Cavalcanti F., Monros E., Rodius F., Duclos F., Monticelli A., et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271 (1996) 1423-1427
11. Fu Y.H., Kuhl D.P., Pizzuti A., Pieretti M., Sutcliffe J.S., Richards S., Verkerk A.J., Holden J.J., Fenwick Jr. R.G., Warren S.T., et al. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 67 (1991) 1047-1058
12. Liquori C.L., Ricker K., Moseley M.L., Jacobsen J.F., Kress W., Naylor S.L., Day J.W., and Ranum L.P. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 293 (2001) 864-867
13. Matsuura T., Yamagata T., Burgess D.L., Rasmussen A., Grewal R.P., Watase K., Khajavi M., McCall A.E., Davis C.F., Zu L., et al. Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat Genet 26 (2000) 191-194
14. Lalioti M.D., Scott H.S., Buresi C., Rossier C., Bottani A., Morris M.A., Malafosse A., and Antonarakis S.E. Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy. Nature 386 (1997) 847-851
15. Fishel R., and Kolodner R.D. Identification of mismatch repair genes and their role in the development of cancer. Curr Opin Genet Dev 5 (1995) 382-395
16. Kunst C.B., and Warren S.T. Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles. Cell 77 (1994) 853-861
17. Strand M., Prolla T.A., Liskay R.M., and Petes T.D. Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repair. Nature 365 (1993) 274-276
18. Kunkel T.A. Slippery DNA and diseases. Nature 365 (1993) 207-208
19. Smith S.S., Laayoun A., Lingeman R.G., Baker D.J., and Riley J. Hypermethylation of telomere-like foldbacks at codon 12 of the human c-Ha-ras gene and the trinucleotide repeat of the FMR-1 gene of fragile X. J Mol Biol 243 (1994) 143-151
20. Gacy A.M., Goellner G., Juranic N., Macura S., and McMurray C.T. Trinucleotide repeats that expand in human disease form hairpin structures in vitro. Cell 81 (1995) 533-540
21. Mitchell J.E., Newbury S.F., and McClellan J.A. Compact structures of d(CNG)n oligonucleotides in solution and their possible relevance to fragile X and related human genetic diseases. Nucleic Acids Res 23 (1995) 1876-1881
22. Yu A., Dill J., Wirth S.S., Huang G., Lee V.H., Haworth I.S., and Mitas M. The trinucleotide repeat sequence d(GTC)15 adopts a hairpin conformation. Nucleic Acids Res 23 (1995) 2706-2714
23. Zheng M., Huang X., Smith G.K., Yang X., and Gao X. Genetically unstable CXG repeats are structurally dynamic and have a high propensity for folding. An NMR and UV spectroscopic study. J Mol Biol 264 (1996) 323-336
24. Chen X., Mariappan S.V., Catasti P., Ratliff R., Moyzis R.K., Laayoun A., Smith S.S., Bradbury E.M., and Gupta G. Hairpins are formed by the single DNA strands of the fragile X triplet repeats: structure and biological implications. Proc Natl Acad Sci USA 92 (1995) 5199-5203
25. Suen I.-S., Rhodes J.N., Christy M., McEwen B., Gray D.M., and Mitas M. Structural properties of Friedreich's ataxia d(GAA) repeats. Biochim Biophys Acta 1444 (1999) 14-24
26. Usdin K. NGG-triplet repeats form similar intrastrand structures: implications for the triplet expansion diseases. Nucleic Acids Res 26 (1998) 4078-4085
27. Pearson C.E., and Sinden R.R. Alternative structures in duplex DNA formed within the trinucleotide repeats of the myotonic dystrophy and fragile X loci. Biochemistry 35 (1996) 5041-5053
28. Mirkin S.M., Lyamichev V.I., Drushlyak K.N., Dobrynin V.N., Filippov S.A., and Frank-Kamenetskii M.D. DNA H form requires a homopurine-homopyrimidine mirror repeat. Nature 330 (1987) 495-497
29. Gacy A.M., Goellner G.M., Spiro C., Chen X., Gupta G., Bradbury E.M., Dyer R.B., Mikesell M.J., Yao J.Z., Johnson A.J., et al. GAA instability in Friedreich's ataxia shares a common, DNA-directed and intra-allelic mechanism with other trinucleotide diseases. Mol Cell 1 (1998) 583-593
30. Sakamoto N., Chastain P.D., Parniewski P., Ohshima K., Pandolfo M., Griffith J.D., and Wells R.D. Sticky DNA: self association properties of long GAA.TTC repeats in R. R. Y triplex structures from Friedreich's ataxia. Mol Cell 3 (1999) 465-475
31. Vetcher A.A., Napierala M., Iyer R.R., Chastain P.D., Griffith J.D., and Wells R.D. Sticky DNA, a long GAA•GAA•TTC triplex that is formed intramolecularly, in the sequence of intron 1 of the frataxin gene. J Biol Chem 277 (2002) 39217-39227
32. Christophe D., Cabrer B., Bacolla A., Targovnik H., Pohl V., and Vassart G. An unusually long poly(purine)-poly(pyrimidine) sequence is located upstream from the human thyroglobulin gene. Nucleic Acids Res 13 (1985) 5127-5144
33. Potaman V.N., Bissler J.J., Hashem V.I., Oussatcheva E.A., Lu L., Shlyakhtenko L.S., Lyubchenko Y.L., Matsuura T., Ashizawa T., Leffak M., et al. Unpaired structures in SCA10 (ATTCT)n. (AGAAT)n repeats. J Mol Biol 326 (2003) 1095-1111
