Analysis and identification of imprinted genes

Methods. 1998 Feb;14(2):211-34. doi: 10.1006/meth.1997.0579.


Genomic imprinting in mammals results in the unequal expression of the two parental alleles of specific genes. The existence of imprinting in the mouse emerged from nuclear transplantation studies and from the abnormal phenotypes associated with uniparental inheritance of particular chromosome segments. Over the past 5 years, 20 or so imprinted genes have been identified. This has emphasized the important roles played by some imprinted genes in development, permitted a description of the epigenetic properties associated with imprinting, and provided the first insights into the regulation of imprinting. In this article, we discuss the generation of experimental material in which imprinting effects can be analyzed, review the properties of imprinted genes, and discuss how to examine them using state-of-the-art techniques. Finally, we consider the means by which new imprinted genes can be identified.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Animals
  • Chromatin / genetics
  • DNA Methylation
  • DNA Replication / genetics
  • Disease Models, Animal
  • Embryo, Mammalian / physiology
  • Gene Expression / genetics
  • Imprinting, Psychological / physiology*
  • Mice
  • Parthenogenesis / genetics
  • Phenotype
  • Polymerase Chain Reaction
  • RNA-Directed DNA Polymerase / metabolism
  • Sequence Analysis, DNA
  • Stem Cells / physiology
  • Translocation, Genetic / genetics


  • Chromatin
  • RNA-Directed DNA Polymerase