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Role of DNA Polymerases in Repeat-Mediated Genome Instability

Expansions of simple DNA repeats cause numerous hereditary diseases in humans. We analyzed the role of DNA polymerases in the instability of Friedreich's ataxia (GAA)(n) repeats in a yeast experimental system. The elementary step of expansion corresponded to 160 bp in the wild-type strain, matching the size of Okazaki fragments in yeast. This step increased when DNA polymerase was mutated, suggesting a link between the scale of expansions and Okazaki fragment size.

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