ArticleRNA biology
New insights into repeat instability: role of RNA•DNA hybrids.
Article in RNA biology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 44 citations in OpenAlex.
- All three MutL complexes are required for repeat expansion in a human stem cell model of CAG-repeat expansion mediated glutaminase deficiency.Scientific reports · 2024Article
- All three MutL complexes are required for repeat expansion in a human stem cell model of CAG-repeat expansion mediated glutaminase deficiency.bioRxiv : the preprint server for biology · 2024Article
- Bridging the gap: R-loop mediated genomic instability and its implications in neurological diseases.Epigenomics · 2024Review
- Relationships between genome-wide R-loop distribution and classes of recurrent DNA breaks in neural stem/progenitor cells.Scientific reports · 2022Article
- Replication Stress and Consequential Instability of the Genome and Epigenome.Molecules (Basel, Switzerland) · 2019Review
- R-Loops in Motor Neuron Diseases.Molecular neurobiology · 2019Review
- RNA-DNA hybrids promote the expansion of Friedreich's ataxia (GAA)n repeats via break-induced replication.Nucleic acids research · 2018Article
- R Loops and Links to Human Disease.Journal of molecular biology · 2017Review
- Selection pressure on human STR loci and its relevance in repeat expansion disease.Molecular genetics and genomics : MGG · 2016Article
- Translocation and deletion breakpoints in cancer genomes are associated with potential non-B DNA-forming sequences.Nucleic acids research · 2016Article
- Expanded GAA repeats impede transcription elongation through the FXN gene and induce transcriptional silencing that is restricted to the FXN locus.Human molecular genetics · 2015Article
- RNA-protein interactions in unstable microsatellite diseases.Brain research · 2014Review
- X inactivation plays a major role in the gender bias in somatic expansion in a mouse model of the fragile X-related disorders: implications for the mechanism of repeat expansion.Human molecular genetics · 2014Article
- Out of balance: R-loops in human disease.PLoS genetics · 2014Review
- A double-edged sword: R loops as threats to genome integrity and powerful regulators of gene expression.Genes & development · 2014Review
- Transcription-associated R-loop formation across the human FMR1 CGG-repeat region.PLoS genetics · 2014Article
- Inferring short tandem repeat variation from paired-end short reads.Nucleic acids research · 2014Article
- An appraisal of human mitochondrial DNA instability: new insights into the role of non-canonical DNA structures and sequence motifs.PloS one · 2013Article
- Characterization of the standard and recommended CODIS markers.Journal of forensic sciences · 2013Article
- Somatic expansion in mouse and human carriers of fragile X premutation alleles.Human mutation · 2013Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Expansion of tandem repeat sequences is responsible for more than 20 human diseases. Several cis elements and trans factors involved in repeat instability (expansion and contraction) have been identified. However no comprehensive model explaining large intergenerational or somatic changes of the length of the repeating sequences exists. Several lines of evidence, accumulated from different model studies, indicate that transcription through repeat sequences is an important factor promoting their instability. The persistent interaction between transcription template DNA and nascent RNA (RNA•DNA hybrids, R loops) was shown to stimulate genomic instability. Recently, we demonstrated that cotranscriptional RNA•DNA hybrids are preferentially formed at GC-rich trinucleotide and tetranucleotide repeat sequences in vitro as well as in human genomic DNA. Additionally, we showed that cotranscriptional formation of RNA•DNA hybrids at CTG•CAG and GAA•TTC repeats stimulate instability of these sequences in both E. coli and human cells. Our results suggest that persistent RNA•DNA hybrids may also be responsible for other downstream effects of expanded trinucleotide repeats, including gene silencing. Considering the extent of transcription through the human genome as well as the abundance of GC-rich and/or non-canonical DNA structure forming tandem repeats, RNA•DNA hybrids may represent a common mutagenic conformation. Hence, R loops are potentially attractive therapeutic target in diseases associated with genomic instability.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.