DNA Methylation and Replication: Implications for the “Deletion Hotspot” Region of FMR1

被引：0
|
作者：
K. Nichol Edamura
C. E. Pearson
机构：
[1] The Hospital for Sick Children,Program of Genetics & Genomic Biology
[2] University of Toronto,Program of Molecular & Medical Genetics
来源：
Human Genetics | 2005年 / 118卷
关键词：
Deletion Event; Repeat Tract; Deletion Frequency; Primate Replication; Deletion Product;
D O I：
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中图分类号：
学科分类号：
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.
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页码：301 / 304
页数：3
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