DNA methylation and replication:: Implications for the "deletion hotspot" region of FMR1
DNA methylation and replication:: Implications for the "deletion hotspot" region of FMR1
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DOI：
10.1007/s00439-005-0037-5
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发表时间：
2005-11-01
期刊：
影响因子：
5.3
通讯作者：
Pearson, CE
中科院分区：
文献类型：
--
作者：
Edamura, KN;Pearson, CE
CGG重复序列的扩增和高甲基化是脆性X综合征（FRAXA）的主要原因。在一些罕见的情况下，FRAXA患者不仅具有扩展的CGG束，而且还具有包含CGG重复序列和侧翼序列的缺失。通过使用SV40灵长类复制系统，可以确定CpG甲基化和DNA复制实际上可能介导这些罕见事件的形成。此外，遗传稳定AGG中断可以通过复制介导的CGG缺失而丢失。
Expansion and hyper-methylation of a CGG repeat tract are the main causes of fragile X syndrome (FRAXA). In some rare instances, FRAXA patients harbor not only an expanded CGG tract, but a deletion encompassing the CGG repeat and flanking sequences as well. Through the use of an SV40 primate replication system, it was possible to determine that CpG methylation and DNA replication may actually mediate the formation of these rare events. Also, the genetically stabilizing AGG interruptions can be lost by replication-mediated CGG deletions.