Chapter 3 - Gene expression and regulation relative to specific tissues and functions

Abstract

In this chapter, gene expression and regulation in specific processes such as erythropoiesis and growth are presented. Regulatory switches, gene silencers, integration of signals, and factors involved in the determination of cell identity are also described. Aspects of alternative splicing including relevance to developmental gene expression and evolution are reviewed. Information gathered on developmental changes in gene expression of globin genes has been applied to develop a treatment for specific hemoglobinopathies. One well-known transition involved the switch from gamma globin production to beta globin production later in prenatal development and during early postnatal life. This switch of gene expression during erythropoiesis is considered to be a model for developmental changes in gene expression. Knockout of BCL11A is used therapeutically to increase the expression of gamma-globin in humans. Studies on Sox9 expression are referred to as SOX9 expression and are considered to be an example of developmental gene expression when dosage and timing of expression are key to determining developmental outcomes. Molecular functions relative to eye development in different species, including evidence for the importance of the Pax6, are presented. Aspects of functions in particular cellular organelles that are present in almost all tissues, for example, mitochondrial and the endosomal-lysosomal system, will be considered.