Functional Mechanisms of Microsatellite DNA in Eukaryotic Genomes.
Functional Mechanisms of Microsatellite DNA in Eukaryotic Genomes.
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DOI：
10.1093/gbe/evx164
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发表时间：
2017-09-01
影响因子：
3.3
通讯作者：
Bagshaw ATM
中科院分区：
文献类型：
--
作者：
Bagshaw ATM
微卫星重复序列DNA以其长度可变性而闻名，这与几种神经系统疾病和癌症有关，并且经常被用作遗传标记。不太为人所知的是探索微卫星广泛而惊人的多样化功能作用的工作。最近，新出现的证据包括发现正常微卫星多态性在全基因组范围内对人类基因表达的遗传性有很大贡献，这引起了人们对阐明所涉及机制的关注。目前，这些问题尚未得到充分探讨，但已经出现了几个主题。我回顾证据表明微卫星在调节转录因子结合，启动子元件之间的间距，增强子，胞嘧啶甲基化，选择性剪接，mRNA的稳定性，选择转录起始和终止位点，不寻常的结构构象，核小体定位和修饰，高阶染色质结构，非编码RNA和减数分裂重组热点的作用。
Microsatellite repeat DNA is best known for its length mutability, which is implicated in several neurological diseases and cancers, and often exploited as a genetic marker. Less well-known is the body of work exploring the widespread and surprisingly diverse functional roles of microsatellites. Recently, emerging evidence includes the finding that normal microsatellite polymorphism contributes substantially to the heritability of human gene expression on a genome-wide scale, calling attention to the task of elucidating the mechanisms involved. At present, these are underexplored, but several themes have emerged. I review evidence demonstrating roles for microsatellites in modulation of transcription factor binding, spacing between promoter elements, enhancers, cytosine methylation, alternative splicing, mRNA stability, selection of transcription start and termination sites, unusual structural conformations, nucleosome positioning and modification, higher order chromatin structure, noncoding RNA, and meiotic recombination hot spots.
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