Turi has presented a BBC Radio 4 documentary called Genetics and the Longer Arm of the Law looking into the advances in forensic genetics in the last 30+ years. https://www.bbc.co.uk/programmes/m000ysvq
She is a regular contributor to BBC Radio Leicester for their science stories. She hosts podcasts for the University of Leicester and the National Institute of Health Research interviewing researchers about their work. She has also recorded podcasts of her own.
Turi featured on The Life Scientific being interviewed by Jim Al-Khalili. You can listen that via The Life Scientific website – https://www.bbc.co.uk/programmes/m0006m3f
Turi featured in BBC Radio 4’s The Reunion as one of the key members of the Richard III project. You can listen via The Reunion website –https://www.bbc.co.uk/programmes/m000tvgf
She also helped shape and record the Expressive Minds Media podcast series here. https://www.expressivemindsmedia.com
Professor Sir Alec Jeffreys and the discovery of DNA Fingerprinting
Transcript: Professor Sir Alec Jeffreys and the discovery of DNA Fingerprinting
On the morning of Monday September 10th, 1984, an as yet little-known scientist was looking at a result of an experiment, he’d set running the week previous. He was trying to look at genetic variation between individuals as a way of looking at how diseases might run in families. But what he was about discover, was a technique that would change the world.
The discovery of DNA Fingerprinting was a glorious accident, and nobody believes me, and that was a moment that changed my life. We had a technician from the department and her mother and father. We could see how we could tell the 3 apart and how the technicians DNA fingerprint seemed to be a composite of part of the mothers and fathers. So, the moment of discovery, the first 30 seconds were perplexity, this looks like a complicated mess don’t know what’s going on here. Then the penny dropped, we suddenly realised, oh wait a minute, this is potentially a method for biological based or DNA based biological identification.
So, this was revolutionary. I mean really revolutionary in genetics. Up until this point, we knew that there must be genetic variation but nothing that could actually tell people apart from one another just using their DNA. Alec and his team, and indeed his wife, Sue, quickly saw what the implications were and its potential use in the wider world. And one of those uses was forensics. Could it be used to identify someone from the sorts of samples you would find at a crime scene.
I brainstormed with my technician, that was Vicki Wilson who was helping with this work, and we came up with a list of things that maybe you could use this for. So, we could see Forensics, you know, identifying blood stains at the scenes of crime, identifying rapists from semen recovered from victims. The other question of course for Forensics is where the DNA actually survives in old blood samples, and on that very first day, we were sufficiently alive to that question, that I was running around the lab sticking pins in my finger and leaving blood drops all over the place, making up mock crime scenes. The answer is yes, you can get DNA out of a blood spot, most certainly.
It worked. You could get DNA from blood even after it had been on the lab bench for a few days. But Alec thought it’s use for forensic cases would be years away.
We thought at the beginning we could see the applications, but we thought, for example in criminal investigations DNA would be the technology absolutely of last resort. So, you go to a crime scene, you do all your other tests and when everything has failed miserably, then out of desperation you wheel in DNA. And so, I thought it would be a technology of last resort, used in very few criminal investigations, completely wrong.
But it’s first use in a forensic case was only around 2 years away. And it was local. Two young girls had been raped and murdered, three years apart, in 1983 and 1986 in Enderby and Narborough, two villages just outside Leicester. The modus operandi suggested it was the same individual and a young man, Richard Buckland, had confessed to the killing in the second case, that of Dawn Ashworth, but staunchly stood by his story that he hadn’t killed Lynda Mann in 1983.
David Baker was the head of Leicestershire CID and leading the investigation at the time and was stumped. The crimes looked linked, surely Richard had also committed the first crime.
David had heard about Alec’s discovery when it hit the news the year previous and he had a brainwave. If DNA could identify an individual, could it show that Richard Buckland had committed both murders.
I was the Head of CID at that particular time and in charge of the inquiry into the death of Linda Mann, and then subsequently that of Dawn Ashworth. And during the Dawn Ashworth inquiry a young man came into frame, and he was making certain admissions into the death of Dawn Ashworth but not Linda Mann, and we felt that both murders were connected.
He was questioned in respect of Linda Mann and denied all knowledge of it, and it was then that I recalled reading an article on DNA in the Leicester Mercury, with the work of Sir Alec Jeffreys.
Sir Alec takes up the story.
