Document Detail


Genomic instability and cancer: lessons from analysis of Bloom's syndrome.
MedLine Citation:
PMID:  19442250     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Bloom's syndrome (BS) is a rare autosomal recessive disorder characterized by genomic instability and cancer predisposition. The underlying genetic defect is mutation of the BLM gene, producing deficiency in the RecQ helicase BLM (Bloom's syndrome protein). The present article begins by introducing BLM and its binding partners before reviewing its known biochemical activities and its potential roles both as a pro-recombinase and as a suppressor of homologous recombination. Finally, the evidence for an emerging role in mitotic chromosome segregation is examined.
Authors:
Miranda Payne; Ian D Hickson
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Biochemical Society transactions     Volume:  37     ISSN:  1470-8752     ISO Abbreviation:  Biochem. Soc. Trans.     Publication Date:  2009 Jun 
Date Detail:
Created Date:  2009-05-15     Completed Date:  2009-09-29     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7506897     Medline TA:  Biochem Soc Trans     Country:  England    
Other Details:
Languages:  eng     Pagination:  553-9     Citation Subset:  IM    
Affiliation:
Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.
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MeSH Terms
Descriptor/Qualifier:
Bloom Syndrome / genetics*,  metabolism
DNA Breaks, Double-Stranded
DNA Repair
Genomic Instability*
Humans
Mitosis / genetics
Models, Genetic
Mutation
Neoplasms / genetics*,  metabolism
Protein Binding
RecQ Helicases / genetics*,  metabolism
Recombination, Genetic
Grant Support
ID/Acronym/Agency:
//Cancer Research UK
Chemical
Reg. No./Substance:
EC 3.6.1.-/Bloom syndrome protein; EC 3.6.1.-/RecQ Helicases

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


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