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

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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


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Bonnie Schrack

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

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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)

? ? ? ? ? ??? ??? ? ? ? ? ? ? ? ? ?

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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

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Bonnie Schrack

The Y-Haplogroup A Project

The majority of the members belonged to A1a or A3b2, but those at the top were unclassified. . .

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Bonnie Schrack

2010 – Before Cruciani

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

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Bonnie Schrack

To which clade did they belong? Not A2 or A3. . .

Y-Adam

A BT

A1

A1a A1b A2 A3 B CT

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Bonnie Schrack

Not A1a…Could they be A1b?

Y-Adam

A BT

A1

A1a A1b A2 A3 B CT

?

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SLIDE 8

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

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Bonnie Schrack

2011 – After Cruciani

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

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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

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Bonnie Schrack

Our project members who aren’t A1a, A2, or A3. . .

Time to investigate!

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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 frequencies of haplogroups

A (yellow), B2a (light blue) and B2b (dark blue) in Africa

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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!

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Bonnie Schrack

We examine the others -- 1st WTY: Kit #N38376, African-American lineage from Virginia

Has matching haplotypes from Ghana in SMGF database

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Bonnie Schrack

Result: Our First New Branch!

Y-Adam

A1b new! A1a A2 A3 BT

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Bonnie Schrack

But what to call it?

Old nomenclature no longer make sense to us New proposal: Borrow from mtDNA nomenclature . . . “L0”

A0 A1

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Bonnie Schrack

2nd WTY: Kit #N14468, African-American lineage from Maryland

1 FTDNA match, but no matching haplotype in any known database or scientific paper!

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Bonnie Schrack

Result: Second New Branch!

Y-Adam

A0 A1

A1a A1b

A0a1 A0a2 A0b A1a A1b1 A1b2 BT

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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

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Bonnie Schrack

3rd WTY: Kit #215865, African-American lineage from So. Carolina

Has matching haplotypes from Cameroon in SMGF database

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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

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Bonnie Schrack

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