Title: Genomic organization and differential signature of positive selection in the alpha and beta globin gene clusters in two cetacean species
Author: Nery, M. F.; Arroyo, J. I.; Opazo, J. C.
Is part of: Genome Biology and Evolution, v. 5, p. 2359 - 2367
Citation: Nery, M. F.; Arroyo, J. I.; Opazo, J. C.; Genomic organization and differential signature of positive selection in the alpha and beta globin gene clusters in two cetacean species. Genome Biology and Evolution, v.5, p. 2359-2367, 2013
Abstract: The hemoglobin of jawed vertebrates is a heterotetramer protein that contains two alpha- and two beta-chains, which are encoded by members of alpha- and beta-globin gene families. Given the hemoglobin role in mediating an adaptive response to chronic hypoxia, it is likely that this molecule may have experienced a selective pressure during the evolution of cetaceans, which have to deal with hypoxia tolerance during prolonged diving. This selective pressure could have generated a complex history of gene turnover in these clusters and/or changes in protein structure themselves. Accordingly, we aimed to characterize the genomic organization of alpha- and beta-globin gene clusters in two cetacean species and to detect a possible role of positive selection on them using a phylogenetic framework. Maximum likelihood and Bayesian phylogeny reconstructions revealed that both cetacean species had retained a similar complement of putatively functional genes. For the alpha-globin gene cluster, the killer whale presents a complement of genes composed of HBZ, HBK, and two functional copies of HBA and HBQ genes, whereas the dolphin possesses HBZ, HBK, HBA and HBQ genes, and one HBA pseudogene. For the beta-globin gene cluster, both species retained a complement of four genes, two early expressed genes-HBE and HBH-and two adult expressed genes-HBD and HBB. Our natural selection analysis detected two positively selected sites in the HBB gene (56 and 62) and four in HBA (15, 21, 49, 120). Interestingly, only the genes that are expressed during the adulthood showed the signature of positive selection.
Funding: This study was funded by the Fondo Nacional de Desarrollo Cientifico y Tecnologico (FONDECYT 1120032) grant to J.C.O. and the Direccion de Investigacion y Desarrollo (DID), Universidad Austral de Chile, grant to M.F.N. M.F.N. holds a CONICYT doctoral fellowship. The authors also thank El Gobernador for helpful comments and edits.