So, the police had heard of our DNA work through the press, and wondered whether DNA could help, first to confirm the guilt of this man, with respect to the second murder, but more important to try and tie him into the first.
So, we took that on with the full expectation of getting absolutely nothing, we’d never attempted anything like this before. So, we received the very intimate forensic samples, which I have to say that was chilling, that was a moment I found very uncomfortable, so, you know, doing a paternity case is one thing, handling samples from a murder scene is something very different.
So, we got DNA profiles from semen recovered from both of those victims. So, first question is do you get the same profile from both victims? Answer, yes. They had indeed been raped and presumably murdered by the same man. Was the young man, who confessed to the second murder, was he guilty? Well, if you looked at his DNA profile it’s a complete mismatch.
So, that young man was then released and I’m pretty sure without DNA and given his confession and circumstantial evidence, he probably would have gone to jail for the rest of his life. So, the first time DNA was ever used in anger, was not to prove guilt but to prove innocence and that’s a really important point.
So, what the science showed, completely changed the course of the investigation. After releasing Richard Buckland, what next? How to catch the killer before he killed again? Again, it was David who had a brainwave to set up a DNA dragnet to flush out the killer. Alec again:
What then happened was the police decided to completely believe in this arcane new DNA technology. So, they launched locally the world’s first DNA based manhunt, to see if they could flush out the true perpetrator.
David takes up the story.
We thought about using DNA as a test for all the men in the villages of Narborough, Enderby and Littlethorpe. So, we set up a system whereby we would invite all the men voluntarily to come to a centre where we could take samples of their blood and have them blood tested as part and parcel of the inquiry.
But David knew the killer might try to evade the dragnet. So, he had people turn up with something like a passport to help identify them. But still, the killer slipped through the net.
We’d also realised that somebody might try and evade the system. So, we asked them to bring a letter which we sent to them, inviting them for the blood test, together with a means of identification, driving license, passport, photographs. And of course, we realised that if somebody went to those extents then they were letting somebody else into the secret as it were, and we’d be able to come back with the person responsible. And of course, that’s exactly what happened, is that, whilst we were taking samples, Pitchfork arranged for a man named Kelly, who worked with him, to come to the blood centre at Enderby and put himself forward for the test in Pitchfork’s name.
But, fortunately for us all, Ian Kelly let slip what he’d done. He had stood in for the killer, Colin Pitchfork, a fellow bakery worker who lived in the nearby village of Littlethorpe.
But of course, Kelly couldn’t keep his mouth shut, which was what we expected, and of course he spoke to a young girl. They had a works outing at the Clarendon Arms and during in the evening Kelly mentioned to the company there that he’d taken the blood test for Pitchfork. And it was about a week or 10 days later the young lady, who was privy to the conversation, came and saw a police officer that she knew, and told him of this, and of course immediately we took steps to identify Pitchfork and Kelly and there and then arrested them as soon as we established their identities. And of course, Pitchfork, straightaway he admitted responsibility for both murders when he was arrested.
It must have been quite a moment for the police, after all that hard work.
David Baker again.
Well, it was a relief, I mean there was a lot of pressure on us to find the person responsible for the murders and of course, you know, everybody was looking at you as the person responsible for the inquiry and, you know, everybody was sort of wondering whether or not the DNA would come forward and of course it did.
But at the heart of this were two families left grief-stricken by the loss of their daughters at the hands of Colin Pitchfork. Barbara, Dawns mum, talks about the community spirit and how grateful she was to all those men who took part in the dragnet.
Obviously, thanks have got to be given to everyone that turned up and took the blood testing, to start with, because without them coming forward we wouldn’t have been able to proceed with it.
It really was a combination of dogged police work, the community pulling together and, of course, the science that helped make it possible. Kath, Lynda’s mum
I got a phone call then from Mr Baker to say we’ve got him, obviously that was because he had persisted with the case and gone to Mr Jeffreys, with his amazing discovery.
This was the first time where DNA fingerprinting proved instrumental in a forensic case. First exonerating someone of crimes they didn’t commit and secondly in convicting the man who had committed them. Colin Pitchfork was handed a life sentence with a minimum of 30 years. The Lord Chief Justice at the time, Lord Lane, said he doubted that he should ever be released.
As it is, he was released on September 1st, 2021, a mere 9 days to the 37th anniversary of when DNA fingerprinting was discovered by Sir Alec all those years ago. If he committed the same crimes today, he would most likely be given what’s known as a whole life order, where the crimes are considered to be so serious, he would never be released from prison.
