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Haplogroup X2b4 is European, Not Native American

Roberta Estes

For many years, there has been a quandary in the genealogy community relative to the genesis of mitochondrial haplogroup X2b4.

The source of this question was the mitochondrial DNA test results of several of Radegonde Lambert’s descendants.

Radegonde Lambert, an Acadian woman, was born about 1621, possibly in Cap-de-Sable, Acadia according to the compiled research of professional genealogist Karen Theriot Reader.  She is thought by some to be the daughter of Jean Lambert, born in France but one of the original Acadian settlers, and a female reported to be a Mi’kmaq (Micmac) Indian, but with no confirmed documentation, despite years of looking.  An alternate origin for Radegonde is that she came to Acadia with her French husband, Jean Blanchard.

The DNA results of Radegonde’s direct matrilineal descendants proved to be haplogroup X2b4, but unfortunately, for a very long time, the ONLY people who took the full sequence mitochondrial DNA and had that haplogroup were descendants of Radegonde or people who did not know where their most distant matrilineal ancestor was originally from. So, the answer was to wait on additional test results – in other words, for more people to test.

Recently, I had reason to look at the results of one of Radegonde’s descendants again, and discovered that enough time has elapsed that new results are in, and based on full sequence matches and other evidence, it appears that X2b4 is indeed European and not Native.

X2b4 Mutations

Haplogroup X2b4 is characterized by several distinctive mutations, as follows.

Haplogroup or Subgroup Required Mutations
X T6221C, C6371T, A13966G, T14470C, T16189C!, C16278T!
X2 T195C!, G1719A
X2b C8393T, G15927A
X2b4 G3705A

Of the above mutations, only two, the mutations at 16189 and at 16278 are found in the HVR1 region, and only the mutation at 195 is found in the HVR2 region. The balance of these mutations are found in the coding region, so a haplogroup cannot be predicted at a higher level that X or perhaps X2 without the full sequence test.

Radegonde’s Mutations

Radegonde’s descendants carry all of these haplogroup defining mutations, and more. In fact, Radegonde’s descendants also have extra mutations at locations 16145 and 16301. We know this because at least a dozen of Radegonde’s descendants match exactly at the full sequence level, with no mutations. In other words, in those descendants, Radegonde’s mitochondrial DNA has remained unchanged for just shy of 400 years – and because they all match exactly, we know what Radegonde’s mitochondrial DNA looked like.

Turning now to other full sequence matches, we find that one of the individuals who matches Radegonde’s descendant with 3 mutations difference is from East Anglia in England, and his ancestors have never lived outside of England. In other words, this isn’t a case of someone whose ancestors immigrated and they may have incorrect genealogy.

Two more full sequence matches live in Norway and their ancestors have never lived elsewhere.

One match’s ancestor, Ally Lyon was born and married in Glenisa, Scotland in 1760.

Another match was born and lives in Germany and her ancestors were born there as well.

In summary, for matches, other than Radegonde and people who don’t know where their match was from, we have ancestors proven to be born in:

Of Radegonde’s descendant’s matches, 5 individuals who tested still live in the country or location where their ancestor was born and their family/ancestors have never lived elsewhere.

Furthermore, there are no Native American mitochondrial DNA matches for haplogroup X2b or X2b4 in either contemporary testers or ancient burials

Base Haplogroups

It’s certainly possible and feasible for Native people to have base haplogroup matches from locations other than America, meaning haplogroup X in this case, but not for full sequence haplogroup matches, like X2b4, which suggest a common ancestor in a much closer timeframe.

Looking at the history of the migration of the Native people, if haplogroup X2b4 was indeed Native, and matched people in Europe, that would mean that haplogroup X2b4 would have been born more than 12,000 years ago when it’s believed that the Native people crossed the land bridge from Asia to the Americas. In order for migration to both the Americas and Europe from a common location to occur, probably in the Altai region of Asia, that date would probably have to be pushed back further, probably more in the range of 15,000 to 25,000 years ago to a common ancestor for descendants to be found in both the New World and Europe. It just isn’t feasible that haplogroup X2b4 was born that long ago.

When Was Haplogroup X Born?

Dr. Doron Behar in the supplement to his publication, “A Copernican” Reassessment of the Human Mitochondrial DNA Tree from its Root” provides the creation dates for haplogroup X through X2b4 as follows:

Haplogroup Created Years Ago Statistical Variance
X 31,718.5 11,709.2
X2 19,233.8 2640.9
X2b 9675.9 2466.0
X2b4 5589.2 2597.2

Statistical variance, in this instance means plus or minus, so this chart would read that haplogroup X was born 31,718 years ago plus or minus 11,709 years, so most likely 31,718 years ago, but sometime between 20,639 and 42,979 years ago. Think of a bell shaped curve with 31,718 in the center, or the highest part of the peak.

X2, on the other hand, was born roughly 19,000 years ago. We do know that haplogroup X2a is indeed Native, as is X2g and possibly X2e. So some of haplogroup X2 went east, incurring mutations that would become Native American haplogroup X2a, X2g and possibly X2e while others went west, winding up in Europe and incurring mutations that would become haplogroup X2b and subclades.

The X2b4 Project

Moving now to the X2b4 haplogroup project at Family Tree DNA, in addition to the X2b4 matches mentioned above for Radegonde’s descendants, we find other occurrences of X2b4 in:

The three locations in France, shown on the map below, are individuals who descend from Radegonde Lambert and believe her most distant ancestor to be French, so that is what they entered in their “most distant ancestor” location.

Other locations on the map (below) not noted as X2b4 (above) are X2b, the parent haplogroup of X2b4.

Taking a look at the map, below, from the larger haplogroup X project that includes all of haplogroup X and all subclades, we see that haplogroup X is found widely in Europe, including X, X2 and X2b, among other subclades.

National Geographic, Genographic Project

As a National Geographic affiliated researcher, I am privileged to have research access to the Genogaphic Project data base of just under 900,000 international participants.  While the identity of the participants is not held in the data base, their ancestor information, as they have provided, is included.  For haplogroup X2b4, there were 62 results, indicating just how rare this haplogroup is worldwide.  Unfortunately, not everyone provided the place of birth for their earliest known maternal ancestor.

Of the 37 individuals who did provide a birth location for their earliest maternal ancestor, none were Native American and the following locations for places of birth for their earliest maternal ancestor were listed, other than the United States and Canada.  Many of the participants and their grandparents are still living in the regions where their ancestors were born:

Conclusion

As you can see, based on Radegonde’s descendants full sequence matches in multiple European locations, Dr. Behar’s paper dating the birth of haplogroup X2b4 to approximately 5500 years ago, the Genographic Project X2b4 locations and other X2b and X2b4 haplogroup project members’ matches in Europe, it’s impossible for X2b4 to be Native American.

Therefore, Radegonde Lambert did not have a Native mother. Her mother was very probably French, like the rest of the Acadian immigrants.

Acknowledgements

I would like to thank:

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