This week’s blog – compiled by CitiGen post-docs Pierpaolo Maisano Delser, Bart Lambert, and Sarah Abel – turns to one of the UK’s most widely publicised DNA testing cases in recent years: the genetic study of the remains of Richard III, excavated from a city council car park in Leicester in 2012. In this post, we consider the results of a genetic study completed in 2014 by researchers at the University of Leicester – in which the scientific team put forward evidence of a false-paternity event  in the royal genealogy, somewhere between Richard III and the 5th Duke of Beaufort – alongside a recent critical article by CitiGen PI Mark Ormrod, who calls for caution in interpreting the historical and legal ramifications of this new genetic evidence.

Finding Richard III’s family

In December 2014 a paper was published by a group of researchers at the University of Leicester, led by geneticist Turi King, describing the discovery of the remains of Richard III, king of England from 1483 until his death at the Battle of Bosworth in 1485, aged 32. Archaeological and osteological studies carried out by researchers at the University of Leicester had provided substantial evidence to suggest that these were indeed the remains of Richard III, and King’s group aimed to settle the case for good by comparing ancient DNA (aDNA) samples extracted from the remains to the genetic data of living individuals, known to be genealogically related to Richard III.

The genetic analyses were based on two specific markers: the mitochondrial DNA (mtDNA), which is always inherited from mother to child, and is equivalent to the maternal lineage in conventional genealogies; and the Y chromosome, which is passed down from father to son, and can therefore be thought of as describing the paternal lineage in conventional genealogies. In their study, King and colleagues identified two living potential female-line relatives: Michael Ibsen and Wendy Duldig, 19 and 21 generations removed, respectively, from Richard III on the maternal lineage. The team carried out a complete sequencing of the mitochondrial genome (16,569 base pairs) on aDNA extracted from the skeletal remains and from genetic samples donated by the two living relatives. The results revealed a perfect match between the mitochondrial aDNA sample and Michael Ibsen’s mtDNA, and only a single difference was found in the comparison with Wendy Duldig’s mtDNA data. The geneticists regarded this as a positive confirmation that Ibsen and Duldig were related to the deceased individual by maternal lineage over the time period considered – a result that supported their hypothesis that the skeletal remains are those of Richard III.

While it is generally easier to trace male relatives than female relatives in British genealogies, due to the historic custom of patrilineal surname inheritance in Britain, in Y chromosome studies geneticists have to deal with the possibility of false-paternity events: i.e. cases in which the child’s paternity has been wrongly attributed, for example following a sexual infidelity. False-maternity events, on the other hand (which could be a confounding factor in mtDNA studies) tend to be much less common. For the male line, the team were able to identify and contact five relatives, who, according to genealogical records, were descended of Henry Somerset, 5th Duke of Beaufort (b.1744-d.1803, himself a distant cousin of Richard III by their common ancestor Edward III, b.1312-d.1377, who was Richard III’s great-great grandfather). The living individuals contacted for the study are therefore genealogically related to Richard III by a distance of between 24 and 26 generations, and should theoretically carry the same Y chromosome as him.

Genealogical links between Richard III and modern-day relatives who participated in the University of Leicester study (from: Identification of the remains of King Richard III, Nature Comms, 5, 2014).

To improve the accuracy of their analyses, the team sequenced single nucleotide polymorphisms (SNP) and short tandem repeats (STRs) on the Y chromosome (both tests ultimately yielded similar results). Their initial results indicated that four of the modern relatives belonged to Y-haplogroup R1b-U152, while the fifth individual was assigned to haplogroup I-M170. Based on this result, the team inferred that this fifth individual had no common biological ancestor with the other four during the historical period in question, and that the difference in haplogroup assignment could be attributed to a false-paternity event that occurred within the last four generations.

More interestingly, however, when the skeletal remains were analysed, the researchers found that Richard III belonged to the haplogroup G-P287, with no match to any of the living male-line relatives. In genetic terms, this implies a false-paternity event, which could have occurred in any of the 19 generations separating Richard III from the 5th Duke of Beaufort, on either branch of the genealogy descending from Edward III. While a false-paternity event is genetically impossible to locate without analysing all people in the genealogy, in the “Discussion” section of their 2014 article the Leicester team pointed out two hypothetical scenarios in which such an event might have occurred, and outlined some speculative historical consequences that each one could have entailed:

1) If the false-paternity event happened between Edward III (1312–1377) and his son John of Gaunt – the team suggest – Henry IV (son of John of Gaunt and Blanche of Lancaster) and his direct descendants, Henry V and Henry VI, would have had no legitimate claim to the crown. The team noted that this would have had an indirect effect on the entire Tudor dynasty (Henry VII, Henry VIII, Edward VI, Mary I and Elizabeth I), since their claim to the crown was based, partly, on their descent from John of Gaunt. The same would be true, they posit, if the false paternity occurred between John of Gaunt and his son John Beaufort, Earl of Somerset (Henry IV’s half-brother and the direct ancestor of the 5th Duke of Beaufort, whose descendants donated DNA samples for the study).