It’s hard to overstate the importance and significance of Alec’s discovery. For a scientist who thought that his discovery would be a technique of last resort, it has proved to be one of the very first that police turn to in their investigations. Today, forensic DNA databases around the world lead to the resolution of thousands of crimes, bringing some sort of justice for the victims and their families. Scientific discoveries are truly thrilling but in terms of real-world applications, DNA fingerprinting figures as one of the most momentous scientific discoveries of the 20th century.
But let’s give the last words to the mums of the victims, in that very first forensic case where DNA Fingerprinting was used. What has it meant to them?
Kath, Lynda’s mum.
DNA to us, which I do call Linda’s Legacy, because to me it is, it’s all I can think of as being the one good thing to come from it.
And finally, Barbara tells us of the legacy of that case and the science.
Look at all that it’s done since and how it’s been refined and things like that and thank goodness. I look up to the heavens every day and say there we are Dawn we’ve caught another one and helped catch them unknowingly, but indirectly she has.
The Genetic Analysis of King Richard III – Professor Turi King
Transcript: The Genetic Analysis of King Richard III - Professor Turi King
So many people ask me about the genetic analysis in the Richard III case, so I thought I would do a little podcast about it.
I think to start with is that I don’t think that many people realise how intense this project was: It was working stupidly long hours, under difficult conditions and under really intense pressure.
It took two years of work but in two parts and this is because a film crew had been brought in and they wanted the results to fit their schedule, not the scientific one, and I’ll chat about that later. And not only did it involve dealing with the inevitable politics around the case, there was the really intense media and public interest and with it came literally thousands and I mean thousands of emails from people, mostly from people saying they thought they were related to Richard III, but not a small amount from people threatening various things, including one from someone who repeatedly emailed to say that they would sue me if I didn’t give them the results personally, rather than publish in a scientific journal, as is the appropriate route to go.
Alongside this was the double testing on everything in multiple locations, having to design new experiments because they hadn’t been done before, all knowing there would be intense scrutiny of everything that was going to be published both by the scientific community and others and all the while knowing that what hung on this was the identification of a former King of England and when and where he would be reinterred.
So, let’s start the beginning. I was first brought on to the Richard III project in the summer of 2011 by Richard Buckley. So, he was the director of the University of Leicester Archaeological Services and has well over 30 years of experience excavating in Leicester. He’d heard about me and my slightly unusual background. So, I did archaeology in Canada and Greece and the U.K. before I went on to read archaeology and anthropology at the University of Cambridge, and then I moved into genetics at the University of Leicester.
So, I was lucky enough to have Professor Sir Alec Jeffreys, who invented DNA fingerprinting on my PhD panel, many years previous. So, Richard asked if I wanted to be involved in this project and so I was the first person to join the University of Leicester team after Richard Buckley. Richard also gave my number to Philippa Langley. So, Philippa was from the Richard III Society, and it was she who had first approached him about working in partnership on an excavation. She, needless to say, had a lot of expertise around Richard III himself, but not around archaeology or genetics. So, this is where we at the University could add expertise and the vast majority of the funding to the project.
In addition to this, as the Friary where Richard III was known to have been buried was land now owned by the council, and also privately owned, in order for the excavation to be able to proceed, there needed to be what’s known as a written scheme of excavation, that had to be presented to the City Archaeologist and permission granted by the landowners. So, it was Richard Buckley who prepared all that and submitted it as part of putting the University’s part of the project together.
Now the idea was that if during the course of the excavation we came across the remains of an individual that could be a candidate, for being Richard III, then I would lead the genetic analysis for the project. So, I spent a lot of time talking to Philippa about how the University of Leicester Archaeological Services could do the excavation under the right conditions, known as clean conditions, and how the genetic analysis could be carried out. And I also did some filming with a television company for her in the summer of 2011. She had brought them in because she was hoping to do a television programme about the excavation, and she needed me to talk on camera about how the genetics could be done. So, that she could secure a production team and a commission.
So, I think it’s really important to point out here that the University paid for the majority of the excavation and all of the post-excavation identification work. Including, our salaries, they had to pull some of us off of other projects and backfill our posts, as well as all of the costs of the research. What the Richard III Society did do, was they commissioned a desk-based study of the site, which gave the history and included where the likely location of the Friary was, based on previous evidence from various sources, most of which was very well known.
