Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib
Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib
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DOI：
10.1038/ng1487
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发表时间：
2005-01-01
期刊：
影响因子：
30.8
通讯作者：
Jüppner, H
中科院分区：
文献类型：
--
作者：
Bastepe, M;Fröhlich, LF;Jüppner, H
印迹GNAS簇中的表观遗传缺陷与拟甲状腺功能低下的IB型有关。在两种患有这种疾病的同类物质中，我们现在报告了消除反义转录本的外显子Nesp55和外显子3和4的差异甲基化区域的缺失。当从女性继承后，删除会取消所有母体GNA烙印并消除母体沉默的转录本，这表明已删除的区域包含一个顺式作用元件，可控制母体GNA等位基因的印记。
Epigenetic defects in the imprinted GNAS cluster are associated with pseudohypoparathyroidism type Ib. In two kindreds with this disorder, we now report deletions that remove the differentially methylated region encompassing exon NESP55 and exons 3 and 4 of the antisense transcript. When inherited from a female, either deletion abolishes all maternal GNAS imprints and derepresses maternally silenced transcripts, suggesting that the deleted region contains a cis-acting element that controls imprinting of the maternal GNAS allele.