.
New
Native American Haplogroups
Roberta
Estes, [email protected],
www.dnaexplain.com
December
20, 2010
Sometimes
scientific breakthroughs result from a combination of newly developed
scientific techniques, synchronicity and opportunity. In other words, being at the right place at the right time,
sprinkled with a little bit of luck.
For
the tens of thousands of Americans today who seek their Native American
ancestors via Y chromosomal DNA testing, that search just got a little
bit easier, thanks to Leonard Trujillo, Thomas Krahn at Family Tree DNA
and Rebekah Canada, the haplogroup Q project administrator.
For
the past decade, since the advent of genetic genealogy, it has been
accepted that subgroups of haplogroup C and Q were indicative of Native
American ancestry. Specifically,
subgroups C3b and Q1a3a, alone, are found among the Native peoples of
North and South America. Other
subgroups of haplogroup C and Q are found elsewhere in the world, not in
North or South American, and conversely, C3b and Q1a3a are not found in
other locations in the world. This
makes it very easy to determine if your direct paternal ancestor was, or
was not, Native American. Or
so it seemed.
And
then, of course, there were the baffling and tantalizing exceptions that
caused me to suspect that there was yet at least one more Native
American Y haplogroup. A
few years ago, in the course of my business, I ran into a gentleman
whose paternal line did not have an oral history of Native heritage, but
his family was associated with a specific isolate group who did indeed
have both a strong native oral heritage combined with documented (paper)
Native ancestry. This
grouping of individuals was found in colonial Virginia and may have been
Saponi descendants. His
haplogroup proved to be Q1. Q1
was not thought to be Native American at that time, but I was very
suspicious, especially since his haplotype, meaning his actual marker
values, matched no European people.
Neither did he match any Native people.
However, at that time, we had no further tools to address this
mystery.
A
few years later, another gentleman tested to be Q1a3, and his ancestor
hailed from the PeeDee River region of South Carolina, an area known to
be heavily populated with Native people historically, many of which
became the Pee Dee and Lumbee today.
However, haplogroup Q1a3 is also known to exist in people of
European ancestry who have never lived stateside and who have absolutely
no ancestry from the Americas. However,
the haplotypes of these two Q1 and Q1a3 gentlemen were very different,
suggesting no recent genealogical link, perhaps not within thousands of
years.
I
desperately wanted to know if perhaps the subgroup Q1a3 held different
SNP markers for a European and a Native American subgroup within Q1a3,
but again, the technology did not yet exist at that time to answer the
question.
In
2009, 23andMe introduced wide spectrum testing, and both the Q1 and Q1a3
American gentlemen underwent testing at 23andMe with the hopes of
isolating new SNPs that would shed light on their ancestry, but that was
not to be. However, the SNPs we could confirm indeed did match each
other, proving that both men were actually Q1a3.
Their SNP values were P36.2+,
MEH2+, M346+, L53+, L54+, L55+, L56+, L57+, L213+ and M3- which confirms
haplogroup Q1a3 by virtue of M346+.
The negative M3 indeed reaffirms that they are not Q1a3a.
However, at that time, the SNPS designated by L were not yet
available, and they turn out to be quite important in this story.
All SNPs designated by L were discovered or confirmed by Thomas
Krahn at Family Tree DNA and have been discovered in the past two years
since the advent of the Walk Through the Y project.
In
early 2009, two things happened at Family Tree DNA that would ultimately
provide the building blocks to solve this mystery.
Thomas Krahn began to offer the "Walk Through the Y"
specialized test designed to be taken by only select individuals within
haplogroups in order to discover additional SNP markers that will
further define the haplogroup subgroups.
To date, over 400 markers have been found in various haplogroups
using this methodology. These
new markers provide tools to further understand both recent and ancient
genealogy and the movement and settlement of the Earth's peoples.
The
second thing that happened in early 2009 is that Family Tree DNA began
offering the Personalized DNA Reports for Y-line (and mitochondrial DNA)
results through their website for clients who have tested at 37 markers
or more.
