Globin Genes: Evolution


Hemoglobins carry oxygen from the lungs to other tissues and are encoded by a family of globin genes that are differentially expressed during development. Defects in expression of these globin genes lead to inherited anemias called thalassemias. Other globin genes encode proteins involved in oxygen storage and other functions.

Keywords: α globin; β globin; hemoglobin; myoglobin; cytoglobin; neuroglobin; thalassemia

Figure 1.

Maps of genes and gene complexes coding for globins in humans. An approximately 200‐kb region surrounding the globin gene or gene complex is shown, with genes transcribed from left to right shown as boxes above the lines, and those transcribed in the opposite direction shown as boxes below the lines. Globin genes are hatched; genes related to the Drosophila rhomboid‐5 (rho‐5) gene (C16orf 8) (chromosome 16 open reading frame 8) and FL J22341 (hypothetical protein FL J22341) are white; and the AANAT (arylalkylamine N‐acetyltransferase) gene is cross‐hatched. These three comprise an ancient syntenic group. Chromosomal locations are given to the left of each map. CEN and TEL: centromeric and telomeric ends of each arm of the chromosomes. LCR: the distal locus control region for the globin gene complex (top map); HS‐40: the major control region for the α‐globin gene complex (second map). Regions deleted in selected β‐ and α‐thalassemia mutations are shown as the bars beneath the top and second maps respectively. HPFH‐1, HPFH‐6: hereditary persistence of fetal hemoglobin; ps: pseudogene.

Figure 2.

Model of the evolution of vertebrate globin genes. The deduced times of duplication and divergence are shown along the horizontal axis, and contemporary human globin genes or gene complexes are shown at the top. Major events in globin gene evolution are noted along the tree, and time of origin of some major vertebrate groups is indicated along the horizontal axis. Globin genes are hatched; genes related to the Drosophila rhomboid‐5 gene are white; and the AANAT gene is cross‐hatched. (Revised and redrawn from a figure in Gillemans et al., ).

Figure 3.

Similarities and differences in globin gene structure. The protein‐coding exons of the indicated genes are drawn as dark gray rectangles, and the untranslated regions of the exons are drawn as light gray rectangles. All genes are oriented with their direction of transcription from left to right. Lines are drawn to connect homologous splice junctions.



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Further Reading

Aguileta G, Bielawski JP and Yang Z (2004) Gene conversion and functional divergence in the beta‐globin gene family. Journal of Molecular Evolution 59: 177–189.

Aguileta G, Bielawski JP and Yang Z (2006) Evolutionary rate variation among vertebrate beta globin genes: implications for dating gene family duplication events. Gene 380: 21–29.

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Gillemans N, McMorrow T, Tewari R et al. (2003) Functional and comparative analysis of globin loci in pufferfish and humans. Blood 101: 2842–2849.

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Web Links

AANAT (arylalkylamine N‐acetyltransferase); LocusID: 15. Locus Link:

AANAT (arylalkylamine N‐acetyltransferase); MIM number: 600950. OMIM:‐post/Omim/dispmim?600950

CYGB (cytoglobin); LocusID: 114757. Locus Link:

Globin Gene Server. The function of DNA sequences, especially those involved in production of hemoglobin

HBB (hemoglobin, beta); LocusID: 3043. Locus Link:

HBB (hemoglobin, beta); MIM number: 141900. OMIM:‐post/Omim/dispmim?141900

MB (myoglobin); LocusID: 4151. Locus Link:

MB (myoglobin); MIM number: 160000. OMIM:‐post/Omim/dispmim?160000

NGB (neuroglobin); LocusID: 58157. Locus Link:

NGB (neuroglobin); MIM number: 605304. OMIM:‐post/Omim/dispmim?605304

UCSC Genome Bioinformatics. Genome browser

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How to Cite close
Hardison, Ross C(Apr 2008) Globin Genes: Evolution. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0005134.pub2]