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 …

Replication fork stalling at natural impediments

EV Mirkin, SM Mirkin - Microbiology and molecular biology …, 2007 - Am Soc Microbiol
Accurate and complete replication of the genome in every cell division is a prerequisite of
genomic stability. Thus, both prokaryotic and eukaryotic replication forks are extremely …

[HTML][HTML] Non-B DNA conformations, genomic rearrangements, and human disease

A Bacolla, RD Wells - Journal of Biological Chemistry, 2004 - ASBMB
The history of investigations on non-B DNA conformations as related to genetic diseases
dates back to the mid-1960s. Studies with high molecular weight DNA polymers of defined …

Impact of alternative DNA structures on DNA damage, DNA repair, and genetic instability

G Wang, KM Vasquez - DNA repair, 2014 - Elsevier
Repetitive genomic sequences can adopt a number of alternative DNA structures that differ
from the canonical B-form duplex (ie non-B DNA). These non-B DNA-forming sequences …

DNA structures, repeat expansions and human hereditary disorders

SM Mirkin - Current opinion in structural biology, 2006 - Elsevier
Expansions of simple DNA repeats are responsible for more than two dozen hereditary
disorders in humans, including fragile X syndrome, myotonic dystrophy, Huntington's …

[HTML][HTML] Non-B DNA structures as a booster of genome instability

RC Duardo, F Guerra, S Pepe, G Capranico - Biochimie, 2023 - Elsevier
Non-canonical secondary structures (NCSs) are alternative nucleic acid structures that differ
from the canonical B-DNA conformation. NCSs often occur in repetitive DNA sequences and …

Replication Stalling at Friedreich's Ataxia (GAA)n Repeats In Vivo

MM Krasilnikova, SM Mirkin - Molecular and cellular biology, 2004 - Taylor & Francis
Friedreich's ataxia (GAA) n repeats of various lengths were cloned into a Saccharymyces
cerevisiae plasmid, and their effects on DNA replication were analyzed using two …

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) …

Pathogenic CANVAS (AAGGG)n repeats stall DNA replication due to the formation of alternative DNA structures

JA Hisey, EA Radchenko, NH Mandel… - Nucleic Acids …, 2024 - academic.oup.com
CANVAS is a recently characterized repeat expansion disease, most commonly caused by
homozygous expansions of an intronic (A2G3) n repeat in the RFC1 gene. There are a …

Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications

IS Rajan-Babu, E Dolzhenko, MA Eberle… - Nature Reviews …, 2024 - nature.com
Short tandem repeats (STRs) are a class of repetitive elements, composed of tandem arrays
of 1–6 base pair sequence motifs, that comprise a substantial fraction of the human genome …