Kalscheuer V M, Mariman E C, Schepens M T, Rehder H, Ropers H H
Department of Human Genetics, University Hospital Nijmegen, The Netherlands.
Nat Genet. 1993 Sep;5(1):74-8. doi: 10.1038/ng0993-74.
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 alleles 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.
在小鼠中,已发现四个基因会发生基因组印记,导致母本和父本遗传等位基因的差异表达。为了确定同源基因在人类中是否也会发生印记,我们研究了人类胎儿和成人组织中胰岛素样生长因子2、IGF2受体和H19的等位基因特异性表达模式。与之前在小鼠中的研究结果一致,我们的结果表明,在人类胎儿组织中,父本H19等位基因是无活性的。IGF2在各种组织中呈单等位基因表达,但令人惊讶的是,在成人肝脏中不表达。人类IGF2R基因是小鼠印记的另一个经典例子,发现它从两个等位基因都有表达。我们提供了人类和小鼠基因组中差异印记的首个直接证据。