Insulator and silencer sequences in the imprinted region of human chromosome 11p15.5
Insulator and silencer sequences in the imprinted region of human chromosome 11p15.5
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DOI：
10.1093/hmg/ddg194
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发表时间：
2003-08-01
影响因子：
3.5
通讯作者：
Sadowski, PD
中科院分区：
文献类型：
--
作者：
Du, MJ;Beatty, LG;Sadowski, PD
人类染色体11p15.5上的基因印迹被认为是由位于H19基因上游的两个差异甲基化CpG岛（H19 DMR）和KCNQ 1基因内含子10（KvDMR）中的两个印迹控制区控制的。我们已经检查了人类11p15.5基因组印迹区域的绝缘子和沉默器的存在下，使用位置和增强子依赖性稳定转染试验的序列。我们已经证实了H19 DMR中绝缘子的存在，并在IGF 2基因中发现了两个新的绝缘子。我们还发现了两个新的沉默子序列;一个位于KvDMR中，该区域被认为包含KCNQ 1 OT 1转录物的启动子，另一个位于CDKN 1C基因中。我们已经证明了CTCF蛋白在体外与我们检测到的所有绝缘子和沉默子序列的结合。我们讨论了11号染色体上两个印记控制区对印记调控的差异。
The imprinting of the genes on human chromosome 11p15.5 is thought to be controlled by two imprinting control regions located in two differentially methylated CpG islands upstream of the H19 gene (H19 DMR) and in intron 10 of the KCNQ1 gene (KvDMR). We have examined sequences in the human 11p15.5 genomic imprinted region for the presence of insulators and silencers using a position- and enhancer-dependent stable transfection assay. We have confirmed the existence of insulators in H19 DMR and discovered two novel insulators in the IGF2 gene. We have also found two novel silencer sequences; one is located in KvDMR, a region that is thought to contain the promoter for the KCNQ1OT1 transcript, and another is in the CDKN1C gene. We have demonstrated binding of CTCF protein in vitro to all the insulator and silencer sequences that we have detected. We discuss the differences in the regulation of imprinting controlled by the two imprinting control regions in chromosome 11p.