Genotype-Epigenotype Interaction at the IGF2 DMR.

Journal Article (Journal Article)

Paternally expressed Insulin-like Growth Factor II (IGF2) encodes a gene whose protein product functions as a potent growth mitogen. Overexpression of IGF2 has been implicated in a wide number of disorders and diseases. IGF2 is regulated in part by differential methylation of the two parentally derived alleles. The differentially methylated region (DMR) located upstream of the imprinted promoters of IGF2 exhibits plasticity under environmental stress and is hypomethylated in several types of cancer. Through bisulfite pyrosequencing and confirmation by nucleotide sequencing, we discovered a CpG to CpC transversion that results in hypomethylation of one of the three CpGs comprising this DMR. The presence of the polymorphism introduces a genetic rather than an environmentally-driven epigenetic source of hypomethylation that is additive to non-genetic sources.

Full Text

Duke Authors

Cited Authors

  • Murphy, SK; Erginer, E; Huang, Z; Visco, Z; Hoyo, C

Published Date

  • August 28, 2015

Published In

Volume / Issue

  • 6 / 3

Start / End Page

  • 777 - 789

PubMed ID

  • 26343731

Pubmed Central ID

  • PMC4584329

International Standard Serial Number (ISSN)

  • 2073-4425

Digital Object Identifier (DOI)

  • 10.3390/genes6030777


  • eng

Conference Location

  • Switzerland