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R-loops associated with triplet repeat expansions promote gene silencing in Friedreich ataxia and fragile X syndrome

Abstract:

Friedreich ataxia (FRDA) and Fragile X syndrome (FXS) are among 40 diseases associated with expansion of repeated sequences (TREDs). Although their molecular pathology is not well understood, formation of repressive chromatin and unusual DNA structures over repeat regions were proposed to play a role. Our study now shows that RNA/DNA hybrids (R-loops) form in patient cells on expanded repeats of endogenous FXN and FMR1 genes, associated with FRDA and FXS. These transcription-dependent R-loops...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1371/journal.pgen.1004318

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Institution:
University of Oxford
Department:
Oxford, MSD, Pathology Dunn School
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Physiology Anatomy and Genetics
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Physiology Anatomy and Genetics
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Pathology Dunn School
Publisher:
Public Library of Science Publisher's website
Journal:
PLoS Genetics Journal website
Volume:
10
Issue:
5
Pages:
Article: e1004318
Publication date:
2014
DOI:
EISSN:
1553-7404
ISSN:
1553-7390
URN:
uuid:ec59e481-a3c9-4941-93c3-188a5ca21160
Source identifiers:
463196
Local pid:
pubs:463196

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