Category Archives: DNAeXplained

Just Sayin’:Some M Subclades are NOT New Native American Mitochondrial Haplogroups Either

Update on 1/12/2015: I am again responding to a new blog post written by Robert Estes on 1/5/2015. Her post Anzick Matching Update is her admission that she used an old Gedmatch kit number for her Clovis Anzick research protocol. In this post, she again reiterates her methodology as well as her justification for including the M haplogroup on her list all the while ignoring the facts. The facts are below. She has also failed to answer any of my questions so I have also listed them below.

1) It is unwise to compare mtDNA haplogroup assignments to autosomal DNA. The main reason is that we are talking about two different types of DNA. Extrapolating mtDNA  info from living people who have multiple ethnic admixtures and then comparing to an ancient Native American sample is seriously flawed. One can, in fact, match an ancient  Native American, like Clovis, and have a non-Native American DNA. Roberta somehow conveniently misses the fact that on the F999919 Clovis Gedmatch One-To-Many list, there were a lot of people who matched Clovis who did not have a Native American haplogroup. Why did she not include these matches on her New Native American Haplogroup list? Was it because they are well-known non-Native American haplogroups? Is her continued inclusion of the some of M haplogroup subclades her attempt to discover something new? Why does she assume that just because someone matches a Native American autosomally that this means that they automatically have a Native American mtDNA?

2) The 2007 article she references has been brought into question by several known genetic genealogists, who are also experts in mtDNA analysis,  like Ann Turner, Ugo Pereto, James Lick, Claudio Bravi and others. The M sample was not fully sequenced and was more likely to be an X haplogroup upon further analysis. I may not be an expert in genetic genealogy, but I certainly reached out to some of the best before I even wrote my posts. How come Roberta has not commented on their responses  which I have reported in my blog posts?

3) Her continued inclusion of M subclade  haplogroups on her Native American Haplogroup list, all the while maintaining that M has not been proven to be Native American, is very misleading and disingenuous because it gives people the false impression that they are Native American haplogroups. Lay readers will just look at the headline and make that assumption without reading the small print. Why is Roberta ignoring the fact that her posts are misleading? Is it really enough to justify the inclusion of M haplogroup, without a shred of evidence, just because she can? Should one even publish “research notes” that are not based on current data/facts?

These are questions my inquiring mind would like to know. However, Roberta has failed to answer  any of my legitimate questions for months so I don’t see her changing her modus operandi today. This is what has led me to write my posts in the first place.

Roberta Estes, 1/5/2015
Roberta Estes, 1/5/2015

 

 

Update on 12/24/2014: I felt the need to share this with my readers. I was just made aware of the fact that Roberta Estes admitted today that she ran her initial results using one of the older Clovis Anzick Gedmatch kits numbers. As a result, the methodology she used calls into question her whole research protocol. I am taking her admission below that what I wrote in this blog post is correct.

Roberta Estes admission that she did not use the correct Clovis Gedmatch number for her 12/7/14 blog update
Roberta Estes admission that she did not use the correct Clovis Gedmatch number for her 12/7/14 blog update

 

A continuation of my previous blog post…

I did not address the other M subclades that were mentioned in Roberta Estes “New Native American Mitochondrial Haplogroup” list in my last blog post because it focused specifically on M23. This blog post, however, seeks to do just that because I really don’t want the public to be misled into thinking that these other M subclades are, in fact, Native American as well. Given the stature that Roberta Estes has in the genetic genealogy community, I would really like to see her to remove these M subclades from her working hypothesis. The facts just don’t add up to them being Native American at all.

From Roberta Estes "Native American Mitochondrial Haplogroup" blog post  on Sept. 18th, 2014 and updated 12/7/2014
From Roberta Estes “Native American Mitochondrial Haplogroup” blog post on Sept. 18th, 2014 and updated 12/7/2014

I tried to replicate how Roberta Estes did her research to come up with her inclusion of the M haplogroup subclades in her hypothesis. I went back and looked at all the Clovis matches to see what M haplogroup subclades showed up and if they matched the ones Roberta mentioned on her blog (M1a, M1a1e, M1b1, M23, M3, M30c, M51, M5b3e, M7b1’2, M9a3a/M9a1ac1a). In order to accomplish this, I repeated the steps Roberta used to make her hypothesis. This meant bringing up the One-to-Many matches of the last known Gedmatch kit number we have for Clovis Anzick (F999919) and looking at the mtDNAs of the Clovis matches. When I reduced the cM level to 1 cM, I was able to pull up 1500 matches. However, only one had a M subclade of M7b1’2. I did not find any indication of any of the others she mentioned.

