As a follow up of the mtDNA Haplogroup H tutorial, lets take a look at a fun
topic and see how anthropologists have used mtDNA to help solve
historical questions. Let's examine some historical figures
who may have belonged to Haplogroup H, one of the largest European
Case #4: The descendents of Maria-Theresa, Holy Roman Empress: Using mtDNA to track the case of Louis XVII, son of Marie Antoinette
Marie-Antoinette (1755-1793), was executed in 1793 in Paris. After her execution, her son and daughter remained imprisoned in the Temple of Paris. According to official records, her son, Louis-Charles died of tuberculosis in the Temple on June 8, 1795. Thoughout history, historians have wondered whether the boy who died in the Temple was truly Louis-Charles, or whether Louis-Charles had escaped and survived. To add to this speculation, several individuals later claimed to be the son of Marie Antoinette. The most notable was Wilhelm Naundorff, who died in 1845 and was buried under the name of Louis-Charles Duc de Normandie, ‘Louis XVII’, and his descendents were permitted to use the name ‘de Bourbon’, the name of the French royal family.
This case remained a mystery for historians for over a century, until modern DNA testing allowed historians to finally put this case to rest. The studies conducted focused on testing the mtDNA of the remains of Wilhelm Naundorff and forensic samples from various members of Marie Antoinette’s family, descendents of Marie Antoinette’s mother, Maria-Theresa, Holy Roman Empress.
Who’s who in researching the history of Marie Antoinette’s family:
The main research groups studying this area are:
Table 1: Top peer reviewed research publications for Marie Antoinette
This table lists the most significant papers for Marie Antoinette’s DNA profile in peer reviewed journals, with links to access the original publications. These papers provide the extent of what is known today about the DNA type of Maria-Theresa’s descendents and provides answers to the question of the true fate of Marie Antoinette’s son, Louis XVII.
|Name of Scientific Article||Scientific Journal|
|Mitochondrial DNA analysis on remains of a putative son of Louis XVI, King of France and Marie-Antoinette.Jahaes et alUniversity of Leuven, BelgiumClick here to view and download a copy of the original publication||Eur J Hum Genet. 1998 Jul-Aug;6(4):383-95.|
|Mitochondrial DNA analysis of the putative heart of Louis XVII, son of Louis XVI and Marie-Antoinette.Jehaes et alUniversity of Leuven, BelgiumClick here to view and download a copy of the original publication||Eur J Hum Genet. 2001 Mar;9(3):185-90.|
Solving the case: Collecting the DNA sample from royal family members:
The first step in solving this mystery is to find DNA clues for the royal family. Since Louis-Charles is the biological son of Marie Antoinette, the true biological son of Marie Antoinette must have inherited his mtDNA from Marie Antoinette. Marie Antoinette is a maternal descendent of Empress Maria-Theresa. The following diagram shows in purple how the mtDNA is passed down from Maria-Theresa to her descendents and which one of her descendents carry her mtDNA:
The next step:
The descendent tree of Maria-Theresa indicates that the true Louis XVII should have the same mtDNA as Marie Antoinette as well as living descendents from the same line. By collecting the DNA sample from living family members and collecting forensic samples from deceased members, scientists can find out the expected mtDNA type for the true Louis XVII.
Who was tested to solve this case?
A DNA sample was collected from the following descendents of Maria-Theresia:
A DNA sample was collected from the following specimens:
Table 2: The results of the mtDNA test:
In this study, the researchers tested the HVR1 region and HVR2 region of the mtDNA but did not test the Coding region. Since many of the forensic samples were extremely old, the DNA was of extremely poor quality. The quality of the DNA for each individual is listed in the table below together with the results.
|Name||Relationship||Sample type||Sample quality||HVR1 Region||HVR2 Region||Coding Region||Publication|
|Johanna-Gabriela||Marie Antoinette’s sister||Hair||Poor sample quality||16519||263, 315.1||Not tested||Jahaes et al 1998|
|Johanna-Gabriela||Marie Antoinette’s sister||Hair||Poor sample quality||16519||152, 194, 263, 315.1||Not tested||Jahaes et al 2001|
|Maria-Joseph||Marie-Antoinette’s sister||Hair||Poor sample quality||16519||263, 315.1||Not tested||Jahaes et al 1998|
|Marie Antoinette||-||Hair||Poor sample quality||16519||263, 315.1||Not tested||Jahaes et al 1998|
|Marie Antoinette||-||Hair||Poor sample quality||16519||152, 263, 315.1||Not tested||Jahaes et al 2001|
|Queen Anne of Romania||Living descendent of Maria-Theresa||Blood||Good sample quality||16519||152, 194, 263, 315.1||Not tested||Jahaes et al 1998|
|Andre de Bourbon Parme||Living descendent of Maria-Theresa||Fresh hair sample||Good sample quality||incomplete||152, 194, 263, 315.1||Not tested||Jahaes et al 1998|
|Putative heart of Louis XVII||From putative son of Marie Antoinette, Louis XVII||Heart tissue||Good sample quality||16519||152, 194, 263, 315.1||Not tested||Jahaes et al 2001|
|Carl Wilhelm Naundorff||Claims to be Marie Antoinette’s son, Louis XVII||Bone sample||Good sample quality||16260||263, 315.1||Not tested||Jahaes et al 1998|
The results for some of the ancient samples yielded partial and incomplete data. As a result, the final mtDNA for Maria Theresa must also include the examination of living descendents for further confirmation.
