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Functional Characterization of a Phf8 Processed Pseudogene in the Mouse Genome.

Joannie St-Germain^1,2, Muhammad Riaz Khan^1,2, Viktoriia Bavykina^1,2

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.

|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.

Keywords:

PHF8 histone demethylase mouse genome pseudogene testis

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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.