Citizen science discovery rewrites human Y-DNA tree

The following press release was received from Family Tree DNA and relates to the news announced at Who Do You Think You Are? Live in February 2013 of the citizen science discovery of the new ancient root of the human Y-chromosome tree. Family Tree DNA have announced to project administrators that the 12-marker Y-DNA test will be sold at the new permanent low price of $49 (£32) with effect from 1st April 2013. The 12-marker test is currently on sale at a special low price of $39 (£26).  FTDNA already have the world's largest Y-chromosome database with almost 250,000 samples from around the world. However, with a world population of over seven billion people there is still much to be learnt about our genetic heritage and we can expect many more exciting discoveries in the months and years to come as more people get their DNA tested.

Family Tree DNA's Genomics Research Center Facilitates Discovery of Extremely Ancient Root to the Human Y Chromosome Phylogenetic Tree

-- By Offering Low Cost DNA Test, Family Tree DNA Aims to Expand Reach of DNA Testing to Encourage Further Exciting Discoveries About Human Origins --

HOUSTON, March 26, 2013 /PRNewswire/ -- Gene By Gene, Ltd., the Houston-based genomics and genetics testing company, announced that a unique DNA sample submitted via National Geographic's Genographic Project to its genetic genealogy subsidiary, Family Tree DNA, led to the discovery that the most recent common ancestor for the Y chromosome lineage tree is potentially as old as 338,000 years. This new information indicates that the last common ancestor of all modern Y chromosomes is 70 percent older than previously thought.

The surprising findings were published in the report "An African American Paternal Lineage Adds an Extremely Ancient Root to the Human Y Chromosome Phylogenetic Tree" in The American Journal of Human Genetics earlier this month. The study was conducted by a team of top research scientists, including lead scientist Dr. Michael F. Hammer of the University of Arizona, who currently serves on Gene By Gene's advisory board, and two of the company's staff scientists, Drs. Thomas and Astrid-Maria Krahn.
The DNA sample had originally been submitted to National Geographic's Genographic Project, the world's largest "citizen science" genetic research effort with more than 500,000 public participants to date, and was later transferred to Family Tree DNA's database for genealogical research. Once in Family Tree DNA's database, long-time project administrator Bonnie Schrack noticed that the sample was very unique and advocated for further testing to be done.

"This whole discovery began, really, with a citizen scientist – someone very similar to our many customers who are interested in learning more about their family roots using one of our genealogy products," said Gene By Gene President Bennett Greenspan. "While reviewing samples in our database, she recognized that this specific sample was unique and brought it to the attention of our scientists to do further testing. The results were astounding and show the value of individuals undergoing DNA testing so that we can continue to grow our databases and discover additional critical information about human origins and evolution."

The discovery took place at Family Tree DNA's Genomic Research Center, a CLIA registered lab in Houston which has processed more than 5 million discrete DNA tests from more than 700,000 individuals and organizations, including participants in the Genographic Project. Drs. Thomas and Astrid-Maria Krahn of Family Tree DNA conducted the company's Walk-Through-Y test on the sample and during the scoring process, quickly realized the unique nature of the sample, given the vast number of mutations. Following their initial findings, Dr. Hammer and others joined to conduct a formal study, sequencing ~240 kb of the chromosome sample to identify private, derived mutations on this lineage, which has been named A00.

"Our findings indicate that the last common Y chromosome ancestor may have lived long before the first anatomically modern humans appeared in Africa about 195,000 years ago," said Dr. Michael Hammer. "Furthermore, the sample, which came from an African American man living in South Carolina, matched Y chromosome DNA of males from a very small area in western Cameroon, indicating that the lineage is extremely rare in Africa today, and its presence in the US is likely due to the Atlantic slave trade. This is a huge discovery for our field and shows the critical role direct-to-consumer DNA testing companies can play in science; this might not have been known otherwise."

Family Tree DNA recently dramatically reduced the price of its basic Y-DNA test by approximately 50%. By offering the lowest-cost DNA test available on the market today, Gene By Gene and Family Tree DNA are working to eliminate cost as a barrier to individuals introducing themselves to personal genetic and genomic research. They hope that expanding the pool of DNA samples in their database will lead to future important scientific discoveries.

About Gene By Gene, Ltd. Founded in 2000, Gene By Gene, Ltd. provides reliable DNA testing to a wide range of consumer and institutional customers through its four divisions focusing on ancestry, health, research and paternity. Gene By Gene provides DNA tests through its Family Tree DNA division, which pioneered the concept of direct-to-consumer testing in the field of genetic genealogy more than a decade ago. Gene by Gene is CLIA registered and through its clinical-health division DNA Traits offers regulated diagnostic tests. DNA DTC is the Research Use Only (RUO) division serving both direct-to-consumer and institutional clients worldwide. Gene By Gene offers AABB certified relationship tests through its paternity testing division, DNA Findings. The privately held company is headquartered in Houston, which is also home to its state-of-the-art Genomics Research Center.

AncestryDNA updates

I wrote previously of my experiences with the AncestryDNA autosomal DNA test. I covered the consent forms and the admixture analyses in my first article. In a second article I looked at the matching process. One of the big criticisms that I and many others had with regard to the AncestryDNA test was the fact that the company, unlike 23andMe and Family Tree DNA, did not allow customers access to their raw genetic data. I am now pleased to advise that Ancestry have listened to the feedback and have finally made the raw data accessible.

