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Functional Characterization of a Phf8 Processed Pseudogene in the Mouse Genome.
Joannie St-Germain1,2, Muhammad Riaz Khan1,2, Viktoriia Bavykina1,2
1Research Center on Aging, Centre Intégré Universitaire de Santé et Services Sociaux de l'Estrie-Centre Hospitalier Universitaire de Sherbrooke, Sherbrooke, QC J1H 4C4, Canada.
Genes
|January 21, 2023
Summary
A novel mouse pseudogene, Pfh8-ps, produces a functional PHF8-PS protein in the cytoplasm. This protein lacks H3K9me2 demethylase activity but interacts with mitochondrial and cytosolic proteins, suggesting new roles distinct from its parent gene.
Area of Science:
- Genomics
- Molecular Biology
- Epigenetics
Background:
- Pseudogenes are typically non-functional gene copies arising from retrotransposition.
- They accumulate mutations, rendering them silent and imperfect copies of parental genes.
- The functional potential of pseudogenes remains largely unexplored.
Purpose of the Study:
- To investigate the functional potential of a novel mouse retrotransposed pseudogene, Pfh8-ps.
- To characterize the PHF8-PS protein derived from this pseudogene.
- To determine the molecular function and interactions of PHF8-PS.
Main Methods:
- Identification and sequencing of the Pfh8-ps pseudogene in the mouse genome.
- Analysis of Pfh8-ps transcription in various tissues, particularly testis.
- In vitro characterization of PHF8-PS protein's enzymatic activity (JmjC domain).
- Subcellular localization studies of PHF8-PS.
- Proteomic analysis to identify PHF8-PS interacting partners.
Main Results:
- Pfh8-ps lacks coding sequence disruptions and is transcribed in mouse testis.
- The resulting PHF8-PS protein is produced in vivo and possesses a conserved JmjC domain.
- PHF8-PS exhibits no H3K9me2 demethylase activity in vitro, unlike PHF8.
- PHF8-PS localizes to the cytoplasm, not the nucleus.
- Proteomic analysis revealed interactions with mitochondrial proteins and prefoldin subunits.
Conclusions:
- Pfh8-ps represents a functional pseudogene capable of producing a distinct protein.
- PHF8-PS protein has diverged functions from PHF8, lacking demethylase activity and localizing to the cytoplasm.
- PHF8-PS interacts with proteins involved in protein folding and mitochondrial function, suggesting novel cellular roles.
