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MBE Advance Access published online on January 4, 2008

Molecular Biology and Evolution, doi:10.1093/molbev/msn004
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© The Author 2008. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution. All rights reserved. For permissions, please e-mail: journals.permissions@oxfordjournals.org

Research Article

Rapid rates of lineage-specific gene duplication and deletion in the {alpha}-globin gene family

Federico G. Hoffmann, Juan C. Opazo{dagger} and Jay F. Storz*

School of Biological Sciences, University of Nebraska, Lincoln, NE, 68588

* Corresponding Author: Jay F. Storz, School of Biological Sciences, University of Nebraska, Lincoln, NE, 68588, email: jstorz2{at}unl.edu, Fax: (402) 472-2083, Phone: (402) 472-1114

Received for publication November 26, 2007. Revision received December 19, 2007. Accepted for publication January 1, 2008.

Phylogeny reconstructions of the globin gene families have revealed that paralogous genes within species are often more similar to one another than they are to their orthologous counterparts in closely related species. This pattern has been previously attributed to mechanisms of concerted evolution such as interparalog gene conversion that homogenize sequence variation between tandemly duplicated genes and therefore create the appearance of recent common ancestry. Here we report a comparative genomic analysis of the {alpha}-globin gene family in mammals that reveals a surprisingly high rate of lineage-specific gene duplication and deletion via unequal crossing-over. Results of our analyses reveal that patterns of sequence similarity between paralogous {alpha}-like globin genes from the same species are only partly explained by concerted evolution between pre-existing gene duplicates. In many cases, sequence similarity between paralogous sequences from the same species is attributable to recent ancestry between the products of de novo gene duplications. As a result of this surprisingly rapid rate of gene gain and loss, many mammals possess {alpha}-like globin genes that have no orthologous counterparts in closely related species. The resultant variation in gene copy number among species may represent an important source of regulatory variation that affects physiologically important aspects of blood-oxygen transport and aerobic energy metabolism.

Key Words: birth-and-death evolution • concerted evolution • gene duplication • gene family • {alpha}-globin • hemoglobin


{dagger} Current address: Instituto de Ecologia y Evolucion, Universidad Austral de Chile, Casilla 567, Valdivia, Chile.


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