The data can be accessed by logging into your AncestryDNA account and clicking on "Manage Test Settings". Before downloading the data it is necessary to re-enter your password. There are notices to advise that the downloaded data is subject to the AncestryDNA Terms and Conditions and the AncestryDNA Privacy Statement. The Terms and Conditions were revised on 20th March 2013 and now include what appears to be a new section laying out the Rules of Conduct. These state among other things that "You must also agree that you will provide valid and complete contact information, and that you will always have a valid email address on file with AncestryDNA." In addition the rules include the following somewhat puzzling condition: "You must not use the information from the AncestryDNA website or DNA tests (including any downloaded raw DNA data) in whole, in part and/or in combination with any other database for any discriminatory, breach of privacy or otherwise illegal activity (for example, to re-identify any anonymous donor or to make insurance or employment decisions)."

The Rules of Conduct conclude with the following paragraph: "These Rules of Conduct are not exclusive. If we believe, in our sole discretion, that you are in breach of this Agreement, are acting inconsistently with the letter or spirit of this Agreement or otherwise interfering with the efficient management or delivery of the AncestryDNA Website, Service or Content, we may limit, suspend or terminate your access to our AncestryDNA Website. In such a case, no portion of your subscription payment will be refunded. Should we decide to suspend or terminate your access for any reason other than your actions or omissions which we believe to be inconsistent with this Agreement we will refund to you any unused portion of your payment, which will be your sole and exclusive remedy upon such a suspension."

I am not at all clear how someone can use their own genetic data in any type of illegal activity and it seems to me that it is entirely my business what I do with my own genetic data and has nothing to do with AncestryDNA at all. The requirement to maintain a valid e-mail address is of some concern as this rather suggests that any account that does not have a valid e-mail address will be excluded from the AncestryDNA database. Inevitably subscriptions will lapse over time. People become ill and are no longer able to continue their family history research or they die and their account is not passed on to a relative. Does this mean that all these results will be removed from AncestryDNA because the accounts no longer comply with the Rules of Conduct?

The AncestryDNA Privacy Statement has been similarly updated with effect from 20th March 2013. Interestingly I note that Ancestry have now signed up to the Safe Harbor program which relates to the "collection, use and retention of personal data from European Union member countries and Switzerland". Does this mean that Ancestry are gearing up to make their test available in Europe? In section 3 "How does AncestryDNA use your personal information?" there is what appears to be a new addition and by testing with Ancestry you are now giving them permission to use "your personal information" to "research human genetic diversity". From what I can gather this permission applies even if you have, like me, not signed the separate AncestryDNA Consent Form.

Having gone through the instructions on the AncestryDNA website you are sent an e-mail to confirm the download. The e-mail is reproduced below.

Having confirmed the data download you are taken back to the AncestryDNA website and taken to a page where you can download the raw data. I have provided a screenshot below.

The data is downloaded as a zip file and when the file is unzipped it opens up in Notepad. The many citizen scientists in the genetic genealogy world are currently trying to examine and make sense of the raw data. It is likely that third party websites such as Gedmatch will provide a facility to upload AncestryDNA data. Support will no doubt also be provided for the other third-party tools which are listed on the autosomal DNA tools page in the ISOGG Wiki.

Interestingly, although Ancestry do not provide information on the X-chromosome and Y-chromosome SNPs on their chip or use these results for matching purposes, the raw data is included in the download file so by downloading the data it will be possible to get more value out of the test. It is not yet known which Y-SNPs are included on the chip but this information could potentially be of great value for anyone who has taken a Y-STR test and who wishes to learn more about their deep ancestry by participating in a Y-DNA haplogroup project.

Another big announcement about the AncestryDNA testing service was made today at Roostech by Tim Sullivan, Ancestry's President and Chief Executive Officer. He advised that the the Ancestry DNA is now available at the new low price of $99 to both subscribers and non-subscribers. The test was originally offered at $99 in the beta-testing period. The price was subsequently raised to $199 for non-subscribers and $129 for subscribers. The latest reduction means that the AncestryDNA test is now the same price as the 23andMe test. However, the 23andMe test provides many additional features, including health and trait information, which are not available from Ancestry.  Tim Sullivan also announced that Ancestry have over 120,000 autosomal results in their database. He promised that improved ethnicity results and improved cousin matches are on the way but no specifics were given.

Note that the AncestryDNA test is only available to US residents. Although I live in the UK, for some reason I was able to order the AncestryDNA test during the beta-testing phase, but I am one of only a tiny handful of non-US people in their database at present. It is not yet known when or if Ancestry will make their test available in other countries. For those of us who do not live in the US there is a straightforward choice between 23andMe and FTDNA's Family Finder test. Currently the most cost-effective way to get your results in both databases is to test with 23andMe and then transfer your results to FTDNA.

Family Tree DNA's Family Finder test is now much more expensive at $289 than the comparative offerings from 23andMe and AncestryDNA. The US is the prime market for all three companies. It will, therefore, be interesting to see how FTDNA respond to the competition. At the very least, it would be very useful if FTDNA could follow Ancestry's example and allow their customers access to their raw Y-SNP data. In theory FTDNA should be able to add AncestryDNA to their third-party transfer program, but the transfer currently costs $89, which is only $10 short of the cost of the 23andMe and AncestryDNA tests. Will FTDNA reduce the cost of the transfer to encourage more people to transfer their results and to widen their database? Whatever happens the competition will be very beneficial for the genetic genealogy community and we can no doubt look forward to many exciting developments in the next few years.