Phil Stone who was Chair of the Richard III Society, until he sadly passed away in 2020, paid for the ground penetrating radar himself, through the Society. The Richard III Society then contributed some of the money for the excavation itself, but nothing towards the post-excavation and identification research itself, and certainly not our salaries, that was covered by the University of Leicester. So, we weren’t commissioned for this, the University entered into it as a partnership.
So, my role would cover two main areas. As this was going to potentially involve DNA work, trying to retrieve DNA from ancient remains, I was the lead on how we could excavate under what’s known as clean conditions. Now this is because after death our DNA degrades and breaks down and becomes very damaged, until there’s no DNA left to be able to look at or sequence. I would say kind of think of it as a book. So, as the DNA starts to break down you might still be able to read some of the pages and as it breaks down even further you might still be able to read some of the paragraphs and eventually it gets to the point where it’s broken down so far, there is nothing left to read. If you handle or breathe on the remains, then you contaminate it with lots of your own DNA, which can swamp out the signal of any DNA that might be left in the remains.
So, best practice is to work to minimise contamination of the remains with DNA from any one of us on the team, starting from the excavation from day one. So, excavation of any candidate remains would need to be done with us archaeologists wearing gloves, face mask, suit, to protect the remains as much as possible from our own DNA. So, that’s why you see pictures of me and Jo Appleby, our lovely Osteologist, in what looks like CSI gear on the excavation, and anyone involved in the project gave a DNA sample, so I had a record of those to rule out any contamination.
Now, the second bit of my role was carrying out the genetic analysis on any putative remains of Richard III, to see if the genetic data was consistent with these being his remains. Essentially, what is done, in a case like this, is the DNA from the putative remains of Richard III, would be compared against a known relative. Now then, this could have been someone like a close relative, but that would involve getting your mitts on someone else’s remains as well, which might mean exhuming them. Something which is quite rightfully not something you do lightly, and you need permission to do so.
Secondly, the issue of DNA degradation still applies, after you’ve gone through the process of exhuming remains, there may not be any DNA left to analyse. So, the alternative is to use a living relative, bearing in mind that Richard III left no known living descendants. Now there’s something quite important here. Because of how our DNA is inherited not just any old relative would do. So, our DNA is a complex mixture of that of just some of our many ancestors. So, given the number of generations since Richard III, I had to concentrate on using two sections of our DNA that are passed down in a really simple way, Mitochondrial DNA, and the Y chromosome.
So, let’s have a look at these a little bit more closely. Okay, Mitochondrial DNA is a small circular piece of DNA and it’s in the egg. So, an egg gets fertilised by a sperm and then this starts dividing and each time the cell divides, copies of the Mitochondrial DNA are also made. So, the Mitochondrial DNA that you have is yours, but the starting template was given to you by your Mum. So, Richard III would have received his Mitochondrial DNA type from his mother, who would also have passed it down to all of her children, boys, and girls. So, all of Richard’s brothers and sisters should have the same Mitochondrial DNA type and as it’s passed down in the egg, none of his brothers could pass it on, but any of Richard’s sisters, if they had children, they would also pass it on to their children, and so on.
Now then, as the DNA is copied, for example, to a cell that’s going to be a sperm or an egg cell, it can be a perfect copy, or it can get a little typo in it. Now these typos are known as mutations, but we know how these work, so we can take them into account. So, his female line relatives should have an identical or near identical version of Mitochondrial DNA as him.
It’s important to say that no one else has Richard’s DNA, he has his own DNA, everyone has their own DNA, which is unique to them, but you can expect relatives to have sections of DNA that are in common with one another, because of that shared ancestry. So, let’s have a look at the Y chromosome. So, the Y chromosome has on it, putting it really simply, the gene that sends the fetus down the path to becoming a boy. So, only men have it and they pass it down to their sons only. So, it travels just down the male line. So, same thing, no one will have Richard’s DNA here either, but if they’re a male line relative, then they should have identical or a near identical version of the Y chromosome that he has.
Okay, so now that we’ve got DNA inheritance out of the way, where do we find these relatives then to use as comparators? Okay, Philippa did tell me that a fellow Ricardian, John Ashdown-Hill, had identified a woman who he thought was descended from Richard III’s eldest sister Anne of York. This was Joy Ibsen, who colleagues of John Ashdown-Hill in Canada, had tracked down a few years previously. She had done a DNA test with a testing company all those years ago, but it was really low-resolution testing and I would need another sample to be able to do the tests at the proper resolution for this study.
