13 research outputs found
Not so pseudo: the evolutionary history of protein phosphatase 1 regulatory subunit 2 and related pseudogenes
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.publishe