34. Pearson C.E., Eichler E.E., Lorenzetti D., Kramer S.F., Zoghbi H.Y., Nelson D.L., and Sinden R.R. Interruptions in the triplet repeats of SCA1 and FRAXA reduce the propensity and complexity of slipped strand DNA (S-DNA) formation. Biochemistry 37 (1998) 2701-2708
35. Petruska J., Arnheim N., and Goodman M.F. Stability of intrastrand hairpin structures formed by the CAG/CTG class of DNA triplet repeats associated with neurological diseases. Nucleic Acids Res 24 (1996) 1992-1998
36. Kang S., Jaworski A., Ohshima K., and Wells R.D. Expansion and deletion of CTG repeats from human disease genes are determined by the direction of replication in E. coli. Nat Genet 10 (1995) 213-218
37. Freudenreich C.H., Stavenhagen J.B., and Zakian V.A. Stability of a CTG/CAG trinucleotide repeat in yeast is dependent on its orientation in the genome. Mol Cell Biol 17 (1997) 2090-2098
38. Miret J.J., Pessoa-Brandao L., and Lahue R.S. Orientation-dependent and sequence-specific expansions of CTG/CAG trinucleotide repeats in Saccharomyces cerevisiae. Proc Natl Acad Sci USA 95 (1998) 12438-12443
39. Cleary J.D., Nichol K., Wang Y.H., and Pearson C.E. Evidence of cis-acting factors in replication-mediated trinucleotide repeat instability in primate cells. Nat Genet 31 (2002) 37-46
40. Mirkin S.M. Molecular models for repeat expansions. Chemtracts: Biochem Mol Biol 17 (2004) 639-662
41. Krasilnikova M.M., and Mirkin S.M. Replication stalling at Friedreich's ataxia (GAA)n repeats in vivo. Mol Cell Biol 24 (2004) 2286-2295
42. Pelletier R., Krasilnikova M.M., Samadashwily G.M., Lahue R.S., and Mirkin S.M. Replication and expansion of trinucleotide repeats in yeast. Mol Cell Biol 23 (2003) 1349-1357
43. Samadashwily G.M., Raca G., and Mirkin S.M. Trinucleotide repeats affect DNA replication in vivo. Nat Genet 17 (1997) 298-304
44. Savouret C., Garcia-Cordier C., Megret J., te Riele H., Junien C., and Gourdon G. MSH2-dependent germinal CTG repeat expansions are produced continuously in spermatogonia from DM1 transgenic mice. Mol Cell Biol 24 (2004) 629-637
45. Owen B.A., Yang Z., Lai M., Gajek M., Badger II J.D., Hayes J.J., Edelmann W., Kucherlapati R., Wilson T.M., and McMurray C.T. (CAG)(n)-hairpin DNA binds to Msh2-Msh3 and changes properties of mismatch recognition. Nat Struct Mol Biol 12 (2005) 663-670
46. Manley K., Shirley T.L., Flaherty L., and Messer A. Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice. Nat Genet 23 (1999) 471-473
47. van den Broek W.J., Nelen M.R., Wansink D.G., Coerwinkel M.M., te Riele H., Groenen P.J., and Wieringa B. 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 (2002) 191-198
48. Kovtun I.V., and McMurray C.T. Trinucleotide expansion in haploid germ cells by gap repair. Nat Genet 27 (2001) 407-411
49. Napierala M., Dere R., Vetcher A., and Wells R.D. Structure-dependent recombination hot spot activity of GAA.TTC sequences from intron 1 of the Friedreich's ataxia gene. J Biol Chem 279 (2004) 6444-6454
50. Jakupciak J.P., and Wells R.D. Genetic instabilities in (CTG.CAG) repeats occur by recombination. J Biol Chem 274 (1999) 23468-23479
51. Richard G.-F., Goellner G.M., McMurray C.T., and Haber J.E. Recombination-induced CAG trinucleotide repeat expansions in yeast involve the MRE11-RAD50-XRS2 complex. EMBO J 19 (2000) 2381-2390
52. Nag D.K., Suri M., and Stenson E.K. Both CAG repeats and inverted DNA repeats stimulate spontaneous unequal sister-chromatid exchange in Saccharomyces cerevisiae. Nucleic Acids Res 32 (2004) 5677-5684
53. Meservy J.L., Sargent R.G., Iyer R.R., Chan F., McKenzie G.J., Wells R.D., and Wilson J.H. Long CTG tracts from the myotonic dystrophy gene induce deletions and rearrangements during recombination at the APRT locus in CHO cells. Mol Cell Biol 23 (2003) 3152-3162
54. Thornton C.A., Johnson K., and Moxley III R.T. Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes. Ann Neurol 35 (1994) 104-107
55. Kennedy L., Evans E., Chen C.M., Craven L., Detloff P.J., Ennis M., and Shelbourne P.F. Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis. Hum Mol Genet 12 (2003) 3359-3367
56. Spiro C., Pelletier R., Rolfsmeier M.L., Dixon M.J., Lahue R.S., Gupta G., Park M.S., Chen X., Mariappan S.V.S., and McMurray C.T. Inhibition of FEN-1 processing by DNA secondary structure at trinucleotide repeats. Mol Cell 4 (1999) 1079-1085
57. Henricksen L.A., Tom S., Liu Y., and Bambara R.A. Inhibition of flap endonuclease 1 by flap secondary structure and relevance to repeat sequence expansion. J Biol Chem 275 (2000) 16420-16427
58. Gordenin D.A., Kunkel T.A., and Resnick M.A. Repeat expansion - all in a flap?. Nat Genet 16 (1997) 116-118
59. Panigrahi G.B., Lau R., Montgomery S.E., Leonard M.R., and Pearson C.E. Slipped (CTG)•(CAG) repeats can be correctly repaired, escape repair or undergo error-prone repair. Nat Struct Mol Biol 12 (2005) 654-662