Recently,
Leonard Trujillo purchased the Y-line Personalized DNA Report.
Leonard had tested at 67 markers and had also purchased the Deep
Clade test, which reported his haplogroup results as Q1a3, but not Q1a3a
(M3-). Leonard's question
to me that he wanted to be answered in the Personalized DNA Report was
whether or not his paternal line was indeed genetically Native.
Unfortunately, I could not, at that time, give him a definitive
answer. However, that was
all about to change.
Leonard's
situation is a little different from the earlier two. Leonard has a compelling family history that includes not
just an oral history of Native ancestry on his paternal side, but the
actual marriage record of his ancestor, Juan Estevan Trujillo
(1739-1816) found in the Mission books of the Church of Santo Thomas de
Abuquiu, NM (Marriages 1756-1826), that states: "Juan Estevan
Trujillo, Indian of this pueblo, marriage to Juliana Martin, coyota and
resident". The term
coyota (the feminine form) is a term specific to New Mexico and
indicated a person of mixed ancestry.
The term is no longer in use.
Juan Trujillo was called an Indian, not coyote (the masculine
form), so he was not admixed.
Further
investigation shows that Juan Estevan Trujillo was probably a Genizaros[i],
a detribalized Plains Indian who was likely captured as a child by the
Pueblo tribes and sold into slavery to either the Spanish or at the
Pueblos. These Indian
children were given Spanish names, taught to speak Spanish and were
raised at Catholics. They
often thought of themselves as Spanish, but they were indeed Indians,
but without a tribe which equates in Native society to a cultureless
soul. Many of these
displaced individuals joined together and formed the Pueblo de Abiquiu[ii]
in the 1750s, which is indeed where Juan Estevan Trujillo was married.
Leonard
Trujillo's story was indeed compelling.
Of the three individuals who were not Q1a3a (M3-), but looked to
potentially be Native American, his genealogical history clearly stated
that his ancestor was Native. But
how do we scientifically prove this?
Leonard
agreed to order the Walk Through the Y test with the hopes of
discovering new SNPs that would identify him as an individual of Native
ancestry within haplogroup Q1a3. At
about the same time, and unbeknownst to us, a French haplogroup Q1a3
gentleman from Rebekah Canada's haplogroup Q project also ordered the
Walk Through the Y test.
Testing
only Leonard wasn't enough. His
results, if any new SNPs were found, would need to be compared to a Q1a3
individual from Europe. Our
firm hope was that there would be at least one differentiating SNP
between the European sample and Leonard's sample which could then be
used to separate European Q1a3 from Native Q1a3, assuming they were
indeed separate haplogroup subgroups.
Indeed,
Leonard's investment in science paid off, and he is the first person in
the world to be proven as a member of the new haplogroup Q1a3a4 with two
new SNPs discovered, L400 and L401.
Furthermore, the European gentleman hit the bonanza as well, with
6 new SNPs discovered, L329-L334. Only
one of these was also carried by Leonard, L331, meaning that between
them, there are now 7 SNPs that differentiate European from Native Q1a3.
Their common SNP lowest on the tree is L213, which both of them
carry and is now a designator of the new subgroup Q1a3a.
If
you're following closely at this point, you'll be wondering how Leonard
and the French gentleman suddenly came to be included in haplogroup
Q1a3a, when it was previously a Native American ONLY subgroup.
Well,
our haplotree sprouted a new branch and the existing haplogroup branches
are in the process of being shifted on the tree and renamed. So the branch previously known as Q1a3 is now Q1a3a.
Confusing, yes, but also very necessary as science pushes forward
with new discoveries.
Below
is a chart with the new SNP discoveries and how those discoveries have
shifted the haplotree relative to Native American ancestry. You can see that an entirely new group of SNPs has been
discovered, and they now indicate haplogroup Q1a3a. This group includes the SNP, L213, common to both European
and Native American groups. However,
the next group, which includes M3 and three new "pages" SNPs
now is the designation for subgroup Q1a3a1 which used to be Q1a3a.
