GAA instability in Friedreich's Ataxia shares a common, DNA-directed and intraallelic mechanism with other trinucleotide diseases.

doi:10.1016/s1097-2765(00)80058-1

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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 intergene...

Topics

Alleles
Base Sequence
DNA
DNA-Directed DNA Polymerase
Family Health
Friedreich Ataxia
Humans
Mutation
Nucleic Acid Conformation
Pedigree
Recombination, Genetic
Trinucleotide Repeats

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PMID: 9660942
DOI: 10.1016/s1097-2765(00)80058-1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9660942-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.