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Functional Polymorphism in the Parental Imprinting of the Human IGF2RGene
- Source :
- Biochemical and Biophysical Research Communications; December 1993, Vol. 197 Issue: 2 p747-754, 8p
- Publication Year :
- 1993
-
Abstract
- The murine genes coding for insulin-like growth factor II (Igf2) and its specific receptor (Igf2r) are parentally imprinted, with exclusive expression from the paternal (Igf2) or maternal (Igf2r) gene copy. We have demonstrated that the human IGF2gene is imprinted, like its murine homologue. To examine whether the human IGF2Ris also imprinted, we used CA repeat polymorphisms of the cDNA sequence to distinguish expression from each copy. Unlike the mouse, most subjects equally expressed both gene copies. However, two out of 14 informative fetuses showed exclusive expression from the maternal gene copy. We conclude that the human IGF2Rgene is parentally imprinted, like its murine homologue, but only in a minority of individuals. This is the first direct demonstration of imprinting as a polymorphic trait, a property that had been observed in transgene methylation and predicted from the behavior of certain human tumors.
Details
- Language :
- English
- ISSN :
- 0006291X and 10902104
- Volume :
- 197
- Issue :
- 2
- Database :
- Supplemental Index
- Journal :
- Biochemical and Biophysical Research Communications
- Publication Type :
- Periodical
- Accession number :
- ejs750525
- Full Text :
- https://doi.org/10.1006/bbrc.1993.2542