IGF2 is parentally imprinted during human embryogenesis and in the Beckwith–Wiedemann syndrome
- 1 May 1993
- journal article
- research article
- Published by Springer Nature in Nature Genetics
- Vol. 4 (1), 94-97
- https://doi.org/10.1038/ng0593-94
Abstract
The phenomenon of parental imprinting involves the preferential expression of one parental allele of a subset of chromosomal genes and has so far only been documented in the mouse. We show here, by exploiting sequence polymorphisms in exon nine of the human insulin-like growth factor 2 (IGF2) gene, that only the paternally-inherited allele is active in embryonic and extra-embryonic cells from first trimester pregnancies. In addition, only the paternal allele is expressed in tissues from a patient who suffered from Beckwith-Wiedemann syndrome. Thus the parental imprinting of IGF2 appears to be evolutionarily conserved from mouse to man and has implications for the generation of the Beckwith-Wiedemann syndrome.Keywords
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