Human genetics '99: Trinucleotide repeats: Biological implications of the DNA structures associated with disease-causing triplet repeats

American Journal of Human Genetics

Volumn 64, Issue 2, 1999, Pages 346-353

  Sinden, Richard R ^a  

^a TEXAS A AND M HEALTH SCIENCE CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; DNA BINDING PROTEIN; HETERODUPLEX;

ANIMAL; CHEMISTRY; CONFORMATION; DEGENERATIVE DISEASE; GENETICS; HUMAN; METABOLISM; REVIEW; TRINUCLEOTIDE REPEAT;

ANIMALS; DNA; DNA-BINDING PROTEINS; HUMANS; NEURODEGENERATIVE DISEASES; NUCLEIC ACID CONFORMATION; NUCLEIC ACID HETERODUPLEXES; TRINUCLEOTIDE REPEAT EXPANSION; TRINUCLEOTIDE REPEATS;

EID: 0033070196     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302271     Document Type: Article

References (33)

1. Bacolla A, Gellibolian R, Shimizu M, Amirhaeri S, Kang S, Ohshima K, Larson JE, et al (1997) Flexible DNA -genetically unstable CTG·CAG and CGG·CCG from human hereditary neuromuscular disease genes. J Biol Chem 272: 16783-16792
2. Baran N, Lapidot A, Manor H (1987) Unusual sequence element found at the end of an amplicon. Mol Cell Biol 7: 2636-2640
3. Bianchi ME, Beltrame M (1998) Flexing DNA: HMG-box proteins and their partners. Am J Hum Genet 63:1573-1577
4. Bidichandani SI, Ashizawa T, Patel PI (1998) The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure. Am J Hum Genet 62:111-121
5. Chastain PD, Sinden RR (1998) CTG repeats associated with human genetic disease are inherently flexible. J Mol Biol 275:405-411
6. Darlow JM, Leach DRF (1998) Secondary structures in d(CGG) and d(CCG) repeat tracts. J Mol Biol 275:3-16
7. Godde JS, Kass SU, Hirst MC, Wolffe AP (1996) Nucleosome assembly on methylated CGG triplet repeats in the fragile X mental retardation gene 1 promoter. J Biol Chem 271: 24325-24328
8. Kang S, Jaworski A, Ohshima K, Wells RD (1995) Expansion and deletion of CTG triplet repeats from human disease genes are determined by the direction of replication in E. coli. Nat Genet 10:213-218
9. Krahe R, Ashizawa T, Abbruzzese C, Roeder E, Carango P, Giacanelli M, Funanage VL, et al (1995) Effect of myotonic dystrophy trinucleotide repeat expansion on DMPK transcription and processing. Genomics 28:1-14
10. Krasilnikov AS, Panyutin IG, Samadashwily GM, Cox R, Lazurkin YS, Mirkin SM (1997) Mechanisms of triplex-caused polymerization arrest. Nucleic Acids Res 25:1339-1346
11. Mitas M (1997) Trinucleotide repeats associated with human disease. Nucleic Acids Res 25:2245-2253
12. Ohshima K, Montermini L, Wells RD, 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. Ohshima K, Wells RD (1997) Hairpin formation during DNA synthesis primer realignment in vitro in triplet repeat sequences from human hereditary disease genes. J Biol Chem 272:16798-16806
14. Parsons MA, Sinden RR, Izban MG (1998) Transcriptional properties of RNA polymerase II within triplet repeat-containing DNA from the human myotonic dystrophy and fragile X loci. J Biol Chem 273:26998-27008
15. Pearson CE, Ewel A, Acharya S, Fishel RA, Sinden RR (1997) Human MSH2 binds to trinucleotide repeat DNA structures associated with neurodegenerative diseases. Hum Mol Genet 6:1117-1123
16. Pearson CE, Sinden RR (1996) Alternative DNA structures within the trinucleotide repeats of the myotonic dystrophy and fragile X locus. Biochemistry 35:5041-5053
17. Pearson CE, Sinden RR (1998a) Slipped strand DNA, dynamic mutations, and human disease. In: Wells RD, Warren ST (eds) Genetic instabilities and hereditary neurological disorders. Academic Press, San Diego, pp 585-621
18. _(1998b) Trinucleoride repeat DNA structures: dynamic mutations from dynamic DNA. Curr Opin Struct Biol 8: 321-330
19. n repeats from the myotonic dystrophy locus. Nucleic Acids Res 26:816-823
20. 27. Nucleic Acids Res 16:8077-8094
21. Samadashwily GM, Raca G, Mirkin SM (1997) Trinucleotide repeats affect DNA replication in vivo. Nat Genet 17: 298-304
22. Schumacher S, Fuchs RPP, Bichara M (1998) Expansion of CTG repeats from human disease genesis dependent upon replication mechanisms in Escherichia coli - the effect of long patch mismatch repair revisited. J Mol Biol 279: 1101-1110
23. Sinden RR (1994) DNA structure and function. Academic Press, San Diego
24. Sinden RR, Wells RD (1992) DNA structure, mutations, and human genetic disease. Curr Opin Biotechnol 3:612-622
25. Sinden RR, Zheng G, Brankamp RG, Allen KN (1991) On the deletion of inverted repeated DNA in Escherichia coli: effects of length, thermal stability, and cruciform formation in vivo. Genetics 129:991-1005
26. Timchenko LT (1999) Myotonic dystrophy: the role of RNA CUG triplet repeats. Am J Hum Genet 64:360-364 (in this issue)
27. Trinh TQ, Sinden RR (1991) Preferential DNA secondary structure mutagenesis in the lagging strand of replication in E. coli. Nature 352:544-547
28. Usdin K (1998) NGG-triplet repeats form similar intrastrand structures: implications for the triplet expansion diseases. Nucleic Acids Res 26:4078-4085
29. Wang Y-H, Gellibolian R, Shimizu M, Wells RD, Griffith J (1996) Long CCG triplet repeat blocks exclude nucleosomes - a possible mechanism for the nature of fragile sites in chromosomes. J Mol Biol 263:511-516
30. Wang Y-H, Griffith JD (1995) Expanded CTG triplet blocks from the myotonic dystrophy gene create the strongest known natural nucleosome positioning elements. Genomics 25:570-573
31. _(1996) Methylation of expanded CCG triplet repeat DNA from fragile X syndrome patients enhances nucleosome exclusion. J Biol Chem 271:22937-22940
32. Wells RD, Warren ST (1998) Genetic instabilities and hereditary neurological diseases. Academic Press, San Diego
33. Wong L-JC, Ashizawa T, Monckton DG, Caskey CT, Richards CS (1995) Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent. Am J Hum Genet 56:114-122