Document Detail


Expansions of CAG repeat tracts are frequent in a yeast mutant defective in Okazaki fragment maturation.
MedLine Citation:
PMID:  9384605     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
To understand the causes of CAG repeat tract changes that occur in the passage of human disease alleles, we are studying the effect of replication and repair mutations on CAG repeat tracts embedded in a yeast chromosome. In this report, we examine the effect of a mutation in the RTH1/RAD27 gene encoding a deoxyribonuclease needed for removal of excess nucleotides at the 5'-end of Okazaki fragments. Deletion of the RTH1/RAD27 gene has two effects on CAG tracts. First, the rth1/rad27 mutation destabilizes CAG tracts. Second, although most tract length changes in wild-type yeast cells are tract contractions, approximately half of the changes that occur as a result of the rth1/rad27 mutation are expansions of one or more repeat units. These results support the hypothesis that tract expansions that occur during passage of human disease alleles bearing expanded CAG tracts result from excess DNA synthesis on the lagging strand of replication.
Authors:
J K Schweitzer; D M Livingston
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Human molecular genetics     Volume:  7     ISSN:  0964-6906     ISO Abbreviation:  Hum. Mol. Genet.     Publication Date:  1998 Jan 
Date Detail:
Created Date:  1998-02-26     Completed Date:  1998-02-26     Revised Date:  2011-11-02    
Medline Journal Info:
Nlm Unique ID:  9208958     Medline TA:  Hum Mol Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  69-74     Citation Subset:  IM    
Affiliation:
Department of Biochemistry, 4-225 Millard Hall, 435 Delaware Street SE, University of Minnesota, Minneapolis, MN 55455-0347, USA.
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MeSH Terms
Descriptor/Qualifier:
Chromosomes, Fungal
Humans
Protein Kinases / genetics*
Saccharomyces cerevisiae / genetics*
Sequence Deletion*
Trinucleotide Repeats*
Grant Support
ID/Acronym/Agency:
P01NS33718/NS/NINDS NIH HHS
Chemical
Reg. No./Substance:
EC 2.7.-/Protein Kinases; EC 2.7.11.1/Checkpoint kinase 1

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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