*Update 23rd March 2013*
I've now transferred my raw data from AncestryDNA into a spreadsheet. The file header contains the following information:

AncestryDNA raw data download
This file was generated by AncestryDNA at: 03/22/2013 10:39:55 MDT
Data was collected using AncestryDNA array version: V1.0
Data is formatted using AncestryDNA converter version: V1.0
Below is a text version of your DNA file from Ancestry.com DNA, LLC.  THIS INFORMATION IS FOR YOUR PERSONAL USE AND IS INTENDED FOR GENEALOGICAL RESEARCH ONLY. IT IS NOT INTENDED FOR MEDICAL OR HEALTH PURPOSES. THE EXPORTED DATA IS SUBJECT TO THE AncestryDNA TERMS AND CONDITIONS, BUT PLEASE BE AWARE THAT THE DOWNLOADED DATA WILL NO LONGER BE PROTECTED BY OUR SECURITY MEASURES. 

Genetic data is provided below as five TAB delimited columns. Each line corresponds to a SNP. Column one provides the SNP identifier (rsID where possible). Columns two and three contain the chromosome and basepair position of the SNP using human reference build 37.1 coordinates. Columns four and five contain the two alleles observed at this SNP (genotype). The genotype is reported on the forward (+) strand with respect to the human reference.

My AncestryDNA raw date file contains information on 701,478 SNPs divided into 25 chromosomes. I have data for:

- 17604 SNPs on chromosome 23
- 885 SNPs on chromosome 24
- 440 SNPs on chromosome 25

We of course only have 23 pairs of chromosomes. Ann Turner has clarified on the Genealogy DNA list that chromosome 23 is the X chromosome, chromosome 24 is the Y-chromosome, and chromosome 25 "is for XY SNPs, where the SNP is also found on the pseudo-autosomal regions (PAR) at the tips of the Y". As a female I do not have a Y-chromosome and most of my results for the Y are no calls (zeros). However, I do have results reported for 93 Y-SNPs. Apparently this is something to be expected for reasons which are not yet clear to me.

CeCe Moore was one of a number of genetic genealogists who had a meeting with the AncestryDNA people at Rootstech and she has advised on the Genealogy DNA list that Ancestry are working on a search function filtered by surname or user name. She further advises that Family Tree DNA are hoping to accept AncestryDNA uploads from the beginning of May and that Gedmatch will be able to accept AncestryDNA uploads in a couple of weeks.

*Update 24th March*
AncestryDNA have now added a section on raw data downloads to their FAQs which can be read here. Ancestry seem to be overly concerned about their customers misusing their data in some unforeseen way and provide a number of cautionary warnings about using your data on third-party websites.

*Update 25th March*
For a detailed report on AncestryDNA's plans see CeCe Moore's blog post on "AncestryDNA, Raw Data and Rootstech".

© 2013 Debbie Kennett

Sense About Genealogical DNA Testing

I wrote last week about the new report from Sense About Science on the subject of Sense About Genetic Ancestry Testing. While I welcomed the publication of this report I was concerned at some of the inaccurate media coverage it generated which gave the false impression that all genetic ancestry testing is "meaningless". The report made it quite clear that DNA testing can be legitimately used for genealogical purposes, but this aspect was overlooked in some of the newspaper articles who quoted from the report out of context. I was very pleased, therefore, that Sense About Science invited me to write a guest blog post for them to help set the record straight. The post, entitled Sense About Genealogical DNA testing, is now live on the Sense About Science website. I am very grateful to all  the geneticists and genetic genealogists who provided useful feedback which resulted in a much better article than I would ever have written on my own.

Sense About Genetic Ancestry Testing

The UK press has been flooded in the last year or so with stories about a number of people, including a few celebrities, who who have had their DNA tested and who have been told extraordinary stories about their ancestry. The Guardian reported that the actor Tom Conti is directly related to Napoleon Bonaparte. The Scottish comedian Fred MacAulay was told on BBC Radio Scotland that his dad's Y-chromosome DNA "put him in south-west Ireland as part of the descent of Irish kings who were captured by Vikings and then sold in the slave market taking him up to the Hebrides". The Daily Mail revealed that a Scottish pensioner by the name of Ian Kinnaird learnt from his mitochondrial DNA test that he is "the grandfather of everyone in Britain". While the BBC and the national press have uncritically lapped up these stories and published them without question unfortunately they contain many errors and exaggerations.

As genetic genealogists we normally use DNA as a tool to help with our genealogical research. However, DNA testing can also provide some insight into one's deep ancestry. A man can take a Y-chromosome DNA test to explore his ancestry on the direct paternal line. Both men and women can take a mitochondrial DNA test to explore their ancestry on the direct maternal line. When you receive your Y-DNA or mtDNA results you are given a haplogroup assignment. The haplogroup represents your branch on the human Y-DNA or mtDNA family tree. Haplogroups are defined by markers known as SNPs (single-nucleotide polymorphisms) - small changes in the letters of the DNA alphabet. The Y-DNA tree is maintained by ISOGG - the International Society of Genetic Genealogy - and can be found here. The mitochondrial DNA tree is maintained by Mannis van Oven from the University Medical Center in Rotterdam in the Netherlands and can be found on the Phylotree website.

