Molecular mechanisms underlying nucleotide repeat expansion disorders

I Malik, CP Kelley, ET Wang, PK Todd - Nature reviews Molecular cell …, 2021 - nature.com
The human genome contains over one million short tandem repeats. Expansion of a subset
of these repeat tracts underlies over fifty human disorders, including common genetic …

[HTML][HTML] R loops: from physiological to pathological roles

T García-Muse, A Aguilera - Cell, 2019 - cell.com
DNA-RNA hybrids play a physiological role in cellular processes, but often, they represent
non-scheduled co-transcriptional structures with a negative impact on transcription …

On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability

AN Khristich, SM Mirkin - Journal of Biological Chemistry, 2020 - ASBMB
Expansions of simple tandem repeats are responsible for almost 50 human diseases, the
majority of which are severe, degenerative, and not currently treatable or preventable. In this …

R loops: new modulators of genome dynamics and function

JM Santos-Pereira, A Aguilera - Nature Reviews Genetics, 2015 - nature.com
R loops are nucleic acid structures composed of an RNA–DNA hybrid and a displaced
single-stranded DNA. Recently, evidence has emerged that R loops occur more often in the …

Sources of DNA double-strand breaks and models of recombinational DNA repair

A Mehta, JE Haber - Cold Spring Harbor perspectives in …, 2014 - cshperspectives.cshlp.org
DNA is subject to many endogenous and exogenous insults that impair DNA replication and
proper chromosome segregation. DNA double-strand breaks (DSBs) are one of the most …

A double-edged sword: R loops as threats to genome integrity and powerful regulators of gene expression

K Skourti-Stathaki, NJ Proudfoot - Genes & development, 2014 - genesdev.cshlp.org
R loops are three-stranded nucleic acid structures that comprise nascent RNA hybridized
with the DNA template, leaving the nontemplate DNA single-stranded. R loops form naturally …

R loops: from transcription byproducts to threats to genome stability

A Aguilera, T García-Muse - Molecular cell, 2012 - cell.com
RNA: DNA hybrid structures known as R loops were thought to be rare byproducts of
transcription. In the last decade, however, accumulating evidence has pointed to a new view …

The impact of short tandem repeat variation on gene expression

SF Fotsing, J Margoliash, C Wang, S Saini, R Yanicky… - Nature …, 2019 - nature.com
Short tandem repeats (STRs) have been implicated in a variety of complex traits in humans.
However, genome-wide studies of the effects of STRs on gene expression thus far have had …

Senataxin mutation reveals how R-loops promote transcription by blocking DNA methylation at gene promoters

C Grunseich, IX Wang, JA Watts, JT Burdick, RD Guber… - Molecular cell, 2018 - cell.com
R-loops are three-stranded nucleic acid structures found abundantly and yet often viewed as
by-products of transcription. Studying cells from patients with a motor neuron disease …

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

M Groh, MMP Lufino, R Wade-Martins, N Gromak - PLoS genetics, 2014 - journals.plos.org
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 …