Using Matrilineal Mitochondrial DNA to Discover the Past: A Royal Case Study

(This is a paper I wrote when I was 16 or 17 that I’m only sharing now because there’s been some interest in the science behind the discovery of Richard III’s body.)


A royal legacy is a rare legacy, and as always with rareness, that legacy is coveted. No matter the insanity or the tyranny of a royal house, many would eagerly jump at the opportunity to claim to descend from a hundreds or thousands year old dynasty. The debate behind the validity of one person’s claim to be a royal can be overturned or confirmed through a genetic comparison to an actual royal, as seen with the infamous case of Anna Anderson’s false claim to be the last Russian Grand Duchess Anastasia. But what about when the tables are turned? What if, in the veins of commoner Michal Ibsen, a modern furniture maker who goes by “Mister” rather than “your Highness,” there lay billions of vital mitochondrial DNA strands which are the only pieces of damning evidence that an adolescent-onset scoliosis stricken body found under a Greyfriars parking lot is the vilified, legendary King Richard III (King 2013)? Even though Dr. Turi King and Professor Kevin Schurer presented immaculate genetic proof that the skeleton they found is “beyond reasonable doubt,” that of Richard’s, many scholars, like University College London’s Mark Thomas, claim that mitochondrial DNA’s penchant for mutating and the limited amounts of base pairs left in the 527-year-old skeleton render the University of Leicester’s February press release regarding the confirmation of the body being Richard’s unsubstantiated (Heaven). However, through the comparison of the genetic confirmation of deposed Russian tsar Nicholas II’s body using mitochondrial DNA, which was universally accepted by the scientific and historiographical community through many peer reviewed journals, and this new excavation and analysis of the last York king’s body, this paper aims to reassert that through theoretical cell biology and empirical evidence, the Leicester body is, beyond a reasonable doubt, that of King Richard III.

When the University of Leicester’s Dr. King set out to determine if the parking lot skeleton was Richard III, he and his team first had to determine the viability of the remaining DNA. The most intact remains were the teeth and the femur respectively, and the cleaned skeleton was kept under immaculately sanitized conditions in a room in the University’s Space Research Centre (King). Rather than use the limited DNA found in the nucleus, the researchers would have more luck testing the corpse’s mitochondrial DNA (mtDNA) because there are many mitochondria in each cell, as opposed to a single nucleus per cell (King). However, mtDNA cannot pass through sperm, meaning that the living or recently deceased descendent of the Plantagenet-York family must be a descendent matrilineally, although he or she did not have to be female (King). Working with multiple genealogical experts, Professor Schürer found that Michael Ibsen is a 16th great-grandson of Cecily Neville, Richard III’s mother, through his sister Duchess Anne of Exeter (King). The Leicester research team went to the university of York world-class laboratories specializing in ancient DNA, and compared the mtDNA of Ibsen, the corpse, and another second female-line descendent. The results, seen in Figure 1, are definitively conclusive (King, Schürer).

richard1

Figure 1: Graphical comparison of the mtDNA of Ibsen, the corpse (presumably Richard III), and a second matrilineal descendent of Cecily Neville.

Entirely ignoring convincing archeological proof and comparison to other verified case studies, the genetic results stand on their own. The chances of a single nucleotide polymorphism to morph either set of DNA to an identical haplogroup are infinitesimal (Rogaev 2009). This would mean that Ibsen and the corpse must be matrilineally related, and time and dates verify that the parking lot skeleton is that of Richard III.

While many things that work in theory do not work out pragmatically, empirical evidence already exists that proves that mtDNA testing is a reliable source of testing genetic relations. A prime model of that is the excavation of the very royal Romanovs.