Haplogroups do tend to cluster in specific geographical regions and attempts can be made to explore the origins of these haplogroups by looking at their distribution and diversity in present-day populations, but there are inherent biases in the available databases, nowhere enough samples have been obtained and sometimes the conclusions drawn are highly speculative. Nevertheless many scientific papers have been published in peer-reviewed scientific journals on the origins of the different haplogroups, but with the discovery of more new markers on an almost daily basis these studies can often become out of date as soon as they are published. It can, of course, be fun to see who else shares your haplogroup. There is a page on Wikipedia which provides a list of the haplogroups of historical and famous figures, and there is also a famous DNA page on the ISOGG website. However, the markers that define these haplogroups often arose many thousands of years ago so it is therefore somewhat meaningless to declare, for example, that Tom Conti is directly related to Napoleon when they only share a common ancestor from several thousand years ago on their direct paternal line and they share that ancestor in common with thousands of other men in the same haplogroup. A DNA test cannot tell you that you are descended from a slave who was captured by the Vikings, and it is quite preposterous to tell someone that he is the ''grandfather of everyone in Britain" for many reasons not the least of which is that this ridiculous claim was based on a mitochondrial DNA test and males cannot pass on mtDNA to their children!

To counter some of these outlandish claims and to help the public to understand the issues involved the charity Sense About Science has produced a very useful new booklet entitled Sense About Genetic Ancestry Testing which can be downloaded from their website. The booklet has been written by a number of distinguished geneticists and explains very clearly the problems of assigning ancestry from a DNA test. Unfortunately some of the reports in the newspapers and online have commented on the publication of this booklet and given the story a somewhat misleading slant. The Telegraph has, for example, declared that "DNA tests [are] branded 'meaningless'" while the BBC more cautiously warns that "Some DNA ancestry services [are] akin to 'genetic astrology'".  It is important to note that these headlines apply only to certain deep ancestry tests and not to the tests that we use for our genealogical research. As the Sense About Science authors note in their report:

"There are credible ways to use the genetic data from mtDNA or Y chromosomes in individual ancestry testing, such as to supplement independent, historical studies of genealogy. If, for example, two men have identified – through historical research, possibly involving surnames – a common maleline ancestor in the sixteenth century, it would be reasonable to use their Y chromosome data to test this. There are some ancestry testing companies that offer this service."

I hope that lessons will have been learnt as a result of the Sense About Science publication and that the hyperbole of recent months will not be repeated. It is perhaps too much to hope that the press will take a more responsible attitude and will only publish stories based on scientific research published in peer-reviewed scientific journals rather than rehashing sensational stories from press releases submitted by PR companies as publicity stunts. In the meantime I would urge everyone to heed the words of Professor David Balding on the Sense About Science website: "Be wary of news items about genetic history - that someone famous is related to the Queen of Sheba or a Roman soldier.  Often these come from PR material provided by genetic testing companies and can be trivial, exaggerated or just plain wrong."

If you wish to get your DNA tested either for genealogical purposes or to explore your deep ancestry there are a range of companies to choose from. The ISOGG Wiki has many valuable resources including a number of charts comparing the offerings of the various testing companies. Whatever your reason for taking a DNA test you will get the best value for your money if you choose a company which provides a genealogical matching database where you can contact your matches and get involved in projects. The two companies that I recommend are Family Tree DNA and 23andMe. Family Tree DNA host all of my DNA projects. They offer the widest range of tests and have by far the largest genetic genealogy database. They have over 7300 surname projects, a large number of geographical projects as well as projects for all the Y-DNA and mtDNA haplogroups. The 23andMe test is essentially a health and traits test but it also provides haplogroup assignments and it includes a cousin-matching service, known as Relative Finder, based on autosomal DNA. If you are interested in the 23andMe test you can read my reviews here.

© 2013 Debbie Kennett

WDYTYA Live Day 3 Part 2: The new ancient root of the Y-tree

Sunday is always the quietest day at WDYTYA and in a lull at the end of the day I took the opportunity to listen to a fascinating talk by Dr Michael Hammer from the University of Arizona on "DNA and our ancestral origins". The talk began with an explanation of the two different models of human evolution - the Out of Africa replacement model and the multiregional model. Hammer discussed the important work of Svaante Pääbo from the Max Planck Institute who has sequenced the Neanderthal and Denisovan genomes. All non-Africans carry traces of Neanderthal DNA. Small percentages of Denisovan DNA are found today only in populations in Melanesia. I have been surprised to see that most of the people who have taken the new Geno 2.0 test from the Genographic Project have reported receiving small percentages of Denisovan DNA, despite having ancestors who lived in Europe and not Melanesia. These figures can be seen in this thread on the Genealogy DNA mailing list. I asked Michael Hammer why this should be the case, and he suggested that these results must surely be in error. It is very difficult to detect introgression and the DNA that is being assigned as Denisovan is probably ancient DNA indicative of ancient shared ancestry between humans, Denisovans and Neanderthals rather than genuine Denisovan DNA. The X-chromosome provides further insight into our ancient origins and intriguingly a haplotree constructed from part of the X-chromosome shows that the most recent common ancestor on our X-chromosome line traces back not to Africa but to Asia, and the TMRCA (time to the most recent common ancestor) is around two million years ago.

