Speaking Notes for FTDNA Conference Presentation, “In Search of the Root: Discovery of a Highly Divergent Y Chromosome Lineage,” Slides 1-22, Nov. 10, 2012, BonnieSchrack
- Good morning! I‘m so happy to be able to finally share the story of the exciting discoveries we‘ve made in our study of the earliest branches of the Y chromosome tree.
- All the project administrators out there have probably had the experience of having a few project members who don’t fit into your main groups, who have no matches. They’re usually not very happy about it! But for a haplogroup project, these same samples can be gold.
- These rare haplotypes are just what we need to explore and clarify the phylogenetic tree. With SNP testing, we can identify new clades, new branches on the tree, and they can become the heroes!
- The A Project’s Purposes were twofold: First, to provide information on ancestral origins for African-American participants,
- And second, to determine whether the new arrangement of the Haplogroup A phylogenetic tree proposed by Cruciani (2011) could be confirmed, corrected, clarified, or extended. Here’s how the root of the tree was thought to look before his paper.
- We had, in addition to members of the known branches of A, a number of members whose Y-DNA could not yet be classified in the known branches. It was clear they didn’t belong to A2 or A3…
- Also, they weren’t members of A1a, but A1b was an unknown. We wanted to look into that possibility.
- Cruciani’s paper revolutionized the concept of Haplogroup A. . .
- Instead of a monophyletic branch from the trunk of the Y-DNA phylotree, the branches of A are a collection of clades descending directly from the root of the Y tree, and the remaining Y-haplogroups are descended from one of the downstream branches of A.
- He discovered that the SNPs previously used to define the A haplogroup did indeed separate it from the other clades, but they were actually located downstream of A. Haplogroup A was a label we could give to any sample that didn’t belong to any of the haplogroups descending from BT!
- We wanted to see whether SNP testing of our unclassified project members could shed new light on the beginnings of the Y-haplogroup tree, as well as the participants’ origins.
- Another excellent paper came out that year which gave us haplotypes for many of the known branches of A, including A1b.
- One of our African-American project members’ lineage from Georgia, matched the haplotypes Batini found in A1b. So his haplotype gave us a benchmark to compare the others to.
- We did some testing of individual SNPs and found that these unclassified project members were upstream of Cruciani’s A1a-T, but not within his A1b. It was clear we needed to proceed with Walk Through the Y testing! One of our more active project members was the one we chose to start with.
- More than 40 new SNPs were found in our first WTY, setting a new record. It also shared 19 of the 32 SNPs discovered by Cruciani in his A1b sample.
- Our findings suggested that the two branches at the earliest level of the tree be given the names A0 and A1, with A1 designating those branches that are upstream of BT, and A0, the newly discovered branches that are not.
- Let me just mention that what allowed us to do so many WTYs was the fantastic support of a number of enthusiastic supporters of our research, whose increasing excitement led them to be extremely generous with donations. Early in the project HammaBachir Ahmed got us off the ground, and our greatest supporter has been Stan Pietrzak from Poland.
Our second WTY was of another African-American lineage, from Maryland… - In his sample, we found ~24 new SNPs. He shared 18 of the same Cruciani SNPs, 19 of the SNPs found in the previous WTY, and 22 new SNPs defining his own branch.
- In later research, Thomas was also able to clarify a number of A branches we don’t have time to go into now, but here is one example. . .
- For the third WTY we took the most divergent haplotype we had, and by that time, many people were really excited about what we might find, especially when our preliminary SNP testing found that we was negative for all the SNPs we tested in him, which had been positive in our previous WTYs! But we didn’t know HOW exciting the results would be. . . We did see that it was time to bring Mike Hammer on board to collaborate on our research.
- We found over 50 SNPs that were derived only in this sample, and also, about 30 SNPs that are ancestral in this sample, and derived in all other human Y lineages!
Please note: the lengths of the branches on this diagram are NOT TO SCALE. - I’ll now turn you over to Thomas and Michael for the rest of the story, but remember project admins, send your “strange” haplotypes to their haplogroup project, where they’ll be helping to advance our knowledge of the human family tree.