M7b12
Clovis Anzick M7b1’2 mtDNA Match

I can only assume that Roberta used a previous version of the Clovis DNA profile. I know there were several as I matched the first Clovis DNA profile on Gedmatch, sharing 20 cMs with 7 cM as the largest segment, but did not match later Clovis DNA profiles. If this is in fact the case, than I believe Roberta should have taken this new Clovis match info into account when she updated her list on 12/7/2014.

As I mentioned in my previous post, the macro-haplogroup M covers a wide geographical area.

M map
M Haplogroup Geographical Distribution

I looked up the geographical locations of each M subclade Roberta mentioned and found that they were not Native American or were out of the timeframe to be relevant for any comparison to Clovis Anzick. For example, M9a1a1c1a (formerly M9a3a), though geographical close– if you consider Siberia– to being Native American is dated by Behar to be 4221.4 years +/- 3456 old and therefore is nowhere near the 13,000-15,000 age range of Clovis.

The M subclades Roberta mentioned on her blog cover the following geographical areas:

M1a, M1a1e, M1b1 -North Africa, East African, and the Middle East
M23 – Only Madagascar
M3- Southeast Asia
M30c- South Asia
M51- Indonesia, Cambodia, Vietnam, Nepal, and Laos
M5b3e- I could not locate this subclade so it may be an error
M7b1’2- East Asia
M9a3a ( now known as M9a1a1c1a)- Japan, Siberia, Tibet, China, and Mongolia.

The M Haplgroup and Native Americans

I received some great feedback on my last blog post. One was from Ian Logan, another mtDNA expert,  who likewise confirmed the Malagasy origins of the M23 haplogroup. Perhaps, one of the most telling comments that I received came from Dr. Ann Turner, a well-known genetic genealogy pioneer and mtDNA expert herself. I had included, in my blog post, the 2007 article titled “Mitochondrial Haplogroup M Discovered in Prehistoric Native Americans” by Ripan Malhi, et. al. This article is the one that Roberta cites in order to include M subclades as Native American in her hypothesis. Dr. Turner made the following comments:

Dr. Ann Turner's comments
Dr. Ann Turner’s comments

Dr. Ann Turner also consulted with Dr. Ugo Perego, another expert on Native American mtDNA, about the results of the 2007 M sample. Dr. Perego stated:

“Unfortunately, we might never know the true answer [because the remains have been reburied], but I am with you in thinking that it was probably a false positive for M and most likely an X, which would have been still quite interesting as ancient X’s are not that common.”

Both Dr. Turner and Dr. Perego believe that the M sample the article was based on most likely tested false positive for M when it was probably an X sample. Again, the M sample was never fully sequenced as Roberta herself acknowledges.

In conclusion, I have no idea how Roberta came up with her “New Native American Mitochondrial Haplogroups” list. Several people have asked her for an explanation of her methodology to no avail. I could not duplicate Roberta’s methodology as much as I tried. Because of this and the fact that the M sample she refers to was probably an X, I would like to see her remove the M subclades from her list of “New Native American Mitochondrial Haplogroups.”  The evidence is simply not there to make that claim that they are “Native American Mitochondrial Haplogroups.”

We need to remember that individuals today have complex, multiple ancestries that may not be reflected in their mtDNA. I am one such person. I consider myself culturally African-American and Puerto Rican and my ethnic admixture is tri-racial (46% Sub-Saharan African, 46% European, and 8% Native American). But, when you look at my H1ag1 mtDNA, it is European. I am a perfect example of why it is so difficult to make vast, overarching conclusions about my mtDNA without knowing all the colors of my autosomal rainbow…The same holds true for all the other Clovis Anzick matches—who also had non-Native American haplgroups like E, L, H, T, U, J and K,—who did not make her list either.

Dr. Doug MacDonald's Chromosomal Painting of Teresa Vega
Dr. Doug MacDonald’s Chromosomal Painting of Teresa Vega

 

Listening to Our Ancestors This Time: M23 is NOT a Native American Mitochrondrial Haplogroup

 

[Update: On March 2, 2017, Roberta Estes updated her Native American Haplogroup blogpost and eliminated all references to M haplogroups—years after I informed of her mistake. I was glad to see that finally.]

 

This was not the first post that I wanted to write on Madagascar, the land of my ancestors, but I felt it necessary to do so. In the future, I will be writing about my Malagasy ancestors and how they ended up in colonial NY and NJ. 

(Just a reminder, there are hyperlinks wherever you see RED highlighted text.)

