Non-B DNA: a major contributor to small-and large-scale variation in nucleotide substitution frequencies across the genome

WM Guiblet, MA Cremona, RS Harris… - Nucleic Acids …, 2021 - academic.oup.com
Approximately 13% of the human genome can fold into non-canonical (non-B) DNA
structures (eg G-quadruplexes, Z-DNA, etc.), which have been implicated in vital cellular …

Noncanonical secondary structures arising from non-B DNA motifs are determinants of mutagenesis

I Georgakopoulos-Soares, S Morganella… - Genome …, 2018 - genome.cshlp.org
Somatic mutations show variation in density across cancer genomes. Previous studies have
shown that chromatin organization and replication time domains are correlated with, and …

Neighboring-nucleotide effects on single nucleotide polymorphisms: a study of 2.6 million polymorphisms across the human genome

Z Zhao, E Boerwinkle - Genome research, 2002 - genome.cshlp.org
We investigated substitution patterns and neighboring-nucleotide effects for 2,576,903
single nucleotide polymorphisms (SNPs) publicly available through the National Center for …

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 …

Neutral substitutions occur at a faster rate in exons than in noncoding DNA in primate genomes

S Subramanian, S Kumar - Genome research, 2003 - genome.cshlp.org
Point mutation rates in exons (synonymous sites) and noncoding (introns and intergenic)
regions are generally assumed to be the same. However, comparative sequence analyses …

Dynamic alternative DNA structures in biology and disease

G Wang, KM Vasquez - Nature Reviews Genetics, 2023 - nature.com
Repetitive elements in the human genome, once considered 'junk DNA', are now known to
adopt more than a dozen alternative (that is, non-B) DNA structures, such as self-annealed …

Impact of replication timing on non-CpG and CpG substitution rates in mammalian genomes

CL Chen, A Rappailles, L Duquenne, M Huvet… - Genome …, 2010 - genome.cshlp.org
Neutral nucleotide substitutions occur at varying rates along genomes, and it remains a
major issue to unravel the mechanisms that cause these variations and to analyze their …

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 …

Wide variations in neighbor-dependent substitution rates

ST Hess, JD Blake, RD Blake - Journal of molecular biology, 1994 - Elsevier
The pattern of 20,200 point substitutions in the 16 unique neighbor-pair environments has
been determined from aligned gene/pseudogene sequences in the current database of …

[HTML][HTML] Hotspots of biased nucleotide substitutions in human genes

J Berglund, KS Pollard, MT Webster - PLoS biology, 2009 - journals.plos.org
Genes that have experienced accelerated evolutionary rates on the human lineage during
recent evolution are candidates for involvement in human-specific adaptations. To …