Mitochondrial DNA in the Nuclear Genome: An Analysis of Numt Insertions during Primate Evolution
Bayer School of Natural and Environmental Sciences
Brady A. Porter
David J. Lampe
evolution, genome, insertion, mitochondria, nuclear DNA
Fragments of mitochondrial DNA (mtDNA) have inserted into their respective nuclear genomes multiple times ('numts', or nuclear mtDNA segments). Current studies lack a comparison to closely related species, and have been largely performed using the human genome alone, or several distantly related species. Here, a unique list of numts within the human genome was generated and used to characterize the numt distribution over the primate lineage, found to be significantly different than expected.
Two numts included complete mitochondrial gene sequences: ATPase8 and the lysine tRNA in one, and the phenylalanine tRNA in the other. To test the hypothesis that numts behave like 'fossils' due to the difference in mutation rate between the mitochondria and nucleus, these sequences were used to predict ancestral mtDNA sequences and compared to reconstructions using mtDNA itself. The results suggest that numts are less efficient at preserving mtDNA ancestral state than mtDNA itself.
Wildschutte, J. (2006). Mitochondrial DNA in the Nuclear Genome: An Analysis of Numt Insertions during Primate Evolution (Master's thesis, Duquesne University). Retrieved from https://dsc.duq.edu/etd/1629