Ross C Hardison, Pennsylvania State University, Pennsylvania, USA
Published online: May 2008
DOI: 10.1002/9780470015902.a0005134.pub2
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: globin; globin; hemoglobin; myoglobin; cytoglobin; neuroglobin; thalassemia
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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 -globin gene complex (second map). Regions deleted in selected - and -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.
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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.,
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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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| References | |
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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. | |
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| book Forget BG, Higgs DR, Steinberg M and Nagel RL (2001) Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management. Cambridge, UK: Cambridge University Press. | |
| Forrester WC, Epner E, Driscoll MC et al. (1990) A deletion of the human -globin locus activation region causes a major alteration in chromatin structure and replication across the entire -globin locus. Genes and Development 4: 1637–1649. | |
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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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| Hardison R and Miller W (1993) Use of long sequence alignments to study the evolution and regulation of mammalian globin gene clusters. Molecular Biology and Evolution 10: 73–102. | |
| Hardison R, Slightom JL, Gumucio 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. | |
| Hardison RC, Chui DHK, Giardine B et al. (2001) HbVar: a relational database of human hemoglobin variants and thalassemia mutations at the Globin Gene Server. Human Mutation 19: 225–233. | |
| Ingram VM (1956) A specific chemical difference between globins of normal human and sickle-cell anemia hemoglobin. Nature 178: 792. | |
| Johnson RM, Prychitko T, Gumucio D et al. (2006) Phylogenetic comparisons suggest that distance from the locus control region guides developmental expression of primate beta-globin genes. Proceedings of the National Academy of Sciences of the USA 103: 3186–3191. | |
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| Web Links | |
| ePath AANAT (arylalkylamine N-acetyltransferase); LocusID: 15. Locus Link: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=15 | |
| ePath AANAT (arylalkylamine N-acetyltransferase); MIM number: 600950. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?600950 | |
| ePath CYGB (cytoglobin); LocusID: 114757. Locus Link: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=114757 | |
| ePath Globin Gene Server. The function of DNA sequences, especially those involved in production of hemoglobin http://globin.cse.psu.edu | |
| ePath HBB (hemoglobin, beta); LocusID: 3043. Locus Link: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=3043 | |
| ePath HBB (hemoglobin, beta); MIM number: 141900. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?141900 | |
| ePath MB (myoglobin); LocusID: 4151. Locus Link: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=4151 | |
| ePath MB (myoglobin); MIM number: 160000. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?160000 | |
| ePath NGB (neuroglobin); LocusID: 58157. Locus Link: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=58157 | |
| ePath NGB (neuroglobin); MIM number: 605304. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?605304 | |
| ePath UCSC Genome Bioinformatics. Genome browser http://genome.ucsc.edu | |
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