In early October, I attended The Genealogy Event in NYC that featured a lot of well-known genetic genealogists, including CeCe Moore. In her talk about what goes on behind the scenes of PBS’s Finding Your Roots, she discussed Ben Jealous’s Malagasy mtDNA and how slave ships directly imported Malagasy slaves into VA. I immediately, and proudly, told her that I, too, was a descendant of Malagasy slaves directly imported into NYC/NJ in the late 1600s-early 1700s. Ever since my cousin Andrea, a direct matrilineal descendant of our shared 2nd great-grandmother, found out her mtDNA was M23, the two of us have researched everything Madagascar. Surely, we both felt the call of our ancestors. Basically, in finding our mtDNA M23 ancestors, we felt our ancestors calling out to us—-telling us to speak for them, urging us to tell the world about how they arrived in NYC as slaves, under what conditions they lived and labored in NY/NJ, etc. In all of my blog posts, I have tried to do my best to appease our ancestors. How can we not listen to them? So, when CeCe asked me to be the Co-Administrator of FTDNA’s new Malagasy Roots Project, I happily accepted. My mama didn’t raise no fool. Besides, I firmly believe that my ancestors would be a little annoyed with me if I hadn’t accepted the position. And we can’t let that happen. No, we can’t.

The Genealogy Event, NYC, October 2014
The Genealogy Event, NYC, October 2014: Teresa Vega, CeCe Mooore, Carmen Rios and Delia Rosa-Lewis

As a descendant of Madagascar slaves brought to this country, I am particularly disturbed to see M23, a haplogroup found only in Madagascar, be placed under the rubric of “New Native American Mitochondrial Haplogroups” by Roberta Estes, a person who is well-known in the field of genetic genealogy. In no way, shape, or form, do I want people to be misled into thinking that this haplogroup has anything to do with it being a Native American one. Her hypothesis goes against current literature on M23. As a result of several of her recent blog posts, I have included references to the Malagasy origins of M23 at the end of this blog post.

Map of Madagascar Slave Trade
Map of Madagascar Slave Trade from rootsrevealed.blogspot.com by Melvin Collier

On September 18, 2014, Roberta posted “Native American Mitochondrial Haplogroups” on her blog, DNAeXplained-Genetic Genealogy. These known Native American founder haplogroups were A,B,C,D, and X. I had no problem with her designation of these haplogroups as being Native American ones, as there is enough literature to back up her claim and I was already aware of those Native American haplogroups. To be honest, I only read the beginning of her blog post back on Sept. 18th which didn’t mention haplogroup M.

From: "Native American Mitochondrial Haplogroups, Roberta Estes, DNAeXplained-Genetic Genealogy, Sept. 18, 2014
From: “Native American Mitochondrial Haplogroups”, Roberta Estes, DNAeXplained-Genetic Genealogy, Sept. 18, 2014

 

 

 

 

 

 

 

Even the haplogroup diagram, at the beginning of her blog post, made no mention of haplogroup M.

Native American mtDNA Distribution Diagram from Roberts Estes' "Native American Mitochondrial Haplogroups" on Sept. 18, 2014, DNAeXplained-Genetic Genealogy
Native American mtDNA Distribution Diagram from Roberts Estes’ “Native American Mitochondrial Haplogroups” on Sept. 18, 2014, DNAeXplained-Genetic Genealogy

It was only further down her blog post, when she listed all the Native American haplgroups alphabetically, that I now see mention of the M haplogroup.

Another one of Roberta’s blog post on September 24,2014 caught my eye with the title New Native Mitochondrial DNA Haplogroups Extrapolated from Anzick Match Results.” The methodology she seems to have used was to take the autosomal matches of living people from Gedmatch’s One-to-Many list who matched the ancient DNA of Clovis Anzick, look at the mtDNA of those matches, and then automatically deem them Native American.

Roberta wrote:

“Given that, and given the autosomal ethnicity analysis of several individuals, and given that mitochondrial haplogroups A, B, C, and D are not known to be routinely found in the European population, I decided to extract all of the associated mitochondrial DNA haplogroups. Furthermore, parts of haplogroup X are known to be Native, and haplogroup M, which is quite rare, has long been suspected, but unproven.

In some cases, looking at the Anzick matches, we know that because of the very high level of Native heritage, the individual is either not admixed or only very slightly admixed. In other words, it makes perfect sense that their mitochondrial DNA is indeed Native as well as their Y haplogroup. At nearly 100% Native, both of those lines would have to be Native.”

In the same blog post, she continues:

We found repeated instances of many mitochondrial haplogroups not previously identified as Native. In fact, with the exception of a couple subgroups of the M and X haplogroups, all of the Native haplogroups were found repeatedly in these samples.