Now, Joy sadly passed away several years ago, but obviously she would have passed down her Mitochondrial DNA type to her children, one of whom, Michael, was living in London. Now, this next bit of the project was really critical. If I’m going to compare the DNA from any remains with a known relative of Richard III, to see if there’s a match, then I have to be certain that the person I’m comparing the DNA from the remains to, is definitely a relative and related in the way that we think they are.
So, I say it’s like a puzzle of two halves, we have to have one side of the puzzle nailed down, as being correct, and then see if the other half of the puzzle fits. So, I chatted to John about the family tree that he’d come up with and he directed me to read his book and a paper that he’d written, but it became clear from reading those, and he was the first to admit this, that his grasp of the genetics came from reading a popular science book. So, there were some scientific errors in what he was writing, but that’s fine for the sort of articles he was writing, which were history ones in non-peer-reviewed journals. And what was great about this project was that everyone brought their own area of expertise to the party. His work on the history of Richard III was extensive, far more than I knew, and I could bring my genetics expertise to the project. But the real issue was that in none of his articles or books did he give the sources for the family tree, which he laid out, and it’s a well-known saying in the genealogy world, that genealogy without documentation, is mythology. So, we really needed to double check this tree and make sure that it was correct.
So, this is where Kevin Schürer came in, working with David Annal, who is former Principal Family History Specialist at the National Archives, Maurice Bierbrier, a Canadian like me, who used to be an Assistant Keeper at the British Museum and Bob Matthews of the Settlers Museum in New Zealand. So, they worked to dig out every piece of documentary evidence to prove that this family tree was correct. Bob came in because while he was doing this what I really wanted to know was could we find anybody else, because it helps to build the case. If you have a couple of people from the tree who are related through the female line on paper, and they both have the same Mitochondrial DNA type, then that is giving you confidence in that family tree being correct.
So, they also found a second female line descendant of Anne of York, this was Wendy Duldig, whose family had emigrated to New Zealand some generations previous. So, Kevin had been given this name and so we were in his office, and we put it into google, like you do, and on one of the pages was a phone number, but it was an old page, so we wondered if it would still be valid. Kevin was off to a meeting, so I said I would grab a coffee on the way back to my office and just try it. So, when I first ring, she’s actually apparently in the bath, so I leave it for an hour or so and try again, and I get this lovely lady who I go, hi my name is Turi King and I’m from the University of Leicester and you may have heard that we’ve recently been doing an excavation and we think we might have found the remains of Richard III. Now, I’m doing the genetic analysis and we need someone who is related in a particular way to him, so we can compare the DNA to see if it’s a match and from our research we think you’re one of these people. And the first thing she said to me is, am I on the radio? Is this a crank call? which got me laughing because seeing it from her point of view it’s a pretty unusual request for someone to receive of a morning.
So, I talked Wendy threw it all and she said she would think about it, and I said I would have Kevin give her a ring to talk her through what the team had found. So, then Kevin rings her and she eventually kindly takes part. Incidentally, I love her surname Duldig, because it was anything but a dull dig that we had been on and the other thing was that at the time she wanted to remain anonymous, so only Kevin and I knew who she was.
So, I’ve been working on the Y chromosome and genetic genealogy for well over 20 years and I wanted to look at the Y chromosome lineage as well. So, this would mean finding male line relatives. This was actually pretty straightforward to do, with Richard being descended from a noble family. So, this is where Kevin went through Burke’s Peerage, because there was something important here to consider. So, the Y chromosome is passed down through the male line and so that means that a man has the Y chromosome of his biological father, who may not be the father that was recorded. So, it was really important for me not to be testing fathers and sons or closely related individuals because that’s essentially paternity testing. So, I only wanted people who were related no closer than second cousin and in the end, we decided to go for five living male line descendants of Henry Somerset the 5th Duke of Beaufort, who was born in the 17th century.
So, all told I had 7 living relatives to test. Two of these were from the female line side of things, to go for Mitochondrial DNA testing and the remaining 5 were from the male line side of things, for Y chromosome testing.
In terms of Mitochondrial DNA, it was DNA sequencing of the entire Mitochondrial Genome. In terms of the Y chromosome, it was a case of doing two different things, one was a version of DNA Fingerprinting, but just on the Y chromosome and the other was looking at little sections of DNA sequence on the Y chromosome. And you do the same thing for both the modern DNA and the ancient DNA.
