PRKN Gene Introns in Families From Order Primates Show Common Open Reading Frames

The Parkin RBR E3 Ubiquitin Protein Ligase gene, the second largest gene within the human genome, plays a crucial role in physiological processes and is implicated in neurodegenerative pathologies, notably Parkinson's disease. The average size of this gene is approximately 1,300,000 base pairs (bp), while one of its messengers RNA (mRNAs) measures only 4,178 bp. Large Introns suggest the presence of transcriptional elements and Exons that exhibit interspecies variations, similar to the Dystrophin gene. In silico analysis of the Introns within the PRKN gene across 16 primate species revealed a largely conserved organization, a finding further substantiated by their phase patterns. Within these Introns, 420 open reading frames (ORFs) were identified, encompassing 1,454 Exons in the sense direction ranging between 1 to 12. These species-shared ORFs encode for domains primarily associated with phosphorylation and myristoylation, among others. The phylogeny of PRKN corresponds with other ones previously reported, correlating with bioinformatic analyses. The structures, characterized for the first time for the PRKN Introns, may be implicated in cellular functions that have not been yet experimentally determined. Furthermore, these structures may be associated with diseases arising from their mutational patterns. This approach provides a valuable contribution to the design of experimental validations.