A big pause is needed here. A very BIG pause. I am at a complete loss as to WHY she went to great lengths to extrapolate so much from an ancient sample and compare it to living people. I am aware of the article Mitochondrial Haplogroup M Discovery in Prehistoric North Americans”, but even the authors of that article state:

“The discovery of haplogroup M in the Americas is consistent with the hypothesis of a single colonization for the Americas since this haplogroup is found in Southern Siberia, the presumed homeland of the ancestors of North Americans (Bonatto and Salzano, 1997; Meriwether et. Al., 1995a). However, it also demonstrates the limitations of using genetic data solely from contemporary populations to infer the events and early population history of the Americas. Using genetic data from contemporary populations to infer early prehistoric demographic events is even less accurate when the population history has been variable over time….Therefore data based on living Northwestern North America might bias interpretations of population prehistory in the Americas (p. 646-647).”

Second, it doesn’t necessarily follow that because someone matches Clovis Anzick autosomally that their mtDNA is a Native American given. For example, I have mtDNA H1ag1 which is a European mtDNA, however, when the first Clovis Anzick matches came in, I matched Clovis Anzick at just over 7 cMs. Likewise, someone with mtDNA M23, like anyone of my 5 DNA tested M23 cousins, could have Native American ancestry from a completely different source other than their mtDNA. Her hypothesis just doesn’t add up. Besides, Roberta herself mentions over and over again that haplogroup M has not been proven to be Native American. In fact, there is also a great body of research about the East Asian to East African geographical distribution of haplogroup M.

M map

The same day that Roberta published her blog post on “Native American Mitochondrial Haplogroups,” she also crossed posted it in the Facebook Group, Native American Ancestry Explorer:DNA, Genetics, Genealogy, and Anthropology. I immediately posted a comment indicated that I thought M23 was only found in Madagascar and I asked her if M23 was now associated with being Native American. I must admit I was a little taken back because her inclusion of M23 as a Native American haplogroup went against everything I have read about M23—-that M23 is only found in Madagascar.

Response to Roberta's post on Sept. 24, 2014
Response to Roberta’s post on Sept. 24, 2014

Her response back to me was:

Roberta on 924

What I gleaned from her response was that she included haplogroup M on her list because M was found in a Native burial BEFORE Full Sequencing of that mtDNA. I still am not sure if she was referring to haplogroup M in general, or M23 in particular, but anyone who has taken a Full Sequence mtDNA test knows that this test is the most definitive test regarding a person’s mtDNA. Again, how can you include haplogroup M on a Native American Mitochondrial Haplogroup list if the one sample referred to has not been fully sequenced? What if the sample was a mistake or was related to a different subgroup? Roberta herself states that she spoke to a scientist who would have loved to have more full-sequencing and more advanced haplogroup designations. At the same time, she also states that haplogroup M is “waiting in the wings” for more confirmation that it is a Native American haplogroup????

Roberta then asked me if my mtDNA ancestors had Native American ancestry. As you can see, I clearly pointed out that my M23 ancestors were “mulatto”, a classification that also included Native Americans. However, I thought I was clear in differentiating between my M23 Madagascar ancestry and the fact that my family also has Native American ancestry that comes from a different source. As you can see, her response back to me was just a ” You know, it can never be easy, can it 🙂 Thanks.” I decided to let the matter rest a few months ago. I just discussed her position among friends and let it go. In retrospect, I should have been more adamant in questioning her. I just didn’t hear my ancestors calling out to me then. Not hearing them was a big mistake on my part!

Early this past Sunday, December 7th, when I logged onto FB and checked the Native American Ancestry group posts, I then noticed Roberta had updated her “Native American Mitochondrial Haplogroup” list and I immediately felt déjàvu. But, this time, I heard my ancestors calling out to me LOUD and CLEAR to set the record straight. So, I immediately responded back to her.

 

Sunday quest

As you can see, I was more to the point and asked her directly if she was saying that M23 was not a Malagasy haplogroup, but was a Native American one. I even attached a well-known, accepted, and peer reviewed article indicating the Madagascar origins of M23. Up until that day, she only listed her own blog post as a reference for M23. My response was followed by TL Dixon asking her more pointed questions, as he had also done last September, not only about M23, but also about other haplogroup subclades also found in Madagascar, like  B41a1a.

