[Molecular mechanisms of globin gene regulation and disregulation]

Abstract

Human globin genes are expressed in tissue and developmental stage specific manners. Various experiments including expression studies using the transgenic mouse system have been done to elucidate molecular mechanisms of globin gene regulation. Cis-elements and transcription factors, especially erythroid specific and stage specific factors, involved in proper globin gene regulation are summarized. A model of Hb switching is discussed in terms of the interaction of LCR with each globin gene region. Molecular mechanisms deteriorating or enhancing transcription of the globin genes in diseases such as thalassemia and HPFH, are also mentioned.