Genetic and Epigenetic Mechanisms of β-Globin Gene Switching

Biochemistry (Mosc). 2018 Apr;83(4):381-392. doi: 10.1134/S0006297918040090.

Abstract

Vertebrates have multiple forms of hemoglobin that differ in the composition of their polypeptide chains. During ontogenesis, the composition of these subunits changes. Genes encoding different α- and β-polypeptide chains are located in two multigene clusters on different chromosomes. Each cluster contains several genes that are expressed at different stages of ontogenesis. The phenomenon of stage-specific transcription of globin genes is referred to as globin gene switching. Mechanisms of expression switching, stage-specific activation, and repression of transcription of α- and β-globin genes are of interest from both theoretical and practical points of view. Alteration of balanced expression of globin genes, which usually occurs due to damage to adult β-globin genes, leads to development of severe diseases - hemoglobinopathies. In most cases, reactivation of the fetal hemoglobin gene in patients with β-thalassemia and sickle cell disease can reduce negative consequences of irreversible alterations of expression of the β-globin genes. This review focuses on the current state of research on genetic and epigenetic mechanisms underlying stage-specific switching of β-globin genes.

Publication types

  • Review

MeSH terms

  • Animals
  • Epigenesis, Genetic / genetics*
  • Genes, Switch / genetics*
  • Humans
  • beta-Globins / genetics*

Substances

  • beta-Globins