Expandable DNA repeats and human disease

SM Mirkin - Nature, 2007 - nature.com
Nearly 30 hereditary disorders in humans result from an increase in the number of copies of
simple repeats in genomic DNA. These DNA repeats seem to be predisposed to such …

Comparative genomics and molecular dynamics of DNA repeats in eukaryotes

GF Richard, A Kerrest, B Dujon - Microbiology and molecular …, 2008 - Am Soc Microbiol
Repeated elements can be widely abundant in eukaryotic genomes, composing more than
50% of the human genome, for example. It is possible to classify repeated sequences into …

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14

H Rafehi, J Read, DJ Szmulewicz, KC Davies… - The American Journal of …, 2023 - cell.com
Adult-onset cerebellar ataxias are a group of neurodegenerative conditions that challenge
both genetic discovery and molecular diagnosis. In this study, we identified an intronic (GAA) …

C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins

S Mizielinska, S Grönke, T Niccoli, CE Ridler… - Science, 2014 - science.org
An expanded GGGGCC repeat in C9orf72 is the most common genetic cause of
frontotemporal dementia and amyotrophic lateral sclerosis. A fundamental question is …

S1-END-seq reveals DNA secondary structures in human cells

G Matos-Rodrigues, N van Wietmarschen, W Wu… - Molecular cell, 2022 - cell.com
DNA becomes single stranded (ssDNA) during replication, transcription, and repair.
Transiently formed ssDNA segments can adopt alternative conformations, including …

A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus

D Pellerin, GF Del Gobbo, M Couse, E Dolzhenko… - Nature …, 2024 - nature.com
The factors driving or preventing pathological expansion of tandem repeats remain largely
unknown. Here, we assessed the FGF14 (GAA)·(TTC) repeat locus in 2,530 individuals by …

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 …

Long-read sequencing across the C9orf72 'GGGGCC' repeat expansion: implications for clinical use and genetic discovery efforts in human disease

MTW Ebbert, SL Farrugia, JP Sens… - Molecular …, 2018 - Springer
Background Many neurodegenerative diseases are caused by nucleotide repeat
expansions, but most expansions, like the C9orf72 'GGGGCC'(G 4 C 2) repeat that causes …

Chemical biology of non-canonical structures of nucleic acids for therapeutic applications

H Tateishi-Karimata, N Sugimoto - Chemical Communications, 2020 - pubs.rsc.org
DNA forms not only the canonical duplex structure but also non-canonical structures. Most
potential sequences that induce the formation of non-canonical structures are present in …

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) …