In Search of the Root: Discovery of a Highly Divergent Y Chromosome - PowerPoint PPT Presentation

In Search of the Root: Discovery of a Highly Divergent Y Chromosome Lineage Bonnie Schrack Haplogroup A Project Admin Family Tree DNA 8th International Conference on Genetic Genealogy, 2012 Bonnie Schrack

Have you heard from your project members: “ Am I a Martian? I have no matches!” DNA Project Results Subgroup A Subgroup B No Matches! (Orphans, Lost Tribes) ? ? ? ? ? ??? ??? ? ? ? ? ? ? ? ? ? Bonnie Schrack

“I once was lost, but now am found…” DNA Project Results New Clade 1 New Clade 2 New Clade 3 Subgroup A Subgroup B Bonnie Schrack

The Y-Haplogroup A Project The majority of the members belonged to A1a or A3b2, but those at the top were unclassified. . . Bonnie Schrack

2010 – B efore C ruciani A and BT were two distinct, monophyletic clades Y-Adam father of all of today’s Y -DNA lineages Defined by A SNPs Defined by BT SNPs M91, P97 SRY10831.1, M42 A BT A1 A1a A1b A2 A3 B CT Bonnie Schrack

To which clade did they belong? Not A2 or A3. . . Y-Adam A BT A1 A1a A1b A2 A3 B CT Bonnie Schrack

Not A1a…Could they be A1b? Y-Adam A BT A1 A1a A1b A2 A3 B CT ? Bonnie Schrack

A Revolution in the Root of the Y Tree “A Revised Root for the Human Y Chromosomal Phylogenetic Tree: The Origin of Patrilineal Diversity in Africa” Fulvio Cruciani et al, 2011 Bonnie Schrack

2011 – A fter C ruciani A1b is the earliest branch; BT is now a brother clade to A2 and A3! A is no longer one, distinct monophyletic clade Y-Adam A1a-T A2-T – includes A2, A3, BT A1b A1a A2 A3 BT Bonnie Schrack

Former A-defining SNPs M91 & P97 recognized as defining BT, with “reversed polarity” Likewise, former A1 SNP, P108, recognized as reversed A2-T SNP Y-Adam A1a-T SNPs A2-T SNPs: P108, V221 BT SNPs: now incl. M91, P97 A1b A1a A2 A3 BT Bonnie Schrack

Our project members who aren’t A1a, A2, or A3. . . Time to investigate! Bonnie Schrack

Another great study, with haplotype data! “Signatures of the pre-agricultural peopling processes in sub- Saharan Africa as revealed by the phylogeography of early Y chromosome lineages” Chiara Batini et al, 2011 Map shows f requencies of haplogroups A (yellow), B2a (light blue) and B2b (dark blue) in Africa Bonnie Schrack

One lineage matches with Batini’s A1b samples Also matches with haplotypes from Cameroon in SMGF database, in the same location as the hg. A “Ruling Dynasty of the Nso ′” described by Veeramah, 2008! Bonnie Schrack

We examine the others -- 1 st WTY: Kit #N38376, African-American lineage from Virginia Has matching haplotypes from Ghana in SMGF database Bonnie Schrack

Result: Our First New Branch! Y-Adam A1b new! A1a A2 A3 BT Bonnie Schrack

But what to call it? Old nomenclature no longer make sense to us New proposal: Borrow from mtDNA nomenclature . . . “L0” A0 A1 Bonnie Schrack

2 nd WTY: Kit #N14468, African-American lineage from Maryland 1 FTDNA match, but no matching haplotype in any known database or scientific paper! Bonnie Schrack

Result: Second New Branch! Y-Adam A0 A1 A1a A1b A0a1 A0a2 A0b A1a A1b1 A1b2 BT Bonnie Schrack

Three-way branching under A1b resolved to two forks Y-Adam A0 A1 A1a A1b A1b1 BT L419 P97 A0a1 A0a2 A0b A1a A1b1a A1b1b BT Bonnie Schrack

3 rd WTY: Kit #215865, African-American lineage from So. Carolina Has matching haplotypes from Cameroon in SMGF database Bonnie Schrack

Result: An Unforeseen Discovery -- The Earliest Branch on the Human Y Tree A00 A0 A1 A00 A0a1 A0a2 A0b A1a A1b1a A1b1b BT Bonnie Schrack

Remember, Surname Project Admins! Send your Non-matching Haplotypes to their Haplogroup Project! Bonnie Schrack