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To further our understanding of the regulation of vertebrate globin loci, we have isolated cosmids containing alpha- and beta-globin genes from the pufferfish Fugu rubripes. By DNA fluorescence in situ hybridization (FISH) analysis, we show that Fugu contains 2 distinct hemoglobin loci situated on separate chromosomes. One locus contains only alpha-globin genes (alpha-locus), whereas the other also contains a beta-globin gene (alpha beta-locus). This is the first poikilothermic species analyzed in which the physical linkage of the alpha- and beta-globin genes has been uncoupled, supporting a model in which the separation of the alpha- and beta-globin loci has occurred through duplication of a locus containing both types of genes. Surveys for transcription factor binding sites and DNaseI hypersensitive site mapping of the Fugu alpha beta-locus suggest that a strong distal locus control region regulating the activity of the globin genes, as found in mammalian beta-globin clusters, may not be present in the Fugu alpha beta-locus. Searching the human and mouse genome databases with the genes surrounding the pufferfish hemoglobin loci reveals that homologues of some of these genes are proximal to cytoglobin, a recently described novel member of the globin family. This provides evidence that duplication of the globin loci has occurred several times during evolution, resulting in the 5 human globin loci known to date, each encoding proteins with specific functions in specific cell types.

Original publication

DOI

10.1182/blood-2002-09-2850

Type

Journal article

Journal

Blood

Publication Date

04/2003

Volume

101

Pages

2842 - 2849

Addresses

MGC Department of Cell Biology, Erasmus MC, Rotterdam, The Netherlands.

Keywords

Erythrocytes, Animals, Mice, Transgenic, Takifugu, Humans, Mice, Globins, Evolution, Molecular, Gene Expression Regulation, Gene Duplication, Regulatory Sequences, Nucleic Acid, Locus Control Region, Consensus Sequence, Sequence Homology, Nucleic Acid, Multigene Family