Family Tree DNA is staying on top of the latest advancements in genetic genealogy, adding a new way of reporting our mitochondrial DNA.
In April of this year a paper by Doron Behar (et al) was published proposing a new method of reporting mtDNA. This method uses mutations referenced to a Reconstructed Sapiens Reference Sequence (RSRS) instead of the traditional revised Cambridge Reference Sequence (rCRS). In the author's own words:
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.
In line with this proposal, FTDNA has added the new RSRS values in a tab next to the rCRS values that we are used to seeing. Here is what it looks like in my account:
|rCRS Values (old mutation list)|
|RSRS Values (new mutation list)|
This new method is an improvement over the old method (based on the 1981 sequence which is now being classified as belonging to the haplogroup H2a2a1), in part, because it uses the root of the tree as the base from which to count mutations rather than the differences from the random sample that has been used in the past. More from the authors:
Mutational events along the human mitochondrial DNA (mtDNA) phylogeny are traditionally identified relative to the revised Cambridge Reference Sequence (rCRS), a contemporary European sequence published in 1981. This historical choice is a continuous source of inconsistencies, misinterpretations and errors in medical, forensic and population genetic studies. Here, after having refined the human mtDNA phylogeny to an unprecedented level by adding information from 8,216 modern mitogenomes, we propose switching the reference to a Reconstructed Sapiens Reference Sequence (RSRS), which was identified by considering all available mitogenomes from Homo neanderthalensis.
|mtDNA Phylogeny - found under "Resources" tab|
mtDNACommunity.org is brought to you as a free public service, aiming to facilitate the further understanding of the human mtDNA phylogeny.
|New mtDNA Community Website|
Its stated goal is:
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.
It appears that Dr. Behar will be actively involved in the site:
There are two new tools to help us ease into the transition:
To facilitate data transition from an rCRS to an RSRS based nomenclature we release 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.
On FTDNA's website, I am still listed as haplogroup U5b1, but on mtDNA Community, my full U5b1b2 Haplogroup is reported. That is the same haplogroup reported by 23andMe for me and my matrilineal relatives, so it is nice to see it confirmed here.
|More detailed haplogroup|
**Update - Ann Turner shared the following information in a comment below. I thought it was important enough to add it to the body of this post:
mtDNACommunity is indeed restricted to full mitochondrial sequences. I agree that upgrading would not be informative in terms of finding matches, but you would learn a more detailed haplogroup assignment if that is of interest to you.
All who have tested at 23andMe: you can learn your differences from the RSRS by going to Ancestry Labs / Haplogroup Tree Mutation Mapper. 23andMe doesn't test every position, but all the positions listed will be differences from "mtEve." I did a quick check, and it looks like 73 and 16311 would be the only positions missing along the route between the RSRS and the CRS. Thanks Ann!
And Bill Hurst (the same William R above) posted on the ISOGG list this new info: FTDNA has listed your "NCBI Number" or GenBank accession number beside your haplogroup designation on your personal page. For me it wasn't there because I submitted to GenBank through Ian Logan, but for anyone who submitted through FTDNA, you should be able to see it. Thanks, Bill!
This is as new to me as it is to the rest of you, so we will learn together as we go. Rebekah Canada has kindly posting an extremely informative "tutorial" on the ISOGG Facebook page, so follow along to learn more.**