Non-B DNA structure-induced genetic instability and evolution

J Zhao, A Bacolla, G Wang, KM Vasquez - Cellular and molecular life …, 2010 - Springer
Repetitive DNA motifs are abundant in the genomes of various species and have the
capacity to adopt non-canonical (ie, non-B) DNA structures. Several non-B DNA structures …

Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease

CJ Shaw, JR Lupski - Human molecular genetics, 2004 - academic.oup.com
The term 'genomic disorder'refers to a disease that is caused by an alteration of the genome
that results in complete loss, gain or disruption of the structural integrity of a dosage …

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 …

Chromosomal translocations in yeast induced by low levels of DNA polymerase: a model for chromosome fragile sites

FJ Lemoine, NP Degtyareva, K Lobachev, TD Petes - Cell, 2005 - cell.com
In the yeast Saccharomyces cerevisiae, reduced levels of the replicative α DNA polymerase
result in greatly elevated frequencies of chromosome translocations and chromosome loss …

Complex chromosomal rearrangements: origin and meiotic behavior

F Pellestor, T Anahory, G Lefort… - Human reproduction …, 2011 - academic.oup.com
BACKGROUND Complex chromosomal rearrangements (CCRs) describe structural
rearrangements, essentially translocations, involving at least three breakpoints on two or …

Non‐B DNA conformations as determinants of mutagenesis and human disease

A Bacolla, RD Wells - … in cooperation with the University of …, 2009 - Wiley Online Library
Repetitive DNA motifs may fold into non‐B DNA structures, including cruciforms/hairpins,
triplexes, slipped conformations, quadruplexes, and left‐handed Z‐DNA, thereby …

Breakpoints of gross deletions coincide with non-B DNA conformations

A Bacolla, A Jaworski, JE Larson… - Proceedings of the …, 2004 - National Acad Sciences
Genomic rearrangements are a frequent source of instability, but the mechanisms involved
are poorly understood. A 2.5-kbp poly (purine· pyrimidine) sequence from the human PKD1 …

Modeling a model: Mouse genetics, 22q11. 2 Deletion Syndrome, and disorders of cortical circuit development

DW Meechan, TM Maynard, ES Tucker… - Progress in …, 2015 - Elsevier
Understanding the developmental etiology of autistic spectrum disorders, attention
deficit/hyperactivity disorder and schizophrenia remains a major challenge for establishing …

Molecular mechanisms and diagnosis of chromosome 22q11. 2 rearrangements

BS Emanuel - Developmental disabilities research reviews, 2008 - Wiley Online Library
Several recurrent, constitutional genomic disorders are present on chromosome 22q. These
include the translocations and deletions associated with DiGeorge and velocardiofacial …

Low copy repeats mediate distal chromosome 22q11. 2 deletions: sequence analysis predicts breakpoint mechanisms

TH Shaikh, RJ O'Connor, ME Pierpont… - Genome …, 2007 - genome.cshlp.org
Genomic disorders contribute significantly to genetic disease and, as detection methods
improve, greater numbers are being defined. Paralogous low copy repeats (LCRs) mediate …