Repeat instability during DNA repair: Insights from model systems

K Usdin, NCM House… - Critical reviews in …, 2015 - Taylor & Francis
The expansion of repeated sequences is the cause of over 30 inherited genetic diseases,
including Huntington disease, myotonic dystrophy (types 1 and 2), fragile X syndrome, many …

[HTML][HTML] Modifiers of CAG/CTG repeat instability: insights from mammalian models

VC Wheeler, V Dion - Journal of Huntington's disease, 2021 - content.iospress.com
At fifteen different genomic locations, the expansion of a CAG/CTG repeat causes a
neurodegenerative or neuromuscular disease, the most common being Huntington's …

[HTML][HTML] ATM orchestrates the DNA-damage response to counter toxic non-homologous end-joining at broken replication forks

G Balmus, D Pilger, J Coates, M Demir… - Nature …, 2019 - nature.com
Mutations in the ATM tumor suppressor gene confer hypersensitivity to DNA-damaging
chemotherapeutic agents. To explore genetic resistance mechanisms, we performed …

Regulation of recombination at yeast nuclear pores controls repair and triplet repeat stability

XA Su, V Dion, SM Gasser… - Genes & …, 2015 - genesdev.cshlp.org
Secondary structure-forming DNA sequences such as CAG repeats interfere with replication
and repair, provoking fork stalling, chromosome fragility, and recombination. In budding …

[HTML][HTML] Chromatin modifications and DNA repair: beyond double-strand breaks

NCM House, MR Koch, CH Freudenreich - Frontiers in genetics, 2014 - frontiersin.org
DNA repair must take place in the context of chromatin, and chromatin modifications and
DNA repair are intimately linked. The study of double-strand break repair has revealed …

[HTML][HTML] The chromatin landscape around DNA double-strand breaks in yeast and its influence on DNA repair pathway choice

C Frigerio, E Di Nisio, M Galli, CV Colombo… - International Journal of …, 2023 - mdpi.com
DNA double-strand breaks (DSBs) are harmful DNA lesions, which elicit catastrophic
consequences for genome stability if not properly repaired. DSBs can be repaired by either …

Structure-forming repeats and their impact on genome stability

RE Brown, CH Freudenreich - Current opinion in genetics & development, 2021 - Elsevier
Repetitive sequences throughout the genome are a major source of endogenous DNA
damage, due to the propensity of many of them to form alternative non-B DNA structures that …

Homologous recombination within repetitive DNA

EJ Polleys, CH Freudenreich - Current opinion in genetics & development, 2021 - Elsevier
Many microsatellite DNA sequences are able to form non-B form DNA secondary structures,
such as hairpin loops, cruciforms, triplex DNA or G-quadruplexes. These DNA structures can …

[HTML][HTML] Contracting CAG/CTG repeats using the CRISPR-Cas9 nickase

C Cinesi, L Aeschbach, B Yang, V Dion - Nature communications, 2016 - nature.com
CAG/CTG repeat expansions cause over 13 neurological diseases that remain without a
cure. Because longer tracts cause more severe phenotypes, contracting them may provide a …

[HTML][HTML] Homologous recombination: to fork and beyond

F Prado - Genes, 2018 - mdpi.com
Accurate completion of genome duplication is threatened by multiple factors that hamper the
advance and stability of the replication forks. Cells need to tolerate many of these blocking …