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Genes 2015, 6(3), 777-789; doi:10.3390/genes6030777

Genotype-Epigenotype Interaction at the IGF2 DMR

Department of Obstetrics and Gynecology, Division of Gynecologic Oncology, Duke University Medical Center, Box 91012, B223 LSRC Building, Durham, NC 27708, USA
Department of Biological Sciences, North Carolina State University, Raleigh, NC 27695, USA
Author to whom correspondence should be addressed.
Academic Editor: J. Peter W. Young
Received: 4 May 2015 / Revised: 18 August 2015 / Accepted: 21 August 2015 / Published: 28 August 2015
(This article belongs to the Section Molecular Genetics)
View Full-Text   |   Download PDF [1417 KB, uploaded 28 August 2015]   |  


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. View Full-Text
Keywords: Insulin-like Growth Factor II; differentially methylated region; polymorphism; hypomethylation; CpG dinucleotide; imprinted gene Insulin-like Growth Factor II; differentially methylated region; polymorphism; hypomethylation; CpG dinucleotide; imprinted gene

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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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MDPI and ACS Style

Murphy, S.K.; Erginer, E.; Huang, Z.; Visco, Z.; Hoyo, C. Genotype-Epigenotype Interaction at the IGF2 DMR. Genes 2015, 6, 777-789.

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