CHAPTER 43 – Models of Repair Underlying Trinucleotide DNA Expansion

作者: I.V. KOVTUN , C.T. MCMURRAY

DOI: 10.1016/B978-012369462-1/50044-2

关键词: PolymeraseGeneticsDNA synthesisCoding strandTrinucleotide repeat expansionBiophysicsBiologyDNA supercoilDNAReannealingA-DNA

摘要: This chapter focuses on repair-dependent models for the expansion at a DNA break. The first and most straightforward mechanism proposed opening was polymerase slippage during mitosis. In this model, dissociates from repeat segment template strand synthesis “slips” back to pair previously replicated triplet unit. forms an extrahelical loop that can be incorporated into DNA. Although unpairing reactions in duplex are energetically unfavorable, is possible because reaction occurs largely when falls off Because hydrogen-bonded structures appear important intermediates expansion, rapid stable intrastrand hydrogen bonding likely allow prevail over reannealing. However, mitotic replication model predicts should occur both daughter strands, relatively equal number of contraction events would expected.

参考文章(107)
C. Jankowski, F. Nasar, D. K. Nag, Meiotic instability of CAG repeat tracts occurs by double-strand break repair in yeast Proceedings of the National Academy of Sciences of the United States of America. ,vol. 97, pp. 2134- 2139 ,(2000) , 10.1073/PNAS.040460297
Geneviève Gourdon, François Radvanyi, Anne-Sophie Lia, Chantal Duros, Martine Blanche, Marc Abitbol, Claudine Junien, Hlène Hofmann-Radvanyi, Moderate intergenerational and somatic instability of a 55-CTG repeat in transgenic mice. Nature Genetics. ,vol. 15, pp. 190- 192 ,(1997) , 10.1038/NG0297-190
Craig Spiro, Richard Pelletier, Michael L Rolfsmeier, Michael J Dixon, Robert S Lahue, Goutam Gupta, Min S Park, Xian Chen, S.V.Santhana Mariappan, Cynthia T McMurray, Inhibition of FEN-1 processing by DNA secondary structure at trinucleotide repeats. Molecular Cell. ,vol. 4, pp. 1079- 1085 ,(1999) , 10.1016/S1097-2765(00)80236-1
B.A. Lenzmeier, C.H. Freudenreich, Trinucleotide repeat instability: a hairpin curve at the crossroads of replication, recombination, and repair. Cytogenetic and Genome Research. ,vol. 100, pp. 7- 24 ,(2003) , 10.1159/000072836
Dianne J. Watters, Oxidative stress in ataxia telangiectasia. Redox Report. ,vol. 8, pp. 23- 29 ,(2003) , 10.1179/135100003125001206
Seongman Kang, Adam Jaworski, Keiichi Ohshima, Robert D. Wells, Expansion and deletion of CTG repeats from human disease genes are determined by the direction of replication in E. coli Nature Genetics. ,vol. 10, pp. 213- 218 ,(1995) , 10.1038/NG0695-213
Seongman Kang, Keiichi Ohshima, Miho Shimizu, Sorour Amirhaeri, Robert D. Wells, Pausing of DNA Synthesis in Vitro at Specific Loci in CTG and CGG Triplet Repeats from Human Hereditary Disease Genes Journal of Biological Chemistry. ,vol. 270, pp. 27014- 27021 ,(1995) , 10.1074/JBC.270.45.27014
G.-F. Richard, B. Dujon, J. E. Haber, Double-strand break repair can lead to high frequencies of deletions within short CAG/CTG trinucleotide repeats. Molecular Genetics and Genomics. ,vol. 261, pp. 871- 882 ,(1999) , 10.1007/S004380050031
H. Moore, P. W. Greenwell, C.-P. Liu, N. Arnheim, T. D. Petes, Triplet repeats form secondary structures that escape DNA repair in yeast Proceedings of the National Academy of Sciences of the United States of America. ,vol. 96, pp. 1504- 1509 ,(1999) , 10.1073/PNAS.96.4.1504