So, doing the modern DNA analysis is really straightforward, you just get a DNA sample and do the DNA testing. The ancient DNA work I was going to be doing the same thing but required a slightly different approach. As I said before, the DNA in ancient remains is in tiny amounts, it’s damaged and it’s in tiny fragments, so you have to be really careful not to contaminate it. And this was where the designing of experiments came in, because though the basis of doing these experiments was standard, designing them to fit for the ancient DNA, which was in tiny fragments, hadn’t been done for the bits of DNA that I wanted to look at. So, this meant me designing several new assays, testing them in modern DNA and then using them on the ancient remains.
So, you have to do this work in what’s known as a clean lab. So, this is where you work to certain protocols to minimise contamination. So, you work in the full CSI type gear, and you keep the lab ultra clean. Now to this day we don’t have clean labs at the University of Leicester and with this sort of high-profile project you always replicate your results in two separate labs, to make sure you’re getting the same results in both labs. So, I went and did the work in the labs at the University of York, in the lab of Michi Hofreiter, with Gloria Gonzalez Fortes. And also, in the lab of Patricia Balaresque with Laura Tonasso. And they will tell you I spent very long hours working in those labs on this project, because in the first instance I was working to a deadline for the initial results. In fact, I was working right up to the wire for those results because Philippa had brought in that television company and they wanted us to announce the results to fit their television schedule. So, in order to be able to do this for what they wanted, I just concentrated on a very small, very variable region of the Mitochondrial DNA, that though it would not be good enough to publish a scientific paper, it would give a good idea if this was going to be a match. And then what I could do was do the bulk of the analysis once the announcement was out of the way.
And I can’t tell you how odd that felt being a scientist. So, normally what happens is that you do the entire project from start to finish, you write it up, you send it to a journal for publication, the journal then sends that out for peer review. So, this is where other scientists read the work, ensure the science has been done properly and it is publishable and so on. And they can come back with basically three main decisions, reject, the paper isn’t good enough, second, okay this looks okay but the team needs to do more experiments or changes first, or finally, yes, this looks great publish it. So, to stand up and give the results without going through this process was going against everything that you normally do as a scientist. It also meant I had scientific colleagues, not realising the background to this, questioning me and my science, which was pretty hard to take. I spent a lot of time explaining to them that the reason I had done this was because of the odd nature of the project and that there was more to come.
So, the results I gave on February the 4th 2013 were preliminary results, but I knew that to publish it would require a lot more work. So, cue me spending many hours in the ancient DNA lab, designing assays, running experiments and so on, to get the full Mitochondrial DNA data and the Y chromosome data. And the other thing I did was have colleagues confirm all of my work on the modern DNA side as well. Basically, I wasn’t going to take any chances with this.
So ultimately the results came down to this, there was a perfect Mitochondrial DNA match between Michael Ibsen and the skeletal remains. There was a single Mitochondrial DNA difference between Wendy and Michael and the skeletal remains. However, it was one of the faster mutating sites of Mitochondrial DNA and we could take that into account.
Now the Y chromosome threw up something interesting, but not at all surprising from my point of view. There wasn’t a DNA match. Now this could easily be down to what we term a false paternity, so that’s where the biological father is not the recorded father, and it can be reasons such as an unrecorded adoption or one man’s child being passed off as that of another. It’s known to happen at about 1-2% per generation. Now there’s been 19 generations between Richard III, you go up to Edward III and then down the tree to Henry Somerset, who is the common ancestor of the five men who I tested. Now that’s plenty of time for at least one, if not more false paternity events to take place, it was actually a bit more complicated than that. So, there must have been at least two false paternities and one of them was recent. So, one of the five men I tested did not match the other four and on going to speak to the family it turned out that they had been aware of a family story, that an ancestor’s child was not his biological child. They just hadn’t mentioned it. Still to be on the safe side I got another DNA sample and I repeated it and had a colleague do it blind. Now the other four were not identical to one another, but we know about how mutations occur, and the mutations we found were as you’d expect, given how they’re related. So, this gave us a Y chromosome type of Henry Somerset, who was their common ancestor. Now, that did not match Richard III, but as I say, that’s not unexpected.
Now I have to preface this strongly with the fact that we don’t know where in these 19 generations that a false paternity or even false paternities occurred, but what was interesting was that some of the people in those 19 generations were part of the monarchy at the time, and so if it happened in any of those links in the chain, that would be interesting in terms of the historical monarchy.
