Determinants of R-loop formation at convergent bidirectionally transcribed trinucleotide repeats

K Reddy, M Tam, RP Bowater, M Barber… - Nucleic acids …, 2011 - academic.oup.com
R-loops have been described at immunoglobulin class switch sequences, prokaryotic and
mitochondrial replication origins, and disease-associated (CAG) n and (GAA) n trinucleotide …

R loops and links to human disease

P Richard, JL Manley - Journal of molecular biology, 2017 - Elsevier
Aberrant R-loop structures are increasingly being realized as an important contributor to
human disease. R loops, which are mainly co-transcriptional, abundant RNA/DNA hybrids …

Processing of double-R-loops in (CAG)·(CTG) and C9orf72 (GGGGCC)·(GGCCCC) repeats causes instability

K Reddy, MHM Schmidt, JM Geist… - Nucleic acids …, 2014 - academic.oup.com
R-loops, transcriptionally-induced RNA: DNA hybrids, occurring at repeat tracts (CTG)
n,(CAG) n,(CGG) n,(CCG) n and (GAA) n, are associated with diseases including myotonic …

Trinucleotide repeat DNA structures: dynamic mutations from dynamic DNA

CE Pearson, RR Sinden - Current opinion in structural biology, 1998 - Elsevier
Models for the disease-associated expansion of (CTG) n·(CAG) n,(CGG) n·(CCG) n, and
(GAA) n·(TTC) n trinucleotide repeats involve alternative DNA structures formed during DNA …

Mechanism of R-loop formation at immunoglobulin class switch sequences

D Roy, K Yu, MR Lieber - Molecular and cellular biology, 2008 - Taylor & Francis
R-loops have been described in vivo at the immunoglobulin class switch sequences and at
prokaryotic and mitochondrial origins of replication. However, the biochemical mechanism …

R-loops: targets for nuclease cleavage and repeat instability

CH Freudenreich - Current genetics, 2018 - Springer
R-loops form when transcribed RNA remains bound to its DNA template to form a stable
RNA: DNA hybrid. Stable R-loops form when the RNA is purine-rich, and are further …

Biological implications of the DNA structures associated with disease-causing triplet repeats

RR Sinden - The American Journal of Human Genetics, 1999 - cell.com
Within the last 6–8 years, the remarkable revelation that many neurodegenerative diseases
are caused by the expansion of triplet repeats has prompted a great deal of research …

Trinucleotide repeats associated with human disease

M Mitas - Nucleic acids research, 1997 - academic.oup.com
Triplet repeat expansion diseases (TREDs) are characterized by the coincidence of disease
manifestation with amplification of d (CAG· CTG), d (CGG· CCG) or d (GAA· TTC) repeats …

Genetically unstable CXG repeats are structurally dynamic and have a high propensity for folding. An NMR and UV spectroscopic study

M Zheng, X Huang, GK Smith, X Yang, X Gao - Journal of molecular biology, 1996 - Elsevier
Recent molecular genetics studies have revealed a correlation between spontaneous,
progressive expansion of several DNA trinucleotide repeats and certain hereditary …

R-loop analysis by dot-blot

P Ramirez, RJ Crouch, VG Cheung… - Journal of visualized …, 2021 - pmc.ncbi.nlm.nih.gov
The three-stranded nucleic acid structure, R-loop, is increasingly recognized for its role in
gene regulation. Initially, R-loops were thought to be the by-products of transcription; but …