Genotype-Epigenotype Interaction at the IGF2 DMR

Genes
Susan K MurphyCathrine Hoyo

Abstract

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.

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Citations

Jan 27, 2021·Clinical Epigenetics·Sanaz KeyhanSusan K Murphy

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Methods Mentioned

BETA
biopsies
Assay
PCR
Genome Sequencing
biopsy

Software Mentioned

PyroQ CpG
PyroMark CpG
PSQ Assay Design

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