So, Edward III forms the top of the genealogical tree, from him descends the male line lineage leading to Edward IV and Richard III and if it happened in there then that could affect the Yorkist Plantagenet Kings. Descending the other way from Edward III you have the male line lineage leading to Henry Somerset, that passes through John of Gaunt, the father of Henry IV and leading to the Lancastrian Plantagenet Kings of Henry V and Henry VI. John of Gaunt’s illegitimate son, John Beaufort, was the great grandfather of Henry VII and the Tudor dynasty of Kings and Queens. So, we put this possibility in the academic paper just saying that it was an interesting finding.
So, for me as a scientist, the big thing when we published the paper was that it had been a huge amount of work and I was very proud of the science. But the main thing the press were interested in was this false paternity and should Queen Elizabeth be on the throne. So, that was a bit mortifying. I spent a lot of time telling people to, you know, just back up a bit, we don’t know where the false paternity or more than one had taken place, and even if it was in those couple of generations, and statistically it was more likely to be elsewhere in the tree than just those two generations out of the 19, it would not affect the modern monarchy. First of all, Henry Tudor descended from a line that was banned from ever taking the throne. So, Henry Tudor had taken the throne by conquest. Secondly, the throne doesn’t pass down in a straight line from Henry Tudor to Elizabeth II, there are plenty of detours along the way. So, it’s not relevant to our Queen’s reign at all. Still, that was what I spent most of my time explaining to the press about.
Now the final thing was to carry out the statistical analysis and this was the all-important probability that these were the remains of King Richard III. And the way we did this was the same way as a missing person’s case is done. Richard III is missing, last seen being buried in the choir of the church of the Grey Friars in Leicester. So, you have a list of things that you’re looking for to help identify the remains, just as if someone goes missing you list, where they were last seen in a certain location, they have this appearance and so on. Well for Richard the list was, he was male, he was age 32 when he died, he died in 1485, we know he died in battle, he may have had some sort of spinal abnormality, as famously portrayed by Shakespeare, but he was writing a long time after Richard’s death, so you really have to look at contemporary descriptions of Richard’s appearance, of which there are two. So, one doesn’t mention anything about a spinal abnormality but does say he’s got slender arms and thighs, and a great heart. The other mentions that he had one shoulder higher than the other, so possibly a spinal abnormality. We know he was high status, and we know who he’s related to, so we can do DNA analysis.
So, let’s have a look at the evidence we could bring to bear on this and could bring to the statistical analysis. One, the skeleton was male, we know Richard was a boy and we could tell that the skeleton was male from the bones, and I could also do a DNA test to check as well, which I did. Now, we can tell from the bones that this person’s age at death was around 30 to 34 years old, Richard died when he was 32. Three, the model radiocarbon dates came back as 1456 to 1530, we know that Richard died in 1485. This skeleton had battle injuries, that’s our number four, and we know that Richard died in battle. Number five the skeleton had scoliosis of the spine and we know from those contemporary sources, or at least one, that he may have had a spinal abnormality. Six, the skeleton was found in a high-status part of the church, Richard was high status. Seven, now there was another bit of evidence that we could have brought into this, but we didn’t, now that was the stable isotope analysis, which showed that this person had a high-status diet, but they were buried in a high-status part of the church, so that starts to get circular and it could bias the results, so we actually kept them out. Indeed, the whole time we did this, we kept erring on the side of caution and erring towards it not being Richard. We were always trying to play devil’s advocate. Eight, now the y chromosome data didn’t fit, but that’s fine, you just build the statistics into the case. Nine, finally there was a Mitochondrial Genome DNA match with two living female line relatives, for a rare Mitochondrial DNA type.
So, when you bring all of that together you get what’s known as a likelihood ratio. Which is where it’s, how likely this is Richard III versus someone who by chance, fits all of the criteria but isn’t Richard. And the likelihood ratio is 6.7 million to 1. So, this then translates to a probability of 99.999 to 99.99999% that these are the remains of Richard III.
So, needless to say the evidence was overwhelming that these are the remains of king Richard III and that released him to be reinterred in Leicester Cathedral in 2015. So, as I said at the beginning, this was the end of two years of huge amounts of work, under really tremendous pressure, not least because so many people hung on these results, to finally reinter a former King of England.