Q1a3a1 is now a Native American only haplogroup and Q1a3a now
includes both Native and European members.
The newly discovered haplogroup, Q1a3a4, designated by L400 and
L401 is shown last on the list and is the new Native American haplogroup
discovered thanks to Leonard Trujillo.
SNPs (new in parenthesis)
|
Old Haplogroup[iii]
|
New Haplogroup
|
M242
|
Q
|
No
change
|
P36.2
(L232, L273, L274)
|
Q1
|
No
change
|
MEH2
|
Q1a
|
No
change
|
M120,
N14 aka (M265)
|
Q1a1
|
No
change
|
M143,
M25
|
Q1a2
|
No
change
|
M346
(L56, L57)
|
Q1a3
|
No
change
|
L53, L54, L55, L213, L331
|
Did not exist
|
Q1a3a
|
M3 (Pages00104, Pages00126, Pages00131)
|
Q1a3a
|
Q1a3a1
|
M19
|
Q1a3a1
|
Q1a3a1a
|
M194
|
Q1a3a2
|
Q1a3a1b
|
M199,
P106, P292
|
Q1a3a3
|
Q1a3a1c
|
L191[iv]
|
Did
not exist
|
Q1a3a2
|
L330,
L334
|
Did
not exist
|
Q1a3a3
|
L329,
L332, L333 (French gentleman)
|
Did
not exist
|
Q1a3a3a
|
L400, L401 (Leonard Trujillo)
|
Did not exist
|
Q1a3a4
|
Testing
of the old SNPs above was accomplished at various times and utilizing
differing tests including the Backbone test, Deep Clade, individual
SNPs, 23andMe and the Walk Through the Y.
The new SNPs have been recently discovered and not everyone has
been tested for these SNPS. Many
are not yet commercially available and are used only in a research
setting.
Below
is a chart with the known haplogroups, individuals involved in this
testing, their old and their new haplogroup designations.
SNPs
|
Traditional
Native American
|
Gentleman
1 - Poss Saponi
|
Gentleman
2 - Poss PeeDee
|
Leonard
Trujillo
|
European
from France
|
M242
|
X
(yes)
|
X
|
X
|
X
|
X
|
MEH2
|
X
|
X
|
X
|
X
|
X
|
L213
|
Unknown
|
X
|
X
|
X
|
X
|
M3
|
Yes
|
No
|
No
|
No
|
No
|
L400,
L401
|
Unknown
|
Unknown
|
Unknown
|
X
|
No
|
L329-L334
|
Unknown
|
Unknown
|
Unknown
|
No
|
X
|
Old
Haplogroup
|
Q1a3a
|
Q1
then Q1a3
|
Q1a3
|
Q1a3
|
Q1a3
|
New
Haplogroup
|
Q1a3a1
|
Q1a3a
|
Q1a3a
|
Q1a3a4
|
Q1a3a3a
|
Of
course, this begs the question of whether Gentlemen 1 and 2 also carry
SNPs L400 and L401. Yes, we
are in the process of testing them as well as others who fall in the
Traditional Native American haplogroup, formerly Q1a3a, now Q1a3a1.
The
story is not yet over for haplogroup Q.
Additional branches may be found on the Q haplotree, both for
Native Americans and Europeans. This
means that the haplogroups listed today may indeed change in the future
as a result of new discoveries.
The
current draft tree for haplogroup Q, compliments of Thomas Krahn and
Rebekah Canada, is shown below, with the two Native American haplogroups,
Q1a3a1 and Q1a3a4 and their associated SNPs underscored and shown in
red. Reordering of the haplogroup Q tree also provides us with 3
additional Native subgroups, Q1a3a1a, Q1a3a1b and Q1a3a1c, shown in
their new location on the haplogroup Q tree.
Q1a3a2 is red, but not underscored as it is suspected but not yet
confirmed as Native.
