Article
GAA instability in Friedreich's Ataxia shares a common, DNA-directed and intraallelic mechanism with other trinucleotide diseases.
Molecular cell - 1 Mar 1998
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, Richter A, Melançon S B, McMurray C T
Abstract excerpt
We show that GAA instability in Friedreich's Ataxia is a DNA-directed mutation caused by improper DNA structure at the repeat region. Unlike CAG or CGG repeats, which form hairpins, GAA repeats form a YRY triple helix containing non-Watson-Crick pairs. As with hairpins, triplex mediates intergenerational instability in 96% of transmissions. In families with Friedreich's Ataxia, the only recessive trinucleotide...
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