Our Goals

This website is committed to the support of the "Copernican" reassessment of the human mtDNA phylogeny and to the establishment of computational tools meant to facilitate phylogenetic analysis and comparison of complete mtDNA sequences.

The "Copernican" reassessment of the human mtDNA

The human mitochondrial DNA (mtDNA) phylogeny is an almost perfect molecular prototype for a non-recombining locus, and knowledge of its variation has been and is extensively used in medical, genealogical, forensic and population genetic studies. While its early synthesis was based on restriction-fragment length polymorphisms, control-region variation or a combination of both, the human mtDNA phylogeny is now reconstructed from complete mtDNA sequences, thus stretching the phylogenetic resolution to its maximum. Despite these major advances, the extinct complete human mtDNA root sequence was never precisely determined and mtDNA nomenclature remains cumbersome as it refers to the first completely sequenced mtDNA, labelled rCRS, which is now known to belong to the recently coalescing, European haplogroup H2a2a1. In this study, we propose a “Copernican” reassessment of the human mtDNA phylogeny by switching to a Reconstructed Sapiens Reference Sequence (RSRS) as the phylogenetically valid reference point. We aim to trigger the radical but necessary change in the way mtDNA mutations are reported relative to their ancestral/derived status, thus establishing an intellectual cohesiveness with the current consensus of shared common ancestry of all contemporary human mitochondrial genomes.

Computational tools

mtDNACommunity.org is brought to you as a free public service, aiming to facilitate the further understanding of the human mtDNA phylogeny. To facilitate data transition from an rCRS to an RSRS based nomenclature, we have released the tool "FASTmtDNA". Additionally, the tool "mtDNAble" automatically labels haplogroups, performs a phylogeny based quality check and identifies private substitutions. These noted features are fully supported in this website or as standalone versions, which can be freely downloaded from the website including their manual and example files. The web interface allows the benefit of comparing private substitutions between submitted and previously stored mitogenomes to suggest the labeling of additional haplogroups. Following quality check and consent, the web interface enables the storing of complete mtDNA sequences by members of the mtDNA community to enrich a growing database. This in turn is expected to strengthen the dataset used by the website to label haplogroups, perform quality control and refine the phylogeny. While there are currently thousands of complete mtDNA sequences available from scientific studies and private individuals, both tools are designed to handle tens of thousands of additional complete mtDNA sequences that are expected to be generated over the next few years. Additional tools will be periodically added and updated.