However, for genetic genealogists by far the most exciting part of Michael Hammer's talk was the story of the discovery of the new ancient root of the human Y-chromosome tree, which had first been announced to a select audience at the Family Tree DNA group administrators' conference in November 2012. The most extraordinary part of the story is that it was a citizen science discovery. An African American gentleman in South Carolina submitted a sample of his DNA to National Geographic's Genographic Project. He subsequently transferred his Y-DNA results to Family Tree DNA where he joined the haplogroup A project. Bonnie Schrack, the very astute administrator of the haplogroup A project, noticed that FTDNA had not been able to assign a haplogroup to the sample. She decided to take matters into her own hands and raised some money so that the Y-chromosome could be sequenced as part of the Walk through the Y programme run by Thomas Krahn, FTDNA's chief Y-chromosome scientist. It proved impossible to place the sequence on the Y-tree as all the SNP markers were ancestral, but there were also many new SNPs found in the sample. The challenge was then to determine precisely where the sample belonged on the tree as it fell outside the range of all known Y-chromosome lineages. Additional sequencing was done on chimps and gorillas for comparison purposes, and it was eventually determined that the sequence defined a new root of the Y-tree dating back around 338,000 years before present. The new root was given the name of haplogroup A00 leaving room for the possibility that additional divergent lineages might one day be discovered and it would then be a simple matter of adding additional zeros.

The research was published on 28th February in the American Journal of Human Genetics in an article entitled An African American Paternal Lineage Adds an Extremely Ancient Root to the Human Y Chromosome Phylogenetic Tree. The official press release from the University of Arizona can be read here. CeCe Moore, who attended the FTDNA conference, provides further details on her blog. The paper concludes with the following sentence: "Finally, the discovery of the A00 lineage demonstrates the power of public participation in the scientific process — a venture that is likely to continue in the current era of personal genomics." We have only captured a tiny fraction of the genetic diversity of the world at present. I wonder how many more exciting discoveries are waiting to be made as more people start to get their DNA tested and as more samples are tested from around the world and particularly in Africa. We can also expect many of these discoveries to be made by citizen scientists working as volunteer project administrators at commercial genetic genealogy testing companies.

There was so much going on at WDYTYA that unfortunately I did not have time to visit all the stands. I had wanted to ask Ancestry if they had any plans to launch their autosomal DNA test outside the US. Luckily David Hollister, a fellow member of the Guild of One-Name Studies, was able to have a word with them. He reported that they are not yet ready to launch their test outside the US for the following reasons:

- Complicated EEC Regulations.
- Probably not enough profit in it.
- Labs are too busy

David subsequently made further enquiries with Ancestry and was told by Karen Richardson, their Senior Manager for Community Marketing, that there is no definitive answer on the launch of the DNA test in the UK though  "there is the hope that it might be in 2014, but we can't guarantee that".

The day ended at 4.30 pm, and it was then time to pack up the stands and head home. Max Blankfeld, FTDNA's Vice President of Marketing, had two enormous bags full of DNA swabs to take back with him to Houston, Texas. The company sold a record number of kits at WDYTYA this year. These samples are now starting to be processed. I have already had two new people join my Devon DNA Project who tested at WDYTYA, and I shall look forward to receiving their results in the next couple of months.

See also
- Who Do You Think You Are? Live 2013 Days 1 and 2
- Who Do You Think You Are? Live Day 3: Alistair Moffat on how DNA is rewriting British history

© 2013 Debbie Kennett

Who Do You Think You Are? Live Day 3: Alistair Moffat on how DNA is rewriting British history

On Sunday I arrived early at Olympia and in the quiet time before the doors opened to the public I managed to call in at the stand of the History Press, who are the publishers of my two books. They told me that they had already sold all their copies of DNA and Social Networking and that they only had four copies left of my Surnames Handbook. Fortunately the Guild of One-Name Studies still had a few copies left on their stall so I hope no one was disappointed. I picked up from the History Press stand a copy of the book by John Ashdown Hill entitled The Last Days of Richard III and the Fate of His DNA: The Book that Inspired the Dig. In this book the author describes the detailed research he carried out on the family tree of Richard III in the search for a female line descendant of one of Richard's siblings who would be a candidate for mitochondrial DNA testing.

I was very pleased to see Family Historian exhibiting at WDYTYA for the first time this year. I use this excellent software for my own family history research and it has now developed a very loyal and dedicated user base. I had a brief chat with Jackie Depelle who was helping on the Family Historian stand. Jackie is a fellow member of the Guild of One-Name Studies. She teaches family history classes in Yorkshire and also teaches courses on the use of the software. Jackie told me that there had been a lot of interest in Family Historian, and that many others users had also come to the stand to say hello.

Sunday is traditionally the quietest day at WDYTYA, but my talk in the morning was again packed out with people having to stand at the back. All the volunteers on the Family Tree DNA and ISOGG stands were kept busy throughout the day explaining to people how DNA testing works and selling many more kits.

At lunchtime I attended the talk by Alistair Moffat on "How DNA is rewriting British history". The research had been heralded in a story in the Daily Telegraph on the previous Friday entitled One million Brits 'descended from Romans' with a promise that the figures behind the study would be announced by Alistair Moffat at Who Do You Think You Are? Unfortunately the talk was a big disappointment. Alistair Moffat did not use any slides and read his lecture from a script. He started with a brief explanation of the Y-chromosome and mitochondrial DNA markers which are used in deep ancestry studies. He did not say so but these markers are technically known as SNPs (pronounced "snips") which is short for single-nucleotide polymorphisms. Moffat explained that he would provide one detailed example in his lecture to explain how DNA is helping to rewrite British history and made the surprise announcement that his company BritainsDNA  (which also trades as ScotlandsDNA, IrelandsDNA, and YorkshiresDNA) has found the lost Roman legions. The historians and scientists at BritainsDNA have supposedly discovered through DNA testing that around one million men in Britain can claim to be the direct descendants in the male line of the Roman legions. Unfortunately, he failed to provide any scientific evidence to back up these extraordinary claims.

