Methylation analysis of KvDMR1 in human oocytes
Methylation analysis of KvDMR1 in human oocytes
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DOI：
10.1136/jmg.2006.044149
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发表时间：
2007-02-01
影响因子：
4
通讯作者：
De Rycke, Martine
中科院分区：
文献类型：
--
作者：
Geuns, Elke;Hilven, Pierre;De Rycke, Martine
最近发表的几篇报告显示，与普通人群相比，Beckwith-Wiedemann综合征患者接受辅助生殖技术（ART）的发生率更高，并且在大多数患者中发现了KvDMR1的异常甲基化印记。这导致人们担心 ART 可能会增加贝克威斯-维德曼综合征等印记综合征的发生率。对于可能干扰印记维持或重置过程的环境或遗传因素知之甚少。在核成熟不同阶段的人类卵母细胞和精子细胞中进行了 KvDMR1 的甲基化分析。结果表明，母体甲基化印记在生殖囊泡阶段就已建立，而所有精子细胞均未甲基化，从而表明KvDMR1携带生殖系甲基化印记。对于分析的其中一个卵母细胞，发现了一种非甲基化模式，这突出表明需要进一步进行考虑 ART 安全性的分子研究。
Recently, several reports have been published that showed a higher incidence of assisted reproductive technologies ( ART) in patients with Beckwith-Wiedemann syndrome compared with the general population, and in most of these patients, aberrant methylation imprints of KvDMR1 have been found. This has led to the concern that ART might increase the incidence of imprinting syndromes such as Beckwith-Wiedemann syndrome. Not much is known on environmental or genetic factors that may interfere with the processes of imprint maintenance or resetting. A methylation analysis of KvDMR1 was performed in human oocytes at different stages of nuclear maturity and in sperm cells. The results indicate that the maternal methylation imprints were already established at the germinal vesicle stage, whereas all sperm cells were unmethylated, thereby showing that the KvDMR1 carries a germline methylation imprint. For one of the oocytes analysed, an unmethylated pattern was found, which highlights the need for further molecular studies that consider the safety of ART.