TL Dixon's questions to Roberta
TL Dixon’s questions to Roberta

In addition, later on Sunday, I started reaching out to genetic genealogists like CeCe Moore and Claudio Bravi, who has been analyzing Native American haplogroups since 1993, as well as James Lick, asking them about the origins of M23. They all agreed that M23 was only found in Madagascar, a fact I already knew. Somehow, I wanted a confirmation from others before I wrote this blog post.

On Tuesday, December 9th, I again responded to Roberta’s post in the Native American Ancestry FB Group.  This time I also cut and pasted my response to her blog. Roberta did respond to my post on her blog:

Roberta Estes response to me on December 9, 2014
Roberta Estes response to me on December 9, 2014

 After reading her response, I went back to her blog and re-read it. I also started reading the responses to her “Native American Mitochondrial Haplogroup” posting. I was happy to see that on Monday, December 8th, Angie Bush, a well-known molecular genealogist, also stated that M23 had a Madagascar origin and she also posted the link to the same article I had made reference to a day earlier in the Native American Ancestry Explorer FB Group.

Angie wrote:

Angie Bush's M23 question to Roberta Estes on 12/8/2014
Angie Bush’s M23 question to Roberta Estes on 12/8/2014

Her response to Angie was more detailed:

 

Roberta Estes' Response to Angie Bush
Roberta Estes’ Response to Angie Bush

Roberta finally linked the article on M23 having Madagascar origins after Angie referenced it to her. She now indicated M23 as being a “Madagascar Motif” when it is in fact the Madagascar haplogroup unquestionably. Angie also let Roberta know about the FTDNA Malagasy Roots Project as well. That being said, I still find it highly problematic that Roberta still links her “Anzick Provisional Extract”, along with the peer reviewed article that Angie and I both referenced to her, to the M23 haplogroup on her “Native American Mitochondrial Haplogroup” list.

From Roberta Estes "Native American Mitochondrial Haplogroup" blog post on Sept. 18th, 2014 and updated 12/7/2014
From Roberta Estes “Native American Mitochondrial Haplogroups” blog post on 9/18/2014 and updated 12/7/2014

In conclusion, I am left with the following unanswered questions:

1) How does one arbitrarily decide to designate mtDNA haplogroups as Native American based on autosomal DNA comparisons to an ancient DNA sample—with some comparisons at very small segments?

2) How does one initially ignore a body of literature about the Madagascar origins of M23 and, after finally acknowledging its origins, still decide to link it to being a “potential” Native American haplogroup?

3)  Why insist on repeatedly stating that haplgroup M isn’t proven to be a Native American haplogroup, but still link certain subclade M haplogroups to them being “possible” Native American haplogroups?

4) How does one attempt to publish a hypothesis on “New Native American Mitochondrial Haplogroups” without the hypothesis being analytically challenged and peer reviewed?

 

As a genealogy/DNA blogger and speaker and, as someone who is also tri-racial, my obligation is to correct the misinformation out there, pinpoint inaccurate statements automatically assumed to be facts, and elucidate the flawed analyses/methodologies that I come across as they relate to my own genealogy/family research. I want information out in the public realm that is reliable as it is true. I don’t know the answers to these questions. But, what I do know is that the M23 haplogroup is not a “Native American Mitochondrial Haplogroup.” My M23 mtDNA ancestors called me out and told me so. So, I am now telling the world.

 

 

References to M23 being a Madagascar Haplogroup:

 

http://www.biomedcentral.com/1471-2164/10/605

 

http://www.webmedcentral.com/article_view/2237

 

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1199379/

 

http://www.nature.com/ejhg/journal/v21/n12/full/ejhg201351a.html

 

http://www.africatoaotearoa.otago.ac.nz/haplogroups/9-mtdna/14-mtdna-m

 

http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0080932

 

 

If you have any of the Malagasy mtDNA or Y-DNA haplgroups below, please consider taking a FTDNA Full Sequence mtDNA test or a Y-37 DNA test and then join the Malagasy Roots Project. Please click on the title link below for more details.

Family Tree DNA – Malagasy Roots DNA Project     

Administrators

Background: The people of Madagascar have a fascinating history embedded in their DNA. 17 known slave ships came from Madagascar to North America during the Transatlantic Slave Trade. As a result, we find Malagasy DNA in the African American descendants of enslaved people, often of Southeast Asian origin. One of the goals of this project is to discover the Malagasy roots of African Americans and connect them with their cousins from Madagascar.

mtDNA Haplogroup of interest include: B4a1a1b (otherwise known as B4a1a1a1) – the “Malagasy Motif”, M23, M46, M7c3c, F3b1, R9 and others
Y-DNA Haplogroups include: O1a2 – M50, O2a1 – M95/M88, O3a2c – P164 and others