๐งฌA new preprint from the FamilyTreeDNA team presents what is probably the largest human mitochondrial phylogeny built so far: Mitotree.
It is based on about 330,000 complete mitochondrial sequences and contains 53,588 haplogroups โ almost 10 times more than PhyloTree v17, the old reference tree that has not been updated for many years.
One detail I found especially interesting: of those ~330,000 sequences, about 177,000 were unique haplotypes. That does not fit very well with the common stereotype that mtDNA is โless interestingโ for genealogy and population history than the Y chromosome simply because it accumulates fewer mutations per generation. At this scale, mtDNA still turns out to carry an enormous amount of phylogenetic structure.
The tree has not only grown โ it has also become much โyounger.โ The median age of terminal subclades moved much closer to the present: from 1262 BCE in PhyloTree to 741 CE in Mitotree.
The paper is full of historically interesting examples.
One of the most elegant stories is about รtzi, the famous โIcemanโ from the Alps. His maternal lineage K1f long looked almost like a dead end. In Mitotree, however, it gains relatives. The authors report an exact K1f match in a modern individual with Algerian Shawiya Berber maternal ancestry, as well as ancient related branches in Europe. So รtziโs maternal line is no longer just a lonely Alpine oddity, but part of a broader lineage with deeper roots in southeastern Europe.
There are much deeper discoveries too. The authors describe around 180 newly identified branches older than 30,000 years. One of the most striking is a split within the African lineage L2e dated to about 83,000 years ago. It is a reminder that ancient African population history was not a simple single line, but a deep and complex landscape of old divergences, migrations, and bottlenecks.
I was also glad to see that the authors examined mtDNA structure in different Jewish subpopulations. It was especially nice to see that their results for Mountain Jews and Georgian Jews match what we have found in our own research on these groups.
One thing I would have liked to see is a more detailed comparison between FamilyTreeDNAโs Mitotree and YFullโs actively developed MTree. The authors mention it only briefly, but a systematic comparison of the two resources would be very interesting.
biorxiv.org/content/10.64898โฆ
#MitoTree #mtDNA #phylogeny #haplogroups #PopulationGenetics