Promoter-specific imprinting of the human insulin-like growth factor-II gene

Nature. 1994 Oct 20;371(6499):714-7. doi: 10.1038/371714a0.


Genomic imprinting is a mechanism whereby only one of the two parental alleles is expressed. Loss or relaxation of genomic imprinting has been proposed as an epigenetic mechanism for oncogenesis in a variety of human tumours. Although the mechanism of imprinting is unknown, differential CpG methylation of the parental alleles has been implicated. The human insulin-like growth factor-II (IGF2) gene, which is transcribed from four promoters, P1-P4 (ref. 13), is imprinted in fetal liver but biallelic expression occurs in adult liver. Like most tissues, fetal liver uses primarily promoters P3 and P4 (ref. 17). Adult liver, however, transcribes IGF2 from promoter P1, and it has been suggested that the recruitment of P1 may be responsible for the absence of imprinting in human liver, and in choroid plexus and leptomeninges. We report here that in liver and chondrocytes, IGF2 transcripts from promoter P1 are always derived from both parental alleles, whereas transcripts from promoters P2, P3 and P4 are always from one parental allele. These findings demonstrate that imprinting and a lack of imprinting can both occur within a single gene in a single tissue, suggesting that regional imprinting factors may be important.

Publication types

  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Alleles
  • Base Sequence
  • Cartilage / cytology
  • Cartilage / embryology
  • Cartilage / metabolism
  • DNA Primers
  • Fetus
  • Genomic Imprinting*
  • Humans
  • Insulin-Like Growth Factor II / genetics*
  • Liver / embryology
  • Liver / metabolism
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • Promoter Regions, Genetic*


  • DNA Primers
  • Insulin-Like Growth Factor II