In the Human Gene Mutation Database (www.hgmd.org), microdeletions and microinsertions causing inherited disease (both defined as involving < or = 20 bp of DNA) account for 8,399 (17%) and 3,345 (7%) logged mutations, in 940 and 668 genes, respectively. A positive correlation was noted between the m
Non-B DNA conformations as determinants of mutagenesis and human disease
โ Scribed by Albino Bacolla; Robert D. Wells
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 207 KB
- Volume
- 48
- Category
- Article
- ISSN
- 0899-1987
- DOI
- 10.1002/mc.20507
No coin nor oath required. For personal study only.
โฆ Synopsis
Abstract
Repetitive DNA motifs may fold into nonโB DNA structures, including cruciforms/hairpins, triplexes, slipped conformations, quadruplexes, and leftโhanded ZโDNA, 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 purineยทpyrimidineโrich SSR during evolutionary time. SSR are enriched in regulatory and cancerโrelated 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. ยฉ 2009 WileyโLiss, Inc.
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