The term epigenetics describes regulatory and information storing
mechanisms of specific genes that do not involve any change of their DNA
sequence. Epigenetics is closely related to the extensively folded
state, in which the genome is packaged, known as chromatin. New genomic
tools nowadays allow the genome-wide assessment of, for example,
chromatin states and DNA modifications, and led to the discovery of
unexpected new epigenetic principles, such as epigenomic memory. This
was the start of the field of epigenomics, the relation of which to
human health and disease is discussed in this textbook.
This book aims to summarize, in a condensed form, the role of
epigenomics in defining chromatin states that are representative of
active genes (euchromatin) and repressed genes (heterochromatin).
Moreover, this book discusses the principles of gene regulation,
chromatin stability, genomic imprinting and the reversibility of DNA
methylation and histone modifications. This information should enable a
better understanding of cell type identities and will provide new
directions for studies of, for example, cellular reprograming, the
response of chromatin to environmental signals and epigenetic therapies
that can improve or restore human health. In order to facilitate the
latter, we favor a high figure-to-text ratio following the rule "a
picture tells more than thousand words".
The content of the book is based on the lecture course "Molecular
Medicine and Genetics" that is given by one of us (C. Carlberg) in
different forms since 2002 at the University of Eastern Finland in
Kuopio. Thematically, this book is located between our textbooks
"Mechanisms of Gene Regulation" (ISBN 978-94-017-7741-4) and
"Nutrigenomics" (ISBN 978-3-319-30415-1), studying of which may also be
interesting to our readers. The book is sub-divided into three sections
and 13 chapters. Following the Introduction (section A), section B will
explain the molecular basis of epigenomics, while section C will provide
examples for the impact of epigenomics in human health and disease. The
lecture course is primarily designed for Master level students of
biomedicine, but is also frequented by PhD students as well as by
students of other bioscience disciplines.
Besides its value as a textbook, Human Epigenomics will be a useful
reference for individuals working in biomedicine.