What was concluded from the results?
The ancient hair samples from Marie Antoinette and her two sisters were of extremely poor quality, and even though the samples were repeatedly tested several times by the researchers, only a partial profile could be obtained. To supplement the findings from the ancient samples, a fresh blood sample and hair sample was obtained from living descendents of Maria Theresa, including a blood sample from Queen Anne of Romania and a hair sample from her brother, Andre de Bourbon Parme. The final results of the study indicated the following mtDNA type for Maria Theresa and all of her true biological maternal line descendents:
|16519||152, 194, 263, 315.1||Not tested|
The significance of this profile is that it is the key to all maternal line descendents of Maria Theresa. All descendents of this line, including descendents living today, must carry this mtDNA profile.
Solving the mystery
Once the mtDNA type for descendents of Maria Theresa was obtained, the next task was to compare the mtDNA profile to Carl Wilhem Naundorff:
|mtDNA type of true biological descendents of Maria Theresa’s maternal line||16519||152, 194, 263, 315.1||Not tested|
|mtDNA type of Carl Wilhelm Naundorff||16260||263, 315.1||Not tested|
Conclusion: The mtDNA type of Carl Wilhelm Naundorff was different from the mtDNA of true biological descendents of Maria Theresa’s maternal line, proving that Carl Wilhelm Naundorff was an imposter and not Louis XVII.
The next task was to compare the mtDNA type for the descendents of Maria Theresa to the mtDNA profile obtained from the heart of the boy who died in the Temple of Paris to see if the boy who died was truly Louis XVII.
|DNA type of true biological descendents of Maria Theresa’s maternal line||16519||152, 194, 263, 315.1||Not tested|
|DNA type of the heart from the boy who died in the Temple of Paris in 1795.||16519||152, 194, 263, 315.1||Not tested|
Conclusion: The mtDNA type of the heart from the boy who died in the Temple in 1795 was a perfect match to the mtDNA of tue biological descendents of Maria Theresa’s maternal line, indicating that the boy who died in 1795 was the true Louis XVII.
The aftermath: What has happened since this study was completed?
Now that the mtDNA type of the descendents of Maria Theresa’s line is known, amateur genealogists from around the world have used the data to compare to their own families to see if they may have links to royalty.
Although the original researchers, Jahaes et al, never attempted to use the data from the study to determine the haplogroup of this royal family line, amateur genealogists have tried to use the data from the study to determine the mtDNA haplogroup of Marie Antoinette, the most famous descendent of Maria Theresa, concluding that Marie Antoinette belongs to Haplogroup H. Let’s take a look at the raw data and see how accurate they are.
Step 1: Click here to download and print the mtDNA Haplogroup map so that you can follow along with the discussion.
Step 2: Identify the presence and absence of HVR1 markers on the map
Marie Antoinette only has one HVR1 marker, namely 16519. On the map, all HVR1 markers are in blue. Starting from the CRS, move outwards and cross off all of the HVR1 markers that Marie Antoinette does not have:
The results of the HVR1 test helps to eliminate the haplogroups that Marie Antoinette definitely does not belong to, and shows that Marie Antoinette must belong to either Haplogroup, R, or Pre-HV, or HV, or H or the CRS branch of H.
Step 3: Identify the presence or absence of HVR2 markers on the map
Marie Antoinette had four markers in the HVR2 region, namely, 152, 194, 263, and 315.1. On the map, all HVR2 markers are in red. Starting from the CRS, move outwards and cross off all of the HVR2 markers that Marie Antoinette does not have and circle the HVR2 markers that she has:
The results of the HVR2 test helps to eliminates Haplogroup R, and shows that Marie Antoinette must belong to either Haplogroup, Pre-HV, or HV, or H or the CRS branch of H. Marie Antoinette has marker 263 which brings her away from CRS. However, the presence of 263 cannot eliminate her from CRS either (click here to view the H subclade map), as such a conclusion would require more data from the coding region.
In conclusion, the results of the scientific studies show that Marie Antoinette can belong to any one of the following Haplogroups:
To confirm whether Marie Antoinette is really a member of haplogroup H, one would need to test the coding region of her mtDNA to confirm that she does not have markers 7028 and 14766. However, no coding region data was ever available for Marie Antoinette or for any of her living or decease relatives, so there is no way to confirm that she is a member of Haplogroup H. The absence of coding region data is not unexpected since the scientists in the original study were never aiming to determine her haplogroup, so the coding region was never investigated.
In conclusion, it is premature to conclude that Marie Antoinette is a member of haplogroup H, but the data from the studies to date do serve to narrow down her possible haplogroups to H, HV, and Pre-HV. Further studies would need to focus on markers 7028 and 14766 in the coding region which would provide a determination of which haplogroup Marie Antoinette actually belongs to, and if she does in fact belong to haplogroup H, then Haplogroup H subclade testing should confirm which branch of H she falls into.
To follow are other notable people in history who belonged to mtDNA haplogroup H:
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