@article{e4c9410c26724f588c2937eff3a1b103,
title = "GAA instability in Friedreich's Ataxia shares a common, DNA-directed and intraallelic mechanism with other trinucleotide diseases",
abstract = "We show that GAA instability in Friedreich's Ataxia is a DMA-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 disease, GAA instability is not a function of the number of long alleles, ruling out homologous recombination or gene conversion as a major mechanism. The similarity of mutation pattern among triple repeat-related diseases indicates that all trinucleotide instability occurs by a common, intraallelic mechanism that depends on DNA structure. Secondary structure mediates instability by creating strong polymerase pause sites at or within the repeats, facilitating slippage or sister chromatid exchange.",
author = "Gacy, {A. Marquis} and Goellner, {Geoffrey M.} and Craig Spiro and Xian Chen and Goutam Gupta and Bradbury, {E. Morton} and Dyer, {Roy B.} and Mikesell, {Marci J.} and Yao, {Janet Z.} and Johnson, {Aaron J.} and Andrea Richter and Melan{\c c}on, {Serge B.} and McMurray, {Cynthia T.}",
note = "Funding Information: We thank Dr. W. S. Brimijoin, Dr. L. J. Maher, III, Dr. S. S. Sommer, Dr. A. Terzic, Dr. S. N. Thibodeau, and Dr. R. M. Weinshilboum for critical review; J. Poivier, J. Mercier, and D. Julien for technical expertise; and D. Schwerman for manuscript preparation. This work was supported by the Mayo Foundation, National Institutes of Health (DK 43694-01A2), and National Science Foundation (IBN 9222848) (C. T. M.); the Muscular Dystrophy Association of Canada and Fonds de la Recherche en Sant{\'e} du Qu{\'e}bec-Association Canadienne de l'Ataxie de Friedreich (A. R.); and Fonds de la Recherche en Sant{\'e} du Qu{\'e}bec-Reseau de G{\'e}n{\'e}tique Humaine Appliqu{\'e}e (S. B. M.).",
year = "1998",
month = mar,
doi = "10.1016/S1097-2765(00)80058-1",
language = "English (US)",
volume = "1",
pages = "583--593",
journal = "Molecular Cell",
issn = "1097-2765",
publisher = "Cell Press",
number = "4",
}