Publication Date:
1998-02-28
Description:
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.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Freudenreich, C H -- Kantrow, S M -- Zakian, V A -- AG05740-02/AG/NIA NIH HHS/ -- GM26938/GM/NIGMS NIH HHS/ -- GM43265/GM/NIGMS NIH HHS/ -- New York, N.Y. -- Science. 1998 Feb 6;279(5352):853-6.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Molecular Biology, Princeton University, Princeton, NJ 08544, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/9452383" target="_blank"〉PubMed〈/a〉
Keywords:
*Chromosome Breakage
;
*Chromosome Fragility
;
Chromosomes, Fungal/*metabolism
;
DNA Damage
;
DNA Repair
;
DNA Replication
;
DNA, Fungal/metabolism
;
Electrophoresis, Gel, Pulsed-Field
;
Exodeoxyribonuclease V
;
Exodeoxyribonucleases/genetics
;
Gene Deletion
;
Genes, Fungal
;
Humans
;
Hydroxyurea/pharmacology
;
Recombination, Genetic
;
Saccharomyces cerevisiae/*genetics/metabolism
;
Transformation, Genetic
;
*Trinucleotide Repeat Expansion
;
Trinucleotide Repeats/*genetics
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
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