Genotype-Epigenotype Interaction at the IGF2 DMR

Genes

Susan K. Murphy¹  Erin Erginer¹  Zhiqing Huang¹  Zachary Visco¹  Cathrine Hoyo² 

[1] Department of Obstetrics and Gynecology, Division of Gynecologic Oncology, Duke University Medical Center, Box 91012, B223 LSRC Building, Durham, NC 27708, USA; E-Mails:;Department of Biological Sciences, North Carolina State University, Raleigh, NC 27695, USA; E-Mail:

关键词: Insulin-like Growth Factor II;    differentially methylated region;    polymorphism;    hypomethylation;    CpG dinucleotide;    imprinted gene;   

DOI  :  10.3390/genes6030777

来源: mdpi

【 摘 要 】

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.

【 授权许可】

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© 2015 by the authors; licensee MDPI, Basel, Switzerland.