ABSTRACT

It has been over 70 years since Conrad Waddington has coined the terms “epigenetics” and “epigenetic landscape” [1,2], setting off a race toward an understanding of the fundamental mechanism that mediates between genetic risks and the environment and which is ultimately responsible for “the interaction  …  with the environment” and brings the phenotype into being. The progress made in molecular biology today gives us some of the earliest insights into the molecular mechanisms behind the epigenetic phenomenon. The sign of big changes to come in biology is the fact that we have moved a long way from the rst studies demonstrating relevance of epigenetics for early organism development to the multitude of evidence of epigenetic contributions into onset, development, and manifestation of many diseases [3,4]. New approaches in personalized medicine are seen today in

CONTENTS

3.1 Introduction to Epigenetics ........................................................................ 75 3.2 Regulatory Components of Epigenetic Machinery ................................. 76

3.2.1 Epigenetic Patterns and Signatures .............................................. 78 3.2.2 DNA Modications.......................................................................... 78 3.2.3 Histone Code ....................................................................................80 3.2.4 Chromosome Conformation Signatures ...................................... 81 3.2.5 Noncoding RNA .............................................................................. 82

3.3 Aberrant Epigenetic Signatures .................................................................84 3.3.1 DNA Methylation ............................................................................84 3.3.2 Histone Modications .....................................................................85 3.3.3 Chromosome Conformation Signatures ......................................86 3.3.4 Noncoding RNA .............................................................................. 92

3.4 Diseases and Biomarkers ............................................................................ 95 3.5 Epigenetic Analysis ................................................................................... 102 Acknowledgments .............................................................................................. 104 References ............................................................................................................. 104

light of the individual epigenetic state of the patients. Biomarker readouts of epigenetic differences and deregulations help to improve early diagnosis, prognosis, and prediction of response to treatment.