DNA methylation and replication:: Implications for the "deletion hotspot" region of FMR1

被引：18

作者：

Edamura, KN

Pearson, CE

机构：

[1] Univ Toronto, Program Mol Med Genet, Toronto, ON, Canada

[2] Hosp Sick Children, Program Genet Genom Biol, Toronto, ON M5G 1X8, Canada

来源：

HUMAN GENETICS | 2005年 / 118卷 / 02期

基金：

加拿大健康研究院;

关键词：

D O I：

10.1007/s00439-005-0037-5

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：301 / 304

页数：4

共 22 条

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