Ontology highlight
ABSTRACT:
SUBMITTER: Kim HM
PROVIDER: S-EPMC2580784 | biostudies-literature | 2008 Nov
REPOSITORIES: biostudies-literature
Kim Hyun-Min HM Narayanan Vidhya V Mieczkowski Piotr A PA Petes Thomas D TD Krasilnikova Maria M MM Mirkin Sergei M SM Lobachev Kirill S KS
The EMBO journal 20081002 21
Expansion of triplex-forming GAA/TTC repeats in the first intron of FXN gene results in Friedreich's ataxia. Besides FXN, there are a number of other polymorphic GAA/TTC loci in the human genome where the size variations thus far have been considered to be a neutral event. Using yeast as a model system, we demonstrate that expanded GAA/TTC repeats represent a threat to eukaryotic genome integrity by triggering double-strand breaks and gross chromosomal rearrangements. The fragility potential str ...[more]