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MBE Advance Access published online on December 8, 2008

Molecular Biology and Evolution, doi:10.1093/molbev/msn281
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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

Origin of primate orphan genes: a comparative genomics approach

Macarena Toll-Riera1,2, Nina Bosch3, Nicolás Bellora1, Robert Castelo2, Lluis Armengol3, Xavier Estivill2,3 and M.Mar Albà1,2,4,*

1 Evolutionary Genomics Group, Biomedical Informatics Research Programme, Fundació Institut Municipal d'Investigació Mèdica (FIMIM), Barcelona, Spain
2 Universitat Pompeu Fabra (UPF), Barcelona, Spain
3 Genes and Disease Program, Centre for Genomic Regulation (CRG-UPF) and CIBERESP, Barcelona, Catalonia, Spain
4 Catalan Institution for Research and Advanced Studies (ICREA), Barcelona, Spain

Corresponding author contact information: M.Mar Albà, ICREA Research Professor, Biomedical Informatics Research Programme (GRIB), Fundació Institut Municipal d'Investigació Mèdica (FIMIM), Barcelona Biomedical Research Park (PRBB), Barcelona 08003, Spain, Phone: +34933160516, FAX: +34933160550, email: malba{at}imim.es

Received for publication October 22, 2008. Revision received November 26, 2008. Accepted for publication December 3, 2008.

Genomes contain a large number of genes that do not have recognisable homologues in other species, and which are likely to be involved in important species-specific adaptive processes. The origin of many such "orphan" genes remains unknown. Here we present the first systematic study of the characteristics and mechanisms of formation of primate-specific orphan genes. We determine that codon usage values for most orphan genes fall within the bulk of the codon usage distribution of bona-fide human proteins, supporting their current protein-coding annotation. We also show that primate orphan genes display distinctive features in relation to genes of wider phylogenetic distribution: higher tissue specificity; more rapid evolution and shorter peptide size. We estimate that around 24% are highly divergent members of mammalian protein families. Interestingly, around 53% of the orphan genes contain sequences derived from transposable elements and are mostly located in primate-specific genomic regions. This indicates frequent recruitment of transposable elements as part of novel genes. Finally, we also obtain evidence that a small fraction of primate orphan genes, around 5,5%, might have originated de novo from mammalian non-coding genomic regions.

Key Words: Primate-specific gene • orphan gene • novel gene formation


* To whom correspondence should be addressed


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