Genomic imprinting in mice: Its function and mechanism

Philip A. Leighton, Jennifer R. Saam, Robert S. Ingram, Shirley M. Tilghman

Research output: Contribution to journalArticle

41 Scopus citations

Abstract

Genomic imprinting is an epigenetic phenomenon by which the two parental alleles of a gene are differentially expressed. Although the function of genomic imprinting is not clear, it has been proposed that it evolved in mammals to regulate intrauterine growth. This proposal is consistent with experiments that were designed to reveal the mechanism and impact of genomic imprinting in a region of mouse chromosome 7 that contains four imprinted genes: Mash-2 (a transcription factor) and H19 (a noncoding RNA) are maternally expressed, whereas Insulin-2 (Ins-2) and Insulin-like growth factor 2 (Igf-2) are paternally expressed. Two targeted disruptions at the locus were generated in mice; these support the hypothesis that the function of the H19 gene is to set up the imprinting of both Igf-2 and Ins-2. H19transcription on the maternal chromosome precludes transcription of the other two genes by a mechanism that involves competition for a common set of enhancers. On the paternal chromosome the H19 gene is silenced by DNA methylation, thus permitting the use of enhancers by the other genes.

Original languageEnglish (US)
Pages (from-to)273-278
Number of pages6
JournalBiology of Reproduction
Volume54
Issue number2
DOIs
StatePublished - Feb 1 1996

All Science Journal Classification (ASJC) codes

  • Reproductive Medicine
  • Cell Biology

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    Leighton, P. A., Saam, J. R., Ingram, R. S., & Tilghman, S. M. (1996). Genomic imprinting in mice: Its function and mechanism. Biology of Reproduction, 54(2), 273-278. https://doi.org/10.1095/biolreprod54.2.273