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Non‐B DNA conformations as determinants of mutagenesis and human disease
Author(s) -
Bacolla Albino,
Wells Robert D.
Publication year - 2009
Publication title -
molecular carcinogenesis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.254
H-Index - 97
eISSN - 1098-2744
pISSN - 0899-1987
DOI - 10.1002/mc.20507
Subject(s) - biology , genetics , dna , gene , mutagenesis , genome , dna repair , human genome , mutation
Abstract Repetitive DNA motifs may fold into non‐B DNA structures, including cruciforms/hairpins, triplexes, slipped conformations, quadruplexes, and left‐handed Z‐DNA, thereby representing chromosomal targets for DNA repair, recombination, and aberrant DNA synthesis leading to repeat expansion or genomic rearrangements associated with neurodegenerative and genomic disorders. Hairpins and quadruplexes also determined the relative abundances of simple sequence repeats (SSR) in vertebrate genomes, whereas strong base stacking has permitted the expansion of purine·pyrimidine‐rich SSR during evolutionary time. SSR are enriched in regulatory and cancer‐related gene classes, where they have been actively recruited to participate in both gene and protein functions. SSR polymorphic alleles in the population are associated with cancer susceptibility, including within genes that appear to share regulatory circuits involving reactive oxygen species. © 2009 Wiley‐Liss, Inc.