The bulk of the talk consisted of a lesson on Roman history and the Roman occupation of Britain. Moffat estimates that there were perhaps two million people living in England and Wales when the Romans invaded. He speculated that around 40,000 Roman soldiers and cavalrymen were stationed in Britain. It seems reasonable to suppose that the Y-chromosome of some of these Roman soldiers and cavalrymen has survived in the Y-chromosome DNA of living male-line descendants but proving this link is a somewhat different matter. Moffat stated that before the middle of the second century AD recruitment to the Roman army was restricted to men who were Roman citizens and who were therefore Italians or of Italian descent. He suggested that a comparison between Italian Y-chromosome DNA and British Y-chromosome DNA might show up something of the genetic legacy of the Roman legions. As Ireland was never conquered by the Romans and the south of Scotland was only occupied for a short time Roman DNA ought be present in England and Wales, absent in Ireland and should occur only at low frequencies in Scotland. As he rightly pointed out, there are many caveats to this argument. DNA often arrived in Italy from elsewhere, and of course the Roman Army did not consist entirely of Italians. He cited the example of the Sarmatian cavalry who were from what is now Romania and who were stationed at Ribchester Fort in Lancashire. (I may have misheard at this point because the Wikipedia article on the Sarmatians suggest that they are from Iran and not Romania.)

No details were given on how many DNA samples were used in the study in Britain and Italy. BritainsDNA is a commercial DNA testing company and is reliant on customers paying money to order a DNA test. It is therefore very important to ensure that the samples used are from a random selection of the population. No details were given as to how the samples were randomised to take into account biases in the customer base. The conclusion that around one million British men are descended from the lost Roman legions was based purely on the finding of five of the rarer haplogroups in the samples studied. The five haplogroups that supposedly represent the Roman legions are given below. I have used the marker names given by Moffat but have provided in square brackets the haplogroup names based on the current ISOGG Y-SNP tree and the alternative SNP names where a more familiar name is normally used as BritainsDNA has its own proprietary naming system for some SNPs.

The first haplogroup associated by Moffat with Roman ancestry is R1b-S28 [R1b-U152 or haplogroup R1b1a2a1a1b2]. According to Moffat this marker is known as the Alpine marker. It occurs at a frequency of 13% in Italy, 6.5% in England and Wales, 4.3% in Scotland and 1.8% in Ireland. At this point Moffat's evidence was somewhat contradictory as he told us that this marker almost certainly arrived in Britain around 3000 BC and that it might have been the marker of the Amesbury Archer. However, he then suggested that this marker is also a candidate for Roman ancestry because of its high frequency in Italy, its presence in England and Wales and its lower frequency or complete absence in areas that were not occupied by the Romans or only briefly occupied. He did not explain how it was possible to differentiate between indigeneous U152 and U152 supposedly brought to England by the Romans. Nevertheless, extrapolating from figures from the 2011 census, he went on to estimate that 1.6 million British men are U152/S28. I missed the next point but there was an additional calculation which substantially reduced the original estimate to produce the claim that half a million men in England and Wales are descended from Roman soldiers simply because they are U152/S28.

Moffat went on to claim that four additional Y-chromosome DNA markers arrived with the Romans. These are:

1) E-V13 [haplogroup E1b1b1a1b - known by BritainsDNA as the "Balkan group"]

2) G-S314 [G-M201 is haplogroup G and is known by BritainsDNA as "Ancient Caucasian"]

3) J-M172 [haplogroup J2 known by BritainsDNA as the "Herdsman Farmers"]. Moffat claimed that a subgroup of J-M172, known as J-M67 [haplogroup J2a1b] is particularly Italian.

4) R1b-M269* [this group is known by BritainsDNA as the "Anatolian group". The asterisk normally denotes that someone has tested negative for all downstream M269 markers. There are now numerous R1b subclades but the full list of markers tested by BritainsDNA is not known.]

These four haplogroups are supposed to add another 2.3 million Englishmen and Welshmen who can trace their Y-chromosome lines to the Romans. For some reason which I did not understand Moffat than took other factors into account and reduced the numbers to produce a total of one million English and Welsh men in his study who supposedly have Roman ancestry, corresponding with the headline figure cited in the Daily Telegraph article. Unfortunately no explanation was given as to why these four haplogroups in particular should be associated with Roman ancestry.  All the base haplogroups are very widespread and it's only when you drill right down to the more recent subclades that you start to see more refined geographical distributions. Haplogroup G, for example, is found throughout Europe but is also found in parts of Asia and Africa. The haplogroup G project at Family Tree DNA has a huge collection of around 3000 haplogroup G samples from all over the world which have been placed in sub-groups based on advanced SNP testing. Some of these subgroups have only been found in specific countries or regions such as Spain, Turkey or the Middle East, but the numbers tested within each subgroup are still relatively small and it is far too early to draw any conclusions. Numerous scientific papers have been written on haplogroup G and its subclades, often coming to very different conclusions. Many of these scientific papers are linked in the haplogroup G article on Wikipedia. Without doing additional SNP testing to define the subclades and without the aid of Y-STR markers to predict the subclade it would seem impossible to conclude that the presence of haplogroup G on its own is a sign of Roman ancestry. Even then, other evidence would need to be taken into account such as the archaeological evidence and ancient DNA analysis. Furthermore, present-day Italians belong to a wide variety of haplogroups, most of which are also found in the British Isles. A quick glance at the results of the large Italy DNA Project at Family Tree DNA gives a rough idea of the present-day haplogroup distribution in Italy. No reason was given as to why a few haplogroups were selected seemingly at random from the wide range of haplogroups found in Italy today to represent Roman ancestry.

