Abstract
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.
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Kalscheuer, V., Mariman, E., Schepens, M. et al. The insulin–like growth factor type–2 receptor gene is imprinted in the mouse but not in humans. Nat Genet 5, 74–78 (1993). https://doi.org/10.1038/ng0993-74
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DOI: https://doi.org/10.1038/ng0993-74
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