Chapter 2 - Molecular genetics—the basics of gene expression

Abstract

Human beings are complex biological machines and as such require a finely tuned regulation of gene expression. Mutations in genes or alterations in regulatory sequences may alter normal expression and consequently contribute to the development of disease. Therefore, it is important to understand the basics of gene expression along with the mechanisms by which this expression may be regulated to fully understand the development of disease and how these mutations may affect treatment options. In this chapter, we provide a discussion of the basic mechanisms of gene expression, including replication, DNA repair, transcription, RNA processing, and translation. We also discuss different aspects of gene regulation including pre- and posttranscriptional mechanisms. Finally, we describe how individual mutations may alter gene expression and how understanding the basic mechanism of how these mutations alter gene expression may be important for the prescribing of precise therapies for individual patients.