The neuronatin gene resides in a "micro-imprinted" domain on human chromosome 20q11.2
The neuronatin gene resides in a "micro-imprinted" domain on human chromosome 20q11.2
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DOI：
10.1006/geno.2001.6612
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发表时间：
2001-09-01
期刊：
影响因子：
4.4
通讯作者：
Jirtle, RL
中科院分区：
文献类型：
--
作者：
Evans, HK;Wylie, AA;Jirtle, RL
基因组的一小部分含有印记基因，因此仅从一个亲本等位基因表达。我们在这里报告，人类neuronatin基因（NNAT）染色体20q11.2的印记和转录特异性从父亲的等位基因。含有NNAT的区域具有多个CpG岛，甲基化分析显示其启动子区域中的1.8-kb CpG岛在所有检测的组织中表现出差异甲基化。这一发现与岛作为NNAT印记控制域的组成部分是一致的。NNAT位于编码膀胱癌相关蛋白（BLCAP）的基因的单一8.3 kb内含子内，正如我们所证明的，该基因没有印记。这项研究提供了第一个例子，据我们所知，在人类的一个印记基因包含在一个非印记基因的基因组结构。因此，NNAT是在一个印记的“微域”，使这个位点唯一适合本地化的印记调节机制的调查。
A small fraction of the genome contains genes that are imprinted and thus expressed exclusively from one parental allele. We report here that the human neuronatin gene (NNAT) on chromosome 20q11.2 is imprinted and transcribed specifically from the paternal allele. The region containing NNAT has multiple CpG islands, and methylation analysis showed that a 1.8-kb CpG island in its promoter region exhibits differential methylation in all tissues examined. This finding is consistent with the island acting as a component of the NNAT imprint control domain. NNAT lies within the singular 8.3-kb intron of the gene encoding bladder cancer-associated protein (BLCAP), which, as we demonstrate, is not imprinted. This study provides the first example, to our knowledge, in humans of an imprinted gene contained within the genomic structure of a nonimprinted gene. Thus, NNAT is in an imprinted "microdomain," making this locus uniquely suited for the investigation of mechanisms of localized imprint regulation.