THE INSULIN-LIKE GROWTH-FACTOR TYPE-2 RECEPTOR GENE IS IMPRINTED IN THE MOUSE BUT NOT IN HUMANS
THE INSULIN-LIKE GROWTH-FACTOR TYPE-2 RECEPTOR GENE IS IMPRINTED IN THE MOUSE BUT NOT IN HUMANS
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DOI：
10.1038/ng0993-74
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发表时间：
1993-09-01
期刊：
影响因子：
30.8
通讯作者：
ROPERS, HH
中科院分区：
文献类型：
--
作者：
KALSCHEUER, VM;MARIMAN, EC;ROPERS, HH
在小鼠中，发现四个基因经历基因组印记，导致母系和父系遗传等位基因的差异表达。为了确定是否同源基因也受到印记在人类中，我们研究了等位基因特异性表达模式的胰岛素样生长因子2，IGF2受体和H19在人类胎儿和成人组织。与先前在小鼠中的发现一致，我们的结果表明，在人类胎儿组织中，父系H19等位基因是无活性的。IGF2在各种组织中单等位基因表达，但令人惊讶的是不在成人肝脏中表达。人类IGF2R基因是小鼠印记的另一个经典例子，它被发现从两个等位基因中表达。我们提供了第一个直接的证据，在人类和小鼠基因组中的差异印迹。
In mouse, four genes have been found to undergo genomic imprinting resulting in differential expression of maternally and paternally inherited alleles. To determine whether the cognate genes are also subject to imprinting in humans, we have studied allele-specific expression patterns of insulin-like growth factor 2, IGF2-receptor and H19 in human fetal and adult tissues. In keeping with previous findings in mice, our results indicate that in human fetal tissues the paternal H19 allele is inactive. IGF2 is monoallelically expressed in various tissues but surprisingly not in adult human liver. The human IGF2R gene, another classic example of imprinting in mice, was found to be expressed from both alleles. We provide the first direct evidence for differential imprinting in the human and murine genome.