After being executed by a firing squad through the orders of the Bolsheviks on July 17, 1918, the bodies of Tsar Nicholas II, Tsarina Alix of Hesse, the four Grand Duchess daughters, and the youngest, hemophiliac tsarevich were disposed of multiple times by the Ural Soviets (Coble 2009). The missing bodies perpetrated many rumors that a royal or two had escaped, with many people claiming to be the heir to the then-defunct Romanov throne, as explained with Anna Anderson earlier. However, in the 1970s, a mass grave was discovered to contain the bodies of the Tsar, Tsarina, and the three eldest Grand Duchesses (Coble 2009). The geologist Dr. Alexander Avdonin kept the discovery a secret until the USSR’s fall in 1991 (Coble 2009). Mitochondrial DNA testing was used to establish that HRH Prince Philip, Duke of Edinburgh (see Figure 2) was a maternal relative of one of the corpses presumed to be the Tsarina (Coble 2009).

richard2

Figure 2: Undeniable verification of maternal connection between Elizabeth II’s consort and the Tsarina.

Again, given archeological and historical facts, the bodies must have been the Romanovs. However, what makes this case different from Richard III’s is that since the corpses were less that a century old as opposed to 527 years, researchers had a much easier time test Y chromosomes using nucleic DNA. The halpotype patterning between the Tsar and his verified matrilineal relative was as similar as Richard and Ibsen’s, but they also had chromosomal evidence to back up the claims (Coble 2009). The only case of matching thymine and mismatching adening bases has been attributed to the heteroplasmic mtDNA variants in the Tsar’s matrilineal line (Ivanov 1996). The testing of the two types of DNA were done at different laboratories to decrease the bias and increase the results’ reliability (Coble 2009). However, the Y chromosome evidence proved to be unnecessary, proving that mtDNA evidence alone is substantiated enough, given that the halpotypes are rare enough and the genealogical comparison is properly verified.

Through cell biology and principle of rare halpotypes alone, any learned geneticist could take the University of Leicester’s claim that the parking lot skeleton is Richard III to be true, even without taking into account the historical and archeological facts which prove this even further. However, by taking into account peer reviewed accounts similar case studies which have further verification through Y chromosomal testing, mtDNA is proven to be both theoretically and pragmatically a reliable method of testing blood relations, even over hundreds and hundreds of years.


Works Cited

Coble, Michael D., Odile M. Loreille, Mark J. Wadhams, Suni M. Edson, Kerry Maynard, Carna E. Meyer, Harald Niederstätter, Cordula Berger, Burkhard Berger, Anthony B. Falsetti, Peter Gill, Walther Parson, and Louis N. Finelli. “Mystery Solved: The Identification of the Two Missing Romanov Children Using DNA Analysis.” Ed. Michael Hofreiter. PLoS ONE 4.3 (2009): E4838. Print.

“Doubts Remain That the Leicester Body Is Richard III.” Short Sharp Science:. N.p., n.d. Web. 08 Mar. 2013.

Ivanov, Pavel L., Mark J. Wadhams, Rhonda K. Roby, Mitchell M. Holland, Victor W. Weedn, and Thomas J. Parsons. “Mitochondrial DNA Sequence Heteroplasmy in the Grand Duke of Russia Georgij Romanov Establishes the Authenticity of the Remains of Tsar Nicholas II.” Nature Genetics 12.4 (1996): 417-20. Print.

King, Turi, and Kevin Schürer. “Geneticist Dr Turi King and Genealogist Professor Kevin Schürer Give Key Evidence on the DNA Testing.” University of Leicester. N.p., n.d. Web. 05 Mar. 2013.

King, Turi. “Extraction and Analysis of DNA.” University of Leicester. N.p., n.d. Web. 05 Mar. 2013.

Rogaev, E. I., A. P. Grigorenko, Y. K. Moliaka, G. Faskhutdinova, A. Goltsov, A. Lahti, C. Hildebrandt, E. L. W. Kittler, and I. Morozova. “Genomic Identification in the Historical Case of the Nicholas II Royal Family.” Proceedings of the National Academy of Sciences 106.13 (2009): 5258-263. Print.

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