These
discoveries to date, especially the discovery of the new Native American
haplogroup, long suspected but never before proven, are thanks to
pioneers Leonard Trujillo and Thomas Krahn, both of who were willing to
tread ground previously unbroken. Without
the unfailing support of Bennett Greenspan at Family Tree DNA, none of
these discoveries would have been made.
Family Tree DNA has subsidized the Walk Through the Y Project
heavily by supporting this non-profit-making testing in the name of
research. Funding for
various tests has come from the various participants, but also from
Rebekah Canada, myself and other donors.
To
keep up with this project, watch Rebekah Canada's haplogroup Q project,
Dr. Ana Oquendo Pabon's Q-AmerIndian project, Randy Garcia's Southwest
US and Mexico Native project, the draft Y tree at Family Tree DNA and
the Y haplotree at ISOGG. Links
for references are provided below.
http://www.familytreedna.com/public/yDNA_Q/default.aspx
http://www.familytreedna.com/public/MexicoAmerindian/default.aspx
http://www.familytreedna.com/public/Amerind%20Y/default.aspx
http://ytree.ftdna.com/index.php?name=Draft&parent=31182976
http://www.isogg.org/tree/ISOGG_HapgrpQ.html
http://en.wikipedia.org/wiki/Haplogroup_Q_(Y-DNA)
http://www.dnaexplain.com/Publications/Publications.asp
[iii]
The old haplogroup Q tree is discussed in and derived from several
academic publications, including the references listed below:
High
Resolution SNPs and Microsatellite Haplotypes Point to a Single,
Recent Entry of Native American Y Chromosomes into the
Americas,2004, Zergua et all, Molecular Biology Evolution
The
Peopling of the New World, 2004, Theodore G. Schurr, Annual Review
of Anthropology
Mitochondrial
DNA and Y Chromosome Diversity and the Peopling of the Americas:
Evolutionary and Demographic Evidence, Schurr and Sherry, American
Journal of Human Biology
Y-Chromosome
Evidence for Differing Ancient Demographic Histories in the
Americans, Bortolini et al, 2003, American Journal of Human Genetics
Peopling
of the Americas: A Second Major Migration, 2002, Tarazona-Santos and
Santos, American Journal of Human Genetics
The
Dual Origin and Siberian Affinities of Native American Y
Chromosomes, 2002, Lell et al, American Journal of Human Genetics
Y-Chromosome
Evidence for Differing ancient Demographic Histories in the
Americas, 2003, Bortolini, American Journal of Human Genetics
[iv]
L191 may also be another indicator of a Native American haplogroup.
It currently appears in one individual with a paternal
history in Mexico. Research
is ongoing.
New
Mexico Office of the State Historian - http://www.newmexicohistory.org/filedetails.php?fileID=4836
[1]
New Mexico Office of the State Historian - http://www.newmexicohistory.org/filedetails.php?fileID=507
[1]
The old haplogroup Q tree is discussed in and derived from several
academic publications, including the references listed below:
High
Resolution SNPs and Microsatellite Haplotypes Point to a Single, Recent
Entry of Native American Y Chromosomes into the Americas,2004, Zergua et
all, Molecular Biology Evolution
The
Peopling of the New World, 2004, Theodore G. Schurr, Annual Review of
Anthropology
Mitochondrial
DNA and Y Chromosome Diversity and the Peopling of the Americas:
Evolutionary and Demographic Evidence, Schurr and Sherry, American
Journal of Human Biology
Y-Chromosome
Evidence for Differing Ancient Demographic Histories in the Americans,
Bortolini et al, 2003, American Journal of Human Genetics
Peopling
of the Americas: A Second Major Migration, 2002, Tarazona-Santos and
Santos, American Journal of Human Genetics
The
Dual Origin and Siberian Affinities of Native American Y Chromosomes,
2002, Lell et al, American Journal of Human Genetics
Y-Chromosome
Evidence for Differing ancient Demographic Histories in the Americas,
2003, Bortolini, American Journal of Human Genetics
[1]
L191 may also be another indicator of a Native American haplogroup.
It currently appears in one individual with a paternal history in
Mexico. Research is
ongoing.
|