Abstract
The term epigenetics defines the heritable changes in gene expression that occur through changes in the chromatin structure, rather than changes in the DNA sequence. The methylation of cytosines (m5C) in CpG dinucleotides (DNA methylation) and the modification of histones are fundamental epigenetic mechanisms that regulate eukaryotic gene expression. In general, increases in DNA methylation are associated with gene silencing whereas decreases in DNA methylation are often associated with gene expression. As a result, DNA modification provides an additional level of genetic information by incorporating a fifth nucleotide into the genetic code. Epigenetic regulation has been shown to be important in cellular differentiation, embryonic development, and when abnormal - carcinogenesis and disease. Until recently studies investigating epigenetic modifications of DNA were restricted to looking at specific gene loci. High throughput genomic methods such large scale bisulphate sequencing, restriction landmark genome scanning (RLGS), CpG island microarrays and mass spectroscopy methods have now been developed that allow researchers to assay levels of DNA methylation and chromatin structure over wide areas of the genome or the entire genome - the epigenome or methylome. This new area of research has been termed epigenomics, and its aim is to describe the complete set of DNA methyation modifications within a cell. Comparative studies are presently being conducted in order to understand epigenomic differences in a number of systems. These included epigenome comparisons between undifferentiated and differentiated embryonic cells, cancerous and non-cancerous cell types, and cells exposed to varying environmental parameters. Studying global changes in DNA methylation has the potential to identify early indicators of carcinogenesis or biomarkers for conditions that alter the normal epigenomic status within an organism.
Keywords: DNA sequence, histone modifications, Methylated CpG island Amplification (MCA), microarrays, Bisulfite sequencing, Mass Spectrometry
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