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 …

Role of astrocyte–synapse interactions in CNS disorders

E Blanco‐Suárez, ALM Caldwell… - The Journal of …, 2017 - Wiley Online Library
Astrocytes comprise half of the cells in the brain. Although astrocytes have traditionally been
described as playing a supportive role for neurons, they have recently been recognized as …

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 …

The polyG diseases: a new disease entity

T Liufu, Y Zheng, J Yu, Y Yuan, Z Wang, J Deng… - Acta Neuropathologica …, 2022 - Springer
Recently, inspired by the similar clinical and pathological features shared with fragile X-
associated tremor/ataxia syndrome (FXTAS), abnormal expansion of CGG repeats in the …

Genomic methods for measuring DNA replication dynamics

ML Hulke, DJ Massey, A Koren - Chromosome Research, 2020 - Springer
Genomic DNA replicates according to a defined temporal program in which early-replicating
loci are associated with open chromatin, higher gene density, and increased gene …

[HTML][HTML] Intersection of the fragile X-related disorders and the DNA damage response

D Kumari, J Grant-Bier, F Kadyrov, K Usdin - DNA repair, 2024 - Elsevier
Abstract The Repeat Expansion Diseases (REDs) are a large group of human genetic
disorders that result from an increase in the number of repeats in a disease-specific tandem …

Distinct epigenetic features of differentiation-regulated replication origins

OK Smith, RG Kim, H Fu, MM Martin, CM Lin… - Epigenetics & …, 2016 - Springer
Background Eukaryotic genome duplication starts at discrete sequences (replication origins)
that coordinate cell cycle progression, ensure genomic stability and modulate gene …

Fragile sites, chromosomal lesions, tandem repeats, and disease

M Mirceta, N Shum, MHM Schmidt… - Frontiers in Genetics, 2022 - frontiersin.org
Expanded tandem repeat DNAs are associated with various unusual chromosomal lesions,
despiralizations, multi-branched inter-chromosomal associations, and fragile sites. Fragile …

Trinucleotide repeat instability during double-strand break repair: from mechanisms to gene therapy

V Mosbach, L Poggi, GF Richard - Current genetics, 2019 - Springer
Trinucleotide repeats are a particular class of microsatellites whose large expansions are
responsible for at least two dozen human neurological and developmental disorders …

Common threads: aphidicolin-inducible and folate-sensitive fragile sites in the human genome

RA Lokanga, D Kumari, K Usdin - Frontiers in Genetics, 2021 - frontiersin.org
The human genome has many chromosomal regions that are fragile, demonstrating
chromatin breaks, gaps, or constrictions on exposure to replication stress. Common fragile …