The Normal Structure and Regulation of Human Globin Gene Clusters

摘要: The genes encoding the different globin chains of hemoglobin are members an ancient gene family. In this chapter we will review structural features genes, with particular attention to sequences needed for proper regulation expression. Some these have been well conserved during mammalian evolution and therefore likely provide a common function in many mammals. Others only found higher primates may play roles lineage-specific regulation. We first describe characteristics human then comparative analysis genomic contexts, regulatory regions, evolutionary conservation present clusters. NUMBER AND CHROMOSOMAL LOCALIZATION OF HUMAN GLOBIN GENES Hemoglobin is heterotetramer that contains two polypeptide subunits related α-globin subfamily (referred here as α-like globins) β-globin (β-like globins). Globin polypeptides bind heme, which turn allows erythrocytes oxygen reversibly transport it from lungs respiring tissues. humans, all vertebrate species studied, β-like synthesized at progressive stages development produce hemoglobins characteristic primitive (embryonic) definitive (fetal adult) erythroid cells (Fig. 3.1). Before precise knowledge organization was gained by mapping molecular cloning, general picture number arrangement emerged genetic normal abnormal their pattern inheritance.