How DNA inheritance works – Professor Turi King
Transcript: How DNA inheritance works - Professor Turi King
Not all of our DNA is inherited in the same way, so I thought it might be useful to quickly go through how different parts of our DNA are inherited. So in terms of inheritance we can actually section out our DNA into kind of 3 different types, but first things first let’s start with some DNA basics.
Okay so the vast majority of our DNA is found in a structure in the cell known as the nucleus and you can actually kind of think of this as being sort of like a beach ball inside the cell, and inside the nucleus is, yup, as you might have guessed, nuclear DNA. And if you were going to look under a microscope and you could zoom in you’d actually see that it looks like a bunch of sort of stringy things, but if you were able to get in there and do a tidy you’d see that these stringy things are actually packages known as chromosomes, and we’ve got 23 pairs of those.
So sometimes the way I sort of explain this is actually, it’s a bit like having 23 bundles of wool, that your mum has given you, you know like the wool that you would use to do knitting? And to make this kind of easy in terms of separating out let’s say all the ones from your mum are one colour, so let’s say they’re, I don’t know yellow and they’re all different sizes. Now the first bundle is quite a big ball of wool and it’s known as chromosome 1. The second one is a bit smaller than chromosome 1 and it’s known as chromosome 2 and so on, and they descend in size all the way down to bundle number 22, which is really quite a small ball of wool. And the last bundle, number 23, is actually around the same size as bundle number eight and it represents one of our sex chromosomes known as the X chromosome.
So the next thing you know your dad has also given you 23 bundles of wool and to be able to tell them apart let’s give them a different colour, we’ll say that they’re green, and they’re the same sizes as the ones that your mum gave you until you get to the 23rd bundle, and this is where the bundle of wool that your dad gives you has a big effect. If your dad gives you a ball of wool for the 23rd bundle that’s the same size as the one that your mum gave you, you’re a girl, you’ve got two copies of what’s known as the X chromosome. However, if he gives you a really teeny ball of wool, then you are a boy, and that’s because even though it’s tiny, that little ball of wool represents the Y chromosome, which putting it really simply, has on it the gene for maleness, which sends the developing fetus down the path to becoming a boy.
So chromosome pair number 23 is therefore known as our sex chromosomes because the combination that you get determines your sex. So now here you are, you are sitting with 23 pairs of bundles of wool, half of each pair comes from mum, the yellow one, and the other half, the green one, comes from dad and the pairs number 1 to 22 are the same between men and women and they’re known as our autosomes.
So in the egg that your mum had, which gave rise to you, were 22 balls of yellow coloured wool, chromosome pairs 1 to 22 and there was an X chromosome. And in the sperm which fertilised the egg, which went on to become you, were the 22 bundles of green wool, the other half of each pairs of the chromosomes. And then also the bundle of wool that determines whether or not you’re a boy or a girl, whether or not the sperm has in it an X chromosome or a Y chromosome.
So you can probably already spot something, only boys have a Y chromosome and they get it from their father, who got it from their father and so on back through time. So us gals we don’t have one because it comes down through the male line only, but the important thing to remember with this is that, it can then only tell you about just one of your many lineages, that one which goes back through the male line.
Now then, there is another segment of our DNA known as mitochondrial DNA, it’s in the cell in little structures in the cell known as mitochondria, they’re outside the nucleus but still inside the cell. So they’re often described as being like the batteries for the cell because they help create the energy that the cell uses, and inside mitochondria are small circular pieces of DNA known as mitochondrial DNA, and because it’s a circular piece of DNA you can kind of think of it as like a bracelet. Now then the mitochondria and therefore the mitochondrial DNA that you get, is actually from your mum, it’s in the egg. So a mum what she does is she passes down her mitochondrial DNA to all of her children, boys and girls, but because boys have got sperm and not eggs, it’s only the daughters who can pass it down. As such looking at your mitochondrial DNA, again, will only tell you about one of your many lineages, it’s going to tell you about your maternal line only.
So here you are, you’ve got 23 pairs of bundles of wool, each pair made up of a yellow bundle from your mum and a green bundle from your dad and you’ve got a bracelet. So chromosome pairs, number 1 to 22 are the same between men and women and chromosome pair number 23 will either be two big bundles if you’re a girl and a big bundle in a little bundle if you’re a boy.
The Y chromosome can only travel down the male line, the bracelet of mitochondrial DNA, that’s given to you from your mum, can only come down through the female line and the rest of your DNA is a mixture of that that comes from both parents.