Globin Synthesis

Steven Fiering, Dartmouth Medical School, New Hampshire, USA
David IK Martin, Victor Chang Cardiac Research Institute, Sydney, Australia
Eric E Bouhassira, Albert Einstein College of Medicine, New York, USA

Published online: April 2001

DOI: 10.1038/npg.els.0002326

Globin synthesis refers to the expression of the -like and -like globin genes in red blood cells. Mutations of these genes cause the ‘haemoglobinopathies’, the most common genetic disorders in humans. The regulation of the globin genes is not only an important model system for understanding gene expression in mammals, but a fuller understanding of this problem will lead to novel clinical approaches to the haemoglobinopathies.

Keywords: haemoglobin; -globin; -globin; thalassaemia; erythrocyte

Figure 1. Maps of the -globin locus (a) and the -globin locus (b). Expressed genes are shown as red boxes, pseudogenes are shown as white boxes and cis-regulatory elements are shown as blue boxes. Arrows denote the transcriptional direction of expressed genes. Both maps have the same scale.
Figure 2. Development of erythrocytes. The colours of the cells reflect colours seen with Wright–Giemsa staining and the cell sizes reflect sizes relative to each other.
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 References
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 Further Reading
    Forget BG (1998) Molecular basis of hereditary persistence of fetal hemoglobin. Annals of the New York Academy of Science 850: 38–45.
    Hardison R, Slightom JL, Gumucia DL et al. (1997) Locus control regions of mammalian -globin gene clusters: combining phylogenetic analyses and experimental results to gain functional insights. Gene 205: 73–94.
    Orkin SH (1995) Regulation of globin gene expression in erythroid cells. European Journal of Biochemistry 231: 271–281.

Related Sub-Topics:

Genes, Molecules and Cellular Processes | Specific Genetic Disorders | Mutational Mechanisms of Genetic Disease | Transcriptional Regulation | Posttranscriptional Modification
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Article Title: Globin Synthesis
 
How to Cite close
Fiering, Steven, Martin, David IK, and Bouhassira, Eric E(Apr 2001) Globin Synthesis. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0002326]