Human topoisomerases and their roles in genome stability and organization

Y Pommier, A Nussenzweig, S Takeda… - … Reviews Molecular Cell …, 2022 - nature.com
Human topoisomerases comprise a family of six enzymes: two type IB (TOP1 and
mitochondrial TOP1 (TOP1MT), two type IIA (TOP2A and TOP2B) and two type IA (TOP3A …

Cellular functions of the protein kinase ATM and their relevance to human disease

JH Lee, TT Paull - Nature Reviews Molecular Cell Biology, 2021 - nature.com
The protein kinase ataxia telangiectasia mutated (ATM) is a master regulator of double-
strand DNA break (DSB) signalling and stress responses. For three decades, ATM has been …

[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 …

Roles of eukaryotic topoisomerases in transcription, replication and genomic stability

Y Pommier, Y Sun, SN Huang, JL Nitiss - Nature reviews Molecular cell …, 2016 - nature.com
Topoisomerases introduce transient DNA breaks to relax supercoiled DNA, remove
catenanes and enable chromosome segregation. Human cells encode six topoisomerases …

The DNA damage response to transcription stress

H Lans, JHJ Hoeijmakers, W Vermeulen… - … reviews Molecular cell …, 2019 - nature.com
The spatiotemporal control of RNA polymerase II (Pol II)-mediated gene transcription is
tightly and intricately regulated. In addition, preservation of the integrity of the DNA template …

Ataxia telangiectasia: a review

C Rothblum-Oviatt, J Wright, MA Lefton-Greif… - Orphanet journal of rare …, 2016 - Springer
Definition of the disease Ataxia telangiectasia (AT) is an autosomal recessive disorder
primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency …

RNA/DNA hybrid interactome identifies DXH9 as a molecular player in transcriptional termination and R-loop-associated DNA damage

A Cristini, M Groh, MS Kristiansen, N Gromak - Cell reports, 2018 - cell.com
R-loops comprise an RNA/DNA hybrid and displaced single-stranded DNA. They play
important biological roles and are implicated in pathology. Even so, proteins recognizing …

Genome organization drives chromosome fragility

A Canela, Y Maman, S Jung, N Wong, E Callen, A Day… - Cell, 2017 - cell.com
In this study, we show that evolutionarily conserved chromosome loop anchors bound by
CCCTC-binding factor (CTCF) and cohesin are vulnerable to DNA double strand breaks …

Transcription-coupled nucleotide excision repair factors promote R-loop-induced genome instability

J Sollier, CT Stork, ML García-Rubio, RD Paulsen… - Molecular cell, 2014 - cell.com
R-loops, consisting of an RNA-DNA hybrid and displaced single-stranded DNA, are
physiological structures that regulate various cellular processes occurring on chromatin …

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 …