Please use this identifier to cite or link to this item: http://hdl.handle.net/2445/108826
Title: Not so pseudo: the evolutionary history of protein phosphatase 1 regulatory subunit 2 and related pseudogenes
Author: Korrodi-Gregório, Luís
Abrantes, Joana
Muller, Thorsten
Melo-Ferreira, José
Marcus, Katrin
Cruz e Silva, Odete A. B. da
Fardilha, Margarida
Esteves, Pedro José
Keywords: Gens
Genoma humà
Fosfatases
Evolució (Biologia)
Vertebrats
Genes
Human genome
Phosphatases
Evolution (Biology)
Vertebrates
Issue Date: 6-Nov-2013
Publisher: BioMed Central
Abstract: Background: pseudogenes are traditionally considered "dead" genes, therefore lacking biological functions. This view has however been challenged during the last decade. This is the case of the Protein phosphatase 1 regulatory subunit 2 (PPP1R2) or inhibitor-2 gene family, for which several incomplete copies exist scattered throughout the genome. Results: in this study, the pseudogenization process of PPP1R2 was analyzed. Ten PPP1R2-related pseudogenes (PPP1R2P1-P10), highly similar to PPP1R2, were retrieved from the human genome assembly present in the databases. The phylogenetic analysis of mammalian PPP1R2 and related pseudogenes suggested that PPP1R2P7 and PPP1R2P9 retroposons appeared before the great mammalian radiation, while the remaining pseudogenes are primate-specific and retroposed at different times during Primate evolution. Although considered inactive, four of these pseudogenes seem to be transcribed and possibly possess biological functions. Given the role of PPP1R2 in sperm motility, the presence of these proteins was assessed in human sperm, and two PPP1R2-related proteins were detected, PPP1R2P3 and PPP1R2P9. Signatures of negative and positive selection were also detected in PPP1R2P9, further suggesting a role as a functional protein. Conclusions: the results show that contrary to initial observations PPP1R2-related pseudogenes are not simple bystanders of the evolutionary process but may rather be at the origin of genes with novel functions.
Note: Reproducció del document publicat a: https://doi.org/10.1186/1471-2148-13-242
It is part of: BMC Evolutionary Biology, 2013, vol. 13, num. 242
Related resource: https://doi.org/10.1186/1471-2148-13-242
URI: http://hdl.handle.net/2445/108826
ISSN: 1471-2148
Appears in Collections:Articles publicats en revistes (Patologia i Terapèutica Experimental)

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