Abstract
Epigenome contains another layer of genetic information, not as stable as genome. Dynamic epigenome can serve as an interface to explain the role of environmental factors. Stem cell and tumorigenesis are reported to be closely associated with epigenome modifications. Next generation sequencing (NGS) technologies have directly leaded to the recent advances in epigenome research of stem cell and cancer. DNA methylation and histone modification are two major epigenetic modifications. Four NGS-based approaches have been developed to identify these two epigenetic modifications, including whole genome bisulfite sequencing (WGBS), methylated DNA Immunoprecipitation Sequencing (MeDIP-Seq), reduced representation bisulfite sequencing (RRBS) and chromatin immunoprecipitation sequencing (ChIP-Seq). This paper reviews the recent advances of WGBS, MeDIP-Seq and RRBS for DNA methylation and ChIP-Seq for histone modification in the field of stem cell. The potential contribution of epigenetic modifications to tumorigenesis is also described. At present, the epigenome research still faces the defects of current sampling strategy and unknown network regulation pattern. In future, worldwide collaboration and latest sequencing technologies application are expected to solve these problem and offer new insight into epigenome research.
Highlights
Genome sequencing has great positive effect on human disease research since its emergence
The project is designed to sequence 2,500 genomes of individuals from 27 populations and obtain comprehensive genetic variants contributing to the genetic diversity in human population, such as structural variants (SV) and copy number variants (CNV)
Before the advent of Next generation sequencing (NGS) in 2005, DNA methylation microarray is usually used for genome-wide epigenome research, such as ChIP-chip, a technique combining chromatin immunoprecipitation (ChIP) with microarray technology
Summary
Genome sequencing has great positive effect on human disease research since its emergence. The pilot study of the project was finished in 2010 and revealed unprecedented number and type of genetic variants [4]. The achievements of these large projects have switched on the “big science” mode of human disease research by collaboration of worldwide scientists. As more genome sequencing researches emerged, it was found that the genetic variants of genome level were not enough to fully demonstrate and understand human disease mechanisms. It is expected to reveal the mystery by the study of another layer This further layer of information for regulating the differential gene expression was early described as ‘epigenetic control’ by Nanney in 1958 [8].
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