Topoisomerase 1 and single-strand break repair modulate transcription-induced CAG repeat contraction in human cells.

Details

Serval ID
serval:BIB_9CCED87483F0
Type
Article: article from journal or magazin.
Collection
Publications
Title
Topoisomerase 1 and single-strand break repair modulate transcription-induced CAG repeat contraction in human cells.
Journal
Molecular and Cellular Biology
Author(s)
Hubert L., Lin Y., Dion V., Wilson J.H.
ISSN
1098-5549 (Electronic)
ISSN-L
0270-7306
Publication state
Published
Issued date
2011
Volume
31
Number
15
Pages
3105-3112
Language
english
Abstract
Expanded trinucleotide repeats are responsible for a number of neurodegenerative diseases, such as Huntington disease and myotonic dystrophy type 1. The mechanisms that underlie repeat instability in the germ line and in the somatic tissues of human patients are undefined. Using a selection assay based on contraction of CAG repeat tracts in human cells, we screened the Prestwick chemical library in a moderately high-throughput assay and identified 18 novel inducers of repeat contraction. A subset of these compounds targeted pathways involved in the management of DNA supercoiling associated with transcription. Further analyses using both small molecule inhibitors and small interfering RNA (siRNA)-mediated knockdowns demonstrated the involvement of topoisomerase 1 (TOP1), tyrosyl-DNA phosphodiesterase 1 (TDP1), and single-strand break repair (SSBR) in modulating transcription-dependent CAG repeat contractions. The TOP1-TDP1-SSBR pathway normally functions to suppress repeat instability, since interfering with it stimulated repeat contractions. We further showed that the increase in repeat contractions when the TOP1-TDP1-SSBR pathway is compromised arises via transcription-coupled nucleotide excision repair, a previously identified contributor to transcription-induced repeat instability. These studies broaden the scope of pathways involved in transcription-induced CAG repeat instability and begin to define their interrelationships.
Keywords
Cell Line, Tumor, DNA/chemistry, DNA Breaks, Single-Stranded, DNA Repair/physiology, DNA Topoisomerases, Type I/genetics, DNA Topoisomerases, Type I/metabolism, Genomic Instability, High-Throughput Screening Assays, Humans, Neurodegenerative Diseases/genetics, Phosphoric Diester Hydrolases/genetics, Phosphoric Diester Hydrolases/metabolism, Polymerase Chain Reaction, RNA Interference, RNA, Small Interfering, Small Molecule Libraries, Topoisomerase I Inhibitors/pharmacology, Transcription, Genetic, Trinucleotide Repeat Expansion/genetics
Pubmed
Web of science
Open Access
Yes
Create date
12/02/2014 17:12
Last modification date
20/08/2019 16:03
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