2) Turning to the other branch of the family tree, the team signalled that if the false paternity had occurred in either of the three generations between Edward III and Richard, Duke of York (father of Edward IV and Richard III), then both of the brothers’ claims to the crown could be considered illegitimate.

Medieval paternity politics

In an article published in Nottingham Medieval Studies in 2016, however, CitiGen principal investigator Mark Ormrod argued against speculations by the Leicester team – later picked up and reported on by journalists from the BBC and The Times – that a false paternity event could be “of key historical significance”, having potentially serious implications for the legitimacy of the houses of Lancaster and Tudor (which descended from Gaunt) to rule. In his article, Ormrod acknowledges that insinuations that kings were not the true biological sons of their fathers were not uncommon during the Middle Ages; however, he points out that they were much more commonly found among popular rumour and gossip than in political discourse. Such rumours – which aimed at undermining the monarch’s moral right to rule – were particularly common during the period of dynastic instability in England from the 1450s to the 1480s. However, in the absence of the ability to prove parenthood through any scientific means, the only way to establish false paternity in medieval law – and for the event to have political implications – was for the husband of an adulterous mother to disown her child.

In his article, Ormrod shows that such rejections were highly exceptional during the medieval period. Despite the popular rumours that his son was a bastard, Edward III never disowned John of Gaunt, leaving political adversaries powerless to challenge him. Meanwhile, even though John of Beaufort’s status as Gaunt’s legitimised son might have invited such attacks, there is no indication of that Gaunt denied his fatherhood of Beaufort, and the latter’s parentage was never challenged politically either. And even in cases where there is quite a lot of circumstantial evidence for a false paternity event, such as that of Richard of Conisbrough (an ancestor of Richard III), the issue was never picked up on or utilised by political opponents, for lack of evidence of the father having disowned his child. To argue, then, that a biologically detectable false-paternity event should have affected the legitimacy of any of these individuals’ descendants to rule England runs contrary to an understanding of medieval legal and social practice.

Rethinking genetics and kinship

In popular media reports, genetic evidence regarding an individual’s paternity (historic or contemporary) is often portrayed as the bottom line in establishing the “truth” about such relationships. In the Richard III case, for instance, it may be tempting to see the results of the genetic tests as uncovering an old secret that now threatens to throw the legitimacy of the British royal lineages into jeopardy. Yet, as we have seen above, historical research indicates that the medieval gentry was wise to the possibility (and perhaps the actuality) of sexual infidelity within noble families, and had established cultural norms that served to protect royal dynasties from being toppled by accusations of adultery or malicious tales of imposter-children – which, Ormrod indicates, were frequent enough at the time.

Rather than acting as grounds for a reassessment of the legitimacy of the Tudors’ claims to the throne (and potentially, by implication, the entire historical line of succession ever since), this case can serve as a reminder that genetic evidence for biological relationships do not always line up with cultural notions of kinship, which tend to be the basis for local laws of inheritance and succession. This fact has been readily acknowledged by anthropologists working with communities who have consented to undergo genetic testing in order to learn more about their population history.

In a paper relating to his work with Inuit communities in northern Alaska, Arctic Canada, and Greenland, CitiGen PI Gísli Pálsson points out that the genealogical structure of kinship that is engrained in the concept of genetic ancestry may be at odds with the way that some Inuit conceive of relatedness within their communities. In some groups, for instance, Pálsson notes that “a man who has genetically fathered a child is its ‘real’ father only to the extent that he establishes paternity by his actions, by looking after the child and caring for it after its entry into the world”, and that a child’s character and defining traits – the sense of who she is related to within the community – are usually defined not by the genetic inheritance that she receives from her birth parents, but by the names she is given by relatives, friends and acquaintances as a child and later in life.

While the link between Richard III and contemporary Inuit groups may seem tenuous, we can suggest that something similar is at work here. Kinship norms and structures in different societies and at various historical periods should not simply be viewed as “beliefs” whose logic stands to be corrected by genetic technologies. We only need to look as far as the ambivalent experiences of adopted individuals who see their birth parents for the first time, and feel that they are meeting perfect strangers, to understand that kinship is more than just genetics. In all societies conceptions of kinship are fundamentally fluid and flexible. Yet, at a time when personal DNA testing is becoming an increasingly common way to re-establish “family ties” that have been lost for several generations, it is worth wondering how far this might stretch our concepts of kinship, as test-takers discover 3rd, 4th, 5th and 6th cousins who – after generations of mutual obliviousness – can be brought back into the family tree at the mere click of a button.

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