After the announcement of the five markers that are supposedly associated with the lost Roman legions there then followed a brief discussion about a new marker by the name of R1b-S190 [haplogroup R1b1a2a1a1b3a7d1] which was discovered by Dr Jim Wilson in 2012. This marker is apparently found in about 1% of Scottish men and is particularly prevalent in just a few parts of Scotland. It is also found at low frequencies in Ireland. According to Moffat this marker is associated with descent from the Maeatae, though this claim was based purely on the evidence of the present-day distribution in Scotland in an undisclosed number of samples.

DNA testing is a very effective tool for family history when used in conjunction with the traditional documentary research. However, at the deep ancestry level there are inherent problems in associating particular types of DNA with Roman legions, the Vikings, the Celts, the Normans, the Maeatae or any other ethnic group. The problems are well described in an excellent article  "To claim someone has 'Viking ancestors' is no better than astrology" written by Mark Thomas, Professor of Evolutionary Genetics at University College London, for The Guardian. As Professor Thomas notes, it is important that scientific research is published in peer-reviewed scientific journals. The system is not perfect but it does at least ensure that basic standards are followed and it lends a degree of credibility to the research. The Sense About Science website has a very useful new booklet entitled Peer Review Matters to the Public, which explains why the peer review process is so important, and I recommend that anyone wishing to know more about the subject should read this booklet.

Unfortunately in the case of this Roman research it appears that it is not to be published in a scientific journal but will instead bypass the usual peer review process and will be published in a new book written by Alistair Moffat and his business partner Dr James Wilson entitled The British: A Genetic Journey which is due out in September. It therefore looks as though we will have to wait for publication of the book to find out more about the sampling process and how these conclusions have been reached.

The next lecture I attended on Sunday was a fascinating talk by Dr Michael Hammer on "DNA and our ancestral origins" which included news on an amazing citizen science discovery. Michael Hammer is the Associate Professor and Research Scientist at the Hammer Lab at the University of Arizona and Family Tree DNA's Chief Scientist.  I shall write about his lecture in my next blog post.

Further information
For details on the Y-chromosome DNA tests offered by the various DNA testing companies see the Y-DNA testing comparison chart in the ISOGG Wiki. Note that for genealogical matching purposes it is necessary to order from a company which tests Y-STR markers. Y-SNP markers can only be used for deep ancestry purposes.

See also
- Who Do You Think You Are? Live 2013 Days 1 and 2
- Who Do You  Think You Are? Live Day 3 Part 2: The new ancient root of the Y-tree

© 2013 Debbie Kennett

Who Do You Think You Are? Live 2013 Days 1 and 2

Who Do You Think You Are? Live, the large family history show held every year over three days at Olympia in London, is now firmly established as the most important event in the genealogical calendar in the UK. I have been to all the shows except for the very first one in 2007 and it has been interesting to see how WDYTYA has evolved over the years. One of the biggest changes has been the increase in the number of overseas visitors, and many of these overseas visitors have come to WDYTYA because of a growing interest in DNA testing. The DNA workshop, sponsored by Family Tree DNA, has been a regular feature of WDYTYA since 2009. A number of dedicated volunteer FTDNA project administrators in America have paid their own air fares and hotel accommodation to attend WDYTYA each year to help out on the Family Tree DNA stand and to educate the British public about DNA testing. ISOGG - the International Society of Genetic Genealogy - has had a presence at WDYTYA since 2010 thanks to the initiative of Brian Swann, the Regional Co-ordinator for England and Wales. The ISOGG stand is manned by volunteers from both England and America, and I have been involved with the ISOGG stand from the beginning.

This year we had a record number of DNA visitors from overseas. I was very pleased to be reunited again with my DNA friends from America: Emily Aulicino, Katherine Borges, Candy Campise, Linda Magellan, Derrell Oakley Teat, Craig Trout, George Valko and Cynthia Wells, all of whom very kindly gave up their free time to help to promote DNA testing by helping out on the ISOGG and FTDNA stands. This year I was delighted to make the acquaintance of five new DNA visitors from the US: Dick Kenyon, Charles Moore, Nora Probasco, Barbara Rae-Venter and Jennifer Zinck. I was particularly honoured to have the opportunity to get to know Charles Moore, who is held in high regard in the world of genetic genealogy. Charles is one of the content experts for the ISOGG Y-SNP tree and is renowned for his work on the haplogroup R1b-U106 project. U106 is the subclade to which my dad belongs, so Charles's work is of particular interest to me. Charles is a wizard with spreadsheets and has the ability to spot patterns in Y-STR markers in order to predict the most downstream subclade. Project members can then order individual SNPs à la carte from Family Tree DNA rather than ordering a more expensive Geno 2.0 test. ISOGG in England was represented by project administrators John and Ann Blair, Sue Curd, Maurice Gleeson and Brian Swann. Chris Pomery, Family Tree DNA's representative in England, was also attending the show and helping out on the FTDNA stand.

