Epigenetics: A primer for clinicians

Abstract

With recent advances in cellular biology, we now appreciate that modifications to DNA and histones can have a profound impact on transcription and function, even in the absence of changes to DNA sequence. These modifications, now commonly referred to as "epigenetic" alterations, have changed how we understand cell behavior, reprogramming and differentiation and have provided significant insight into the mechanisms underlying carcinogenesis. Epigenetic alterations, to this point, are largely identified by changes in DNA methylation and hydroxymethylation as well as methylation, acetylation, and phosphorylation of histone tails. These modifications enable significant flexibility in gene expression, rather than just turning genes "ON" or "OFF." Herein we describe the epigenetic landscape in the regulation of gene expression with a particular focus on interrogating DNA methylation in myeloid malignancy.

Keywords: 5-Hydroxymethylcytosine (5HmC); 5-Methylcytosine (5mC); Cytosine phospho-guanine (CpG); DNA methyltransferases (DNMTs); DNMT inhibitor (DNMTi); Hypomethylating agent (HMA); Ten eleven translocation (TET).