Identification of the human homolog of the imprinted mouse Air non-coding RNA

Genomics. 2008 Dec;92(6):464-73. doi: 10.1016/j.ygeno.2008.08.004. Epub 2008 Oct 2.


Genomic imprinting is widely conserved amongst placental mammals. Imprinted expression of IGF2R, however, differs between mice and humans. In mice, Igf2r imprinted expression is seen in all fetal and adult tissues. In humans, adult tissues lack IGF2R imprinted expression, but it is found in fetal tissues and Wilms' tumors where it is polymorphic and only seen in a small proportion of tested samples. Mouse Igf2r imprinted expression is controlled by the Air (Airn) ncRNA whose promoter lies in an intronic maternally-methylated CpG island. The human IGF2R gene carries a homologous intronic maternally-methylated CpG island of unknown function. Here, we use transfection and transgenic studies to show that the human IGF2R intronic CpG island is a ncRNA promoter. We also identify the same ncRNA at the endogenous human locus in 16-40% of Wilms' tumors. Thus, the human IGF2R gene shows evolutionary conservation of key features that control imprinted expression in the mouse.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alternative Splicing
  • Animals
  • Base Sequence
  • Conserved Sequence
  • CpG Islands
  • DNA Methylation
  • Evolution, Molecular
  • Gene Expression
  • Genomic Imprinting*
  • HeLa Cells
  • Humans
  • Introns
  • Mice
  • Mice, Transgenic
  • Polymorphism, Genetic
  • Promoter Regions, Genetic
  • RNA, Untranslated / genetics*
  • Receptor, IGF Type 2 / genetics*
  • Transcription Initiation Site
  • Transfection
  • Transgenes
  • Wilms Tumor / genetics


  • RNA, Untranslated
  • Receptor, IGF Type 2