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.
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Dates
Type | When |
---|---|
Created | 23 years ago (July 27, 2002, 5:37 a.m.) |
Deposited | 1 year, 7 months ago (Jan. 13, 2024, 1 a.m.) |
Indexed | 2 weeks, 5 days ago (Aug. 5, 2025, 8:41 a.m.) |
Issued | 27 years, 6 months ago (Feb. 6, 1998) |
Published | 27 years, 6 months ago (Feb. 6, 1998) |
Published Print | 27 years, 6 months ago (Feb. 6, 1998) |
@article{Freudenreich_1998, title={Expansion and Length-Dependent Fragility of CTG Repeats in Yeast}, volume={279}, ISSN={1095-9203}, url={http://dx.doi.org/10.1126/science.279.5352.853}, DOI={10.1126/science.279.5352.853}, number={5352}, journal={Science}, publisher={American Association for the Advancement of Science (AAAS)}, author={Freudenreich, Catherine H. and Kantrow, Sara M. and Zakian, Virginia A.}, year={1998}, month=feb, pages={853–856} }