Analysis of Imprinted Gene Regulation

  • David A. SkaarEmail author
  • Randy L. Jirtle
Part of the Methods in Molecular Biology book series (MIMB, volume 1589)


Genetic studies have been well established for identifying sequence variants associated with phenotypes. With the expanding field of epigenetics, and the growing understanding of epigenetic regulation of gene expression, similar studies can be undertaken to also define associations between epigenetic variation and phenotypes. Of particular interest are imprinted genes, which have parent-of-origin specific regulation and expression, and are key regulators of early development. Herein, we describe methods for examining epigenetic regulation by the two major hallmarks of imprinted genes: differentially methylated regions (DMRs), regulatory DNA sequences with allele specific methylation; and monoallelic expression, the silencing and transcription of opposite alleles in a parent-of-origin specific manner.


Imprinted gene Monoallelic expression Bisulfite conversion Differentially methylated region (DMR) Single nucleotide polymorphism (SNP) 


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Copyright information

© Springer Science+Business Media New York 2015

Authors and Affiliations

  1. 1.Department of Biological SciencesNorth Carolina State UniversityRaleighUSA
  2. 2.Department of Oncology, McArdle Laboratory for Cancer ResearchUniversity of Wisconsin-MadisonMadisonUSA
  3. 3.Department of Sport and Exercise Sciences, Institute of Sport and Physical Activity Research (ISPAR)University of BedfordshireBedford, BedfordshireUK

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