IGF2 is parentally imprinted during human embryogenesis and in the Beckwith–Wiedemann syndrome

Nature Genetics volume 4, pages94–97(1993)Cite this article

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.

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Affiliations

  1. Department of Experimental Drug Research, Karolinska Hospital, PO Box 60 500, S-104 01, Stockholm, Sweden

    Rolf Ohlsson, Anders Nyström, Susan Pfeifer-Ohlsson, Virpi Töhönen, Fredrik Hedborg & Tomas J. Ekström

  2. Department of Anatomy, University of Cambridge, Downing Street, Cambridge, CB2 3DY, UK

    Paul Schofield

  3. Department of Obstetrics and Gynecology, Karolinska Hospital, PO Box 60 500, S-104 01, Stockholm, Sweden

    Folke Flam

Authors
  1. Rolf Ohlsson
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  2. Anders Nyström
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  3. Susan Pfeifer-Ohlsson
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  4. Virpi Töhönen
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  5. Fredrik Hedborg
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  6. Paul Schofield
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  7. Folke Flam
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  8. Tomas J. Ekström
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Ohlsson, R., Nyström, A., Pfeifer-Ohlsson, S. et al. IGF2 is parentally imprinted during human embryogenesis and in the Beckwith–Wiedemann syndrome. Nat Genet 4, 94–97 (1993). https://doi.org/10.1038/ng0593-94

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