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Expansion and length-dependent fragility of CTG repeats in yeast
C H Freudenreich1, S M Kantrow, V A Zakian
1Department of Molecular Biology, Princeton University, Princeton, NJ 08544, USA.
Science (New York, N.Y.)
|February 28, 1998
Abstract:
Expansion of DNA trinucleotide repeats (TNRs) is the causative mutation in a growing number of human genetic diseases. Large expansions of a CTG tract were obtained and shown by genetic and physical assays to be length-dependent sites of chromosome breakage in Saccharomyces cerevisiae. Deletion of RAD27, which encodes a nuclease involved in Okazaki fragment processing, caused length-dependent destabilization of CTG tracts and a substantial increase in expansion frequency. The genetic assay described here can be used to evaluate other factors that induce TNR expansion or chromosome fragility in humans.