Effects Of Repetitive DNA And Epigenetics On Human Genome Regulation

The highly developed and specialized anatomical and physiological characteristics observed for eukaryotes in general and mammals in particular are underwritten by an elaborate and intricate process of genome regulation. This precise control of the location, timing and amplitude of gene expression is achieved by a variety of genetic and epigenetic tools and mechanisms. Such tools include cis- and trans- transcriptional regulation, epigenetic marks and chromosomal conformation in the nucleus [78, 79]. While all these regulatory mechanisms have been extensively studied, our understanding of the complex and diverse associations between various epigenetic marks and genetic elements with genome regulatory systems has remained incomplete. However, the last few years have seen a profound development in two areas that have significantly improved the depth and breadth to which their functions and relationships can be understood; 1) Next generation sequencing (NGS) and 2) its application in the genome-wide profiling of multiple DNA elements and functional factors. These include suites of histone modifications, transcription factors, DNA methylations and DNAse hypersensitive sites in various mammalian tissues by the ENCODE consortium and other research laboratories.