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Questions raised over Queen's ancestry after DNA test on Richard III's cousins
Tests on descendants of last Plantagenet king point to 'false paternity event' and reveal he may have been blue-eyed blond
The bones of the king under the car park have delivered further shocks, 527 years after his death and more than two years after his remains were discovered in Leicester: Richard III was a blue-eyed blond, and the present Queen may not be descended from John of Gaunt and Edward III, the lineage on which the Tudor claim to the throne originated.
Five anonymous living donors, all members of the extended family of the present Duke of Beaufort, who claim descent from both the Plantagenets and Tudors through the children of John of Gaunt, gave DNA samples which should have matched Y chromosomes extracted from Richard's bones. But none did.
Since Richard's identity was proved by his mitochondrial DNA, handed down in an unbroken chain through the female line from his sister to two living relatives, the conclusion is stark: there is a break in the claimed line of Beaufort descent, what the scientists described as "a false paternity event", which may also affect the ancestry of their distant cousins, the Windsors.
The other main finding overturns the most famous images of Richard, including the portrait head reconstructed from his skull that shows him with dark eyes and shoulder length dark hair. The analysis of his DNA gives a 96% probability for blue eyes and a 77% likelihood that he was blond at least in childhood.
Kevin Schürer, a genealogist and head of research at Leicester University, whose work with King on the ancestor is published this week in Nature Communications, said the results on the Y chromosomes, handed only from father to son, did not change history. "This is not a criminal investigation," he said, pointing out that the Tudors took the crown because they killed Richard at the Battle of Bosworth in 1485, not because they could prove the blood royal flowed through their veins.However the Tudors did back up their claim to the throne through descent from John of Gaunt, son of Edward III and father of Henry IV – and ancestor of the Tudor dynasty through his legitimised Beaufort children after he married his mistress Katherine Swynford.
Although the Queen is descended from the Hanoverian kings, imported 300 years ago when the Stuart line failed with the death of the childless Queen Anne in 1714 and the Act of Settlement ensured that only Protestants could take the throne, the blood lines are entangled.
Mary Queen of Scots, mother of James I of England, was the cousin of Elizabeth I who executed her for treason, and both were descended from the first Tudor king, Henry VII. The Hanoverians were descended through marriage from the Stuarts through Sophia, granddaughter of James I and mother of George I.
Working out where the line from Edward III to the present Beaufort family was broken could only be done by exhuming a lot of bodies, Schürer explained – it took him 36 sheets of A4 paper taped together to demonstrate the family trees – and is not going to happen.
Nor will he be knocking on the door of Buckingham Palace looking for DNA samples. There are, however, at least two breaks in the line. The most significant would be if John of Gaunt were not the son of Edward III – which enemies suggested in his lifetime – which would affect the ancestry of the Tudors, Stuarts and Windsors, though Schürer suspects the break came later.
The five supposed cousins who gave their DNA are not descended from Edward III, or they would share Richard's Y chromosomes, but one of the five is also not descended from the man who should be their more recent common ancestor, the 18th-century Henry Somerset, fifth Duke of Beaufort. "We actually went to his home and sat him down," Schürer said. "It's not the sort of news you want to deliver by email." King said he had taken it surprisingly well: "It explained certain things in his family history."
There is nothing startling about such rates of illegitimacy Schürer said, the estimated false paternity rate in any generation is 1-2%. Many contemporaries believed Richard's brother Edward IV was illegitimate, and he declared illegitimate his nephews, the Princes in the Tower, to justify seizing the throne.
They also looked at the possibility that the grave found in August 2012 held another man from the same date, of the right age, with battle injuries and scoliosis, and the same mitochondrial DNA. "What we have concluded is that there is, at its most conservative, a 99.999% probability that these are indeed the remains of Richard III", King said.
Case closed, they agreed – though work continues on the DNA to extract more information about the last Plantagenet king.
The continuing research is mainly funded by the University of Leicester, with King's post part funded by the Wellcome Trust and the Leverhulme Trust.
• This article was amended on 3 December 2014. An earlier version referred to Richard III's son as Richard, rather than Edward.
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