Trinucleotide repeat instability: a hairpin curve at the crossroads of replication, recombination, and repair
The trinucleotide repeats that expand to cause human disease form hairpin structures in vitro that are proposed to be the major source of their genetic instability in vivo. If a replication fork is a train speeding along a track of double-stranded DNA, the trinucleotide repeats are a hairpin curve i...
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| Veröffentlicht in: | Cytogenetic and Genome Research 2003-01, Vol.100 (1-4), p.7-24 |
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| container_title | Cytogenetic and Genome Research |
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| creator | Lenzmeier, B.A. Freudenreich, C.H. |
| description | The trinucleotide repeats that expand to cause human disease form hairpin structures in vitro that are proposed to be the major source of their genetic instability in vivo. If a replication fork is a train speeding along a track of double-stranded DNA, the trinucleotide repeats are a hairpin curve in the track. Experiments have demonstrated that the train can become derailed at the hairpin curve, resulting in significant damage to the track. Repair of the track often results in contractions and expansions of track length. In this review we introduce the in vitro evidence for why CTG/CAG and CCG/CGG repeats are inherently unstable and discuss how experiments in model organisms have implicated the replication, recombination and repair machinery as contributors to trinucleotide repeat instability in vivo. |
| doi_str_mv | 10.1159/000072836 |
| format | Article |
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If a replication fork is a train speeding along a track of double-stranded DNA, the trinucleotide repeats are a hairpin curve in the track. Experiments have demonstrated that the train can become derailed at the hairpin curve, resulting in significant damage to the track. Repair of the track often results in contractions and expansions of track length. 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| source | MEDLINE; Karger Journals; Alma/SFX Local Collection |
| subjects | DNA - chemistry DNA - genetics DNA Repair DNA repeat expansion Humans Models, Genetic Nucleic Acid Conformation Recombination, Genetic - genetics Trinucleotide Repeat Expansion - genetics |
| title | Trinucleotide repeat instability: a hairpin curve at the crossroads of replication, recombination, and repair |
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