It is now well established that the interplay of sequence‑specific DNA binding proteins with chromatin components and the subsequent expression of differential genetic programs is the major determinant of developmental decisions. The last years have seen an explosion of basic research that has significantly enhanced our understanding of the basic principles of gene expression control. While many questions are still open, we are now at the stage where we can exploit this knowledge to address questions of how deregulated gene expression and aberrant chromatin programming contributes to disease processes. This chapter will give a basic introduction into the principles of epigenetics and the determinants of chromatin structure and will discuss the molecular mechanisms of aberrant gene regulation in blood cell diseases, such as inflammation and leukemia.
It is now well established that the interplay of sequence‑specific DNA binding proteins with chromatin components and the subsequent expression of differential genetic programs is the major determinant of developmental decisions. The last years have seen an explosion of basic research that...
Eukaryotic genomic information is modulated by a variety of epigenetic modifications that play both a direct role in establishing transcription profiles, modulation of DNA replication and repair processes and also indirect effects on the aforementioned processes through the organization of DNA...
In the 19th century Gregor Mendel defined the laws of genetic inheritance by crossing different types of peas. From these results arose his principle of equivalence: the gene will have the same behaviour whether it is inherited from the mother or the father. Today, several key exceptions to...
Nowadays, epigenetics is one of the fastest growing research areas in biomedicine. Studies have demonstrated that changes in the epigenome are not only common in cancer, but are also involved in the pathogenesis of noncancerous diseases like immunological, cardiovascular, developmental and...
This chapter describes recent advances in our understanding how epigenetic events control immune functions with emphasis on transcriptional regulation of major histocompatibility complex Class I (MHC‑I) and Class II (MHC‑II) genes. MHC‑I and MHC‑II molecules play an essential role in...
Although not exclusive, mounting evidence supports the fact that DNA methylation at CpG dinucleotides controls B‑cell development and the progressive elimination or inactivation of autoreactive B cell. Indeed, the expression of different B cell specific factors, including Pax5, rearrangement...
Epstein–Barr virus (EBV) is a human herpesvirus that persists in the memory B-cells of the majority of the world population in a latent form. Primary EBV infection is asymptomatic or causes a self‑limiting disease, infectious mononucleosis. Virus latency is associated with a wide variety...
IIn recent years, compelling evidence has been gathered that supports a role for epigenetic alterations in the pathogenesis of systemic lupus erythematosus (SLE). Different blood cell populations of SLE patients are characterized by a global loss of DNA methylation. This process is associated...
There is growing evidence for a role for epigenetic mechanisms in the development of autoimmune diseases. In most cases of autoimmune disease the precise epigenetic mechanism involved remains to be resolved, however DNA hypomethylation accompanied by hypoacetylation of histone H3/H4 is...
In this chapter, we discuss the current understanding of the possible epigenetics changes that occur in rheumatoid arthritis. In particular, we describe that deregulation of DNA methylation and histone modifications can occur in the immune system and lead to rheumatoid arthritis. In addition,...
Lymphocyte differentiation from haematopoietic stem cells (HSCs) is a multi‑step process in which lineage fate choices are made at crucial branch points. Plasticity of common precursors is evidenced by presence of transcriptionally favourable chromatin structures at several...
Autoimmune diseases, which comprise over 80 clinically distinct conditions, are characterized by the presence of autoantibodies or autoreactive T cells directed against self structures (autoantigens). While these often incurable disorders appear to be rapidly increasing in recognition...