Non-B DNA Conformations as Determinants of Mutagenesis and Human Disease
Non-B DNA Conformations as Determinants of Mutagenesis and Human Disease
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DOI：
10.1002/mc.20507
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发表时间：
2009-04-01
影响因子：
4.6
通讯作者：
Wells, Robert D.
中科院分区：
文献类型：
--
作者：
Bacolla, Albino;Wells, Robert D.
重复DNA基序可以折叠成非B DNA结构，包括十字形/发夹、三链体、滑动构象、四链体和左手Z-DNA，从而代表DNA修复、重组和异常DNA合成的染色体靶标，导致与神经变性和基因组病症相关的重复扩增或基因组重排。发夹和四链体也决定了脊椎动物基因组中简单重复序列（SSR）的相对丰度，而强大的碱基堆积允许嘌呤嘧啶丰富的SSR在进化过程中的扩展。SSR在调节和癌症相关基因类中富集，在这些基因类中，它们被积极招募以参与基因和蛋白质功能。人群中的SSR多态等位基因与癌症易感性相关，包括在似乎共享涉及活性氧的调节回路的基因内。(C)2009 Wiley-Liss，Inc.
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. (C) 2009 Wiley-Liss, Inc.