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 …

Mutational dynamics of microsatellites

A Bhargava, FF Fuentes - Molecular biotechnology, 2010 - Springer
Microsatellites are a ubiquitous class of simple repetitive DNA sequences, which are
widespread in both eukaryotic and prokaryotic genomes. The use of microsatellites as …

R loops stimulate genetic instability of CTG· CAG repeats

Y Lin, SYR Dent, JH Wilson… - Proceedings of the …, 2010 - National Acad Sciences
Transcription stimulates the genetic instability of trinucleotide repeat sequences. However,
the mechanisms leading to transcription-dependent repeat length variation are unclear. We …

Advances in mechanisms of genetic instability related to hereditary neurological diseases

RD Wells, R Dere, ML Hebert, M Napierala… - Nucleic acids …, 2005 - academic.oup.com
Substantial progress has been realized in the past several years in our understanding of the
molecular mechanisms responsible for the expansions and deletions (genetic instabilities) …

DNA triplet repeat expansion and mismatch repair

RR Iyer, A Pluciennik, M Napierala… - Annual review of …, 2015 - annualreviews.org
DNA mismatch repair is a conserved antimutagenic pathway that maintains genomic stability
through rectification of DNA replication errors and attenuation of chromosomal …

DNA triplexes and Friedreich ataxia

RD Wells - The FASEB Journal, 2008 - Wiley Online Library
Friedreich ataxia, the most common in herited ataxia, is caused by the transcriptional
silencing of the FXN gene, which codes for the 210 amino acid frataxin, a mitochondrial …

Large-scale expansions of Friedreich's ataxia GAA repeats in yeast

AA Shishkin, I Voineagu, R Matera, N Cherng… - Molecular cell, 2009 - cell.com
Large-scale expansions of DNA repeats are implicated in numerous hereditary disorders in
humans. We describe a yeast experimental system to analyze large-scale expansions of …

The contribution of cis-elements to disease-associated repeat instability: clinical and experimental evidence

JD Cleary, CE Pearson - Cytogenetic and genome research, 2003 - karger.com
Alterations in the length (instability) of gene-specific microsatellites and minisatellites are
associated with at least 35 human diseases. This review will discuss the various cis …

Microbial genome evolution: sources of variability

A Mira, L Klasson, SGE Andersson - Current opinion in microbiology, 2002 - Elsevier
Comparative genome analyses of close relatives have yielded exciting insight into the
sources of microbial genome variability with respect to gene content, gene order and …

SRS2 and SGS1 prevent chromosomal breaks and stabilize triplet repeats by restraining recombination

A Kerrest, RP Anand, R Sundararajan… - Nature structural & …, 2009 - nature.com
Several molecular mechanisms have been proposed to explain trinucleotide repeat
expansions. Here we show that in yeast srs2 Δ cells, CTG repeats undergo both expansions …