Evolution, systematics, and the unnatural history of mitochondrial DNA

Abstract

The tenets underlying the use of mtDNA in phylogenetic and systematic analyses are strict maternal inheritance, clonality, homoplasmy, and difference due to mutation: that is, there are species-specific mtDNA sequences and phylogenetic reconstruction is a matter of comparing these sequences and inferring closeness of relatedness from the degree of sequence similarity. Yet, how mtDNA behavior became so defined is mysterious. Even though early studies of fertilization demonstrated for most animals that not only the head, but the sperm’s tail and mitochondria-bearing midpiece penetrate the egg, the opposite – only the head enters the egg – became fact, and mtDNA conceived as maternally transmitted. When midpiece/tail penetration was realized as true, the conceptions ‘strict maternal inheritance’, etc., and their application to evolutionary endeavors, did not change. Yet there is mounting evidence of paternal mtDNA transmission, paternal and maternal combination, intracellular recombination, and intra- and intercellular heteroplasmy. Clearly, these phenomena impact the systematic and phylogenetic analysis of mtDNA sequences.

Keywords:

• Paternal transmission
• recombination
• heteroplasmy
• evolution
• systematics

Acknowledgements

I thank Rob DeSalle for encouraging this endeavor, Manolis Ladoukakis for insights into paternal transmission and recombination, and Judith Masters, Michael Lotze, and a third reviewer for helpful criticism and comment.

Disclosure statement

No potential conflict of interest was reported by the author(s).