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MBE Advance Access published online on September 21, 2005
Molecular Biology and Evolution, doi:10.1093/molbev/msj025
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© The Author 2005. 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
Accepted September 15, 2005

Research Article

A Hotspot of Gene Order Rearrangement by Tandem Duplication and Random Loss in the Vertebrate Mitochondrial Genome

Diego San Mauro 1*, David J. Gower 2, Mark Wilkinson 2, and Rafael Zardoya 1

1 Departamento de Biodiversidad y Biología Evolutiva. Museo Nacional de Ciencias Naturales, CSIC. José Gutiérrez Abascal, 2. 28006, Madrid. Spain
2 Department of Zoology. The Natural History Museum. Cromwell Road. London SW7 5BD. United Kingdom

* To whom correspondence should be addressed.
Diego San Mauro, E-mail: diegos{at}mncn.csic.es


  Abstract

Most reported examples of change in vertebrate mitochondrial (mt) gene order could be explained by a tandem duplication followed by random loss of redundant genes (TDRL model). Under this model of evolution, remnant pseudogenes, and independent loss of genes arising from a single duplication in an ancestral species are expected to be intermediate states that may remain on rearranged genomes. However, evidence for this is rare and largely scattered across vertebrate lineages. Here, we report new derived mt gene orders in the vertebrate "WANCY" region of four closely related caecilian amphibians. The novel arrangements found in this genomic region (one of them is convergent with the derived arrangement of marsupials), presence of pseudogenes, and positions of intergenic spacers fully satisfy predictions from the TDRL model. Our results, together with comparative data for the available vertebrate complete mt genomes, provide further evidence that the WANCY genomic region is a hotspot for gene order rearrangements and support the view that TDRL is the dominant mechanism of gene order rearrangement in vertebrate mitochodrial genomes. Convergent gene rearrangements are not unlikely in hotspots of gene order rearrangement by TDRL.

Keywords: Gene rearrangement; Tandem duplication; Gene loss; Mitochondrial genome; Convergent rearrangement; Gymnophiona.
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