I managed to have a very quick chat with Gail Riddell from New Zealand, who runs the New Zealand DNA Project, and project administrator Susan Hedeen from America. I briefly said hello to Carolyn Dyess Bales, one of my friends in the US from the Guild of One-Name Studies, who was attending WDYTYA with her cousin Cammie Dyess Mercer. This was her first trip outside the US, and she had to buy a passport especially for the trip! Another Guild member, Elizabeth Kipp from Canada, was attending with her husband Ed, but in the rush I never managed to meet up with her.

DNA testing has been very much in the news in the last few weeks with the worldwide publicity generated by Richard III. Most conveniently the BBC put out a two-part documentary entitled Meet the Izzards on the Wednesday and Thursday before WDYTYA in which the comedian Eddie Izzard traced the migration of his ancestors out of Africa and into Europe. The combination of Richard III and Meet the Izzards generated a huge amount of interest in DNA testing at this year's WDYTYA and we were all rushed off our feet for the entire three days. Family Tree DNA brought more than double the usual number of kits and sold a record number of tests this year. Some of the tests were on sale at a special show price. The 12-marker Y-DNA test was on sale for just £30. The headline price helped to draw in lots of visitors to the stand but most people chose to opt instead for the 37-marker test at the special show price of £85, though I understand that quite a few 12-marker kits were sold on the Sunday. I would have liked to have taken some photos of the ISOGG and FTDNA stands with all the crowds but I was busy non-stop throughout the show and hardly had the chance to take any photos. I only had a break when I sat down to listen to some of the talks. The FTDNA stand had two large tables with five chairs arranged in front of the stand where people could sit down, place their orders and get swabbed. Those five chairs were occupied almost continuously throughout the three days. There were still people turning up to be tested after the show had officially ended each day. Nora Probasco and I were operating a triage system by talking to the people who were waiting and making sure they understood what the tests were all about and establishing whether or not they wished to place an order. This meant that by the time they got to sit down at the tables they were ready to be swabbed. At some times it got so busy that people had to be taken to the nearby cafe area to place their orders and get the swabbing done.

Max Blankfeld, Family Tree DNA's Vice President of Marketing and Operations, was on his own this year as Bennett Greenspan, the President and CEO of FTDNA, was unable to attend. Max was very grateful for the assistance from all the volunteer project administrators who helped out on the stand. It would have been impossible for FTDNA to attend the show without the help of all the many volunteers who so freely gave of their time.

I was presenting a talk in the DNA workshop at WDYTYA this year for the first time. The subject of my presentation was "DNA for beginners: the different tests". All the seats were taken for my talk on each of the three days and there were people standing four or five deep at the back of the workshop area trying to listen in.

I understand FTDNA had a surge in sales after my talk so I must have been doing something right! I had some very nice positive feedback from one of my Twitter followers Maggie who had attended my talk and then wrote up her experiences in a blog post. I was very pleased to learn that mine was the "most illuminating" of all the presentations she had attended. Most of the talks on Friday and Saturday were similarly packed out with people having to stand at the back, but Sunday was much quieter.

On Friday night the DNA project administrators got together for an enjoyable meal at Pizza Express.

On Saturday I arrived extra early, taking full advantage of my ISOGG exhibitor's pass which allowed me to get into Olympia before the doors opened to the public, to ensure that I got a ticket for Turi King's talk on Richard III. I was not disappointed. She gave a very interesting and entertaining talk. The original aim of the project was to locate the church of the Greyfriars. No one had ever expected to find Richard III and Richard Buckley, the lead archaeologist from the University of Leicester, had famously promised to eat his hat if Richard III were found. The team held him to his word but fortunately for him had a special hat-shaped cake made up specially for him to eat! Turi King explained the painstaking process of testing ancient DNA specimens. The samples have to be tested independently in two separate labs. She did some of the ancient DNA testing in the lab of Professor Michael Hofreiter at the University of York. She then replicated the tests in the lab of Patricia Balaresque at the Université Paul Sabatier in Toulouse. This of course meant a trip across the Channel and Turi described how she had to negotiate customs with Richard III's tooth, terrified that customs would want to open up the package for inspection, thus contaminating the sample and making the whole process worthless. The return journey was even more nail-biting as in order to extract the DNA the tooth had to be ground down into a fine white powder which was guaranteed to raise alarm bells with customs officers! Fortunately she got through customs unscathed, helped by official letters from the University of Leicester. The results of the ancient DNA analysis were only received on the weekend before the press conference. Turi described the moment that the results came through and she saw that there was a match. She went silent for a minute and then did a little dance around the lab!

The ancient DNA analysis will now continue. The next step will be to see if it is possible to extract some Y-chromosome DNA from the remains to compare against the Y-DNA samples obtained from living descendants of Henry Somerset, the 5th Duke of Beaufort, who should share the same Y-DNA signature as Richard III. Turi King is not able to release the details of the Y-chromosome haplogroup of the Beaufort lineage at present. The University has an agreement with Nature and it is planned to publish two papers back to back. Full details of the DNA analysis and the haplogroups will then be given. According to the terms of the agreement the papers have to be submitted to Nature within the next year, though they will of course still have to go through the usual peer-review process.

After Turi King's talk I rushed back to the DNA area to catch the presentation by Bruce Winney on the People of the British Isles Project. The project has now collected 4,300 samples from people in the British Isles with four grandparents born in the same rural county. The researchers have genotyped 2,800 of these samples across 600,000 SNP markers. Strong regional variations have been found with, for example, the people of Devon and Cornwall, forming distinct clusters.  The samples have also been compared with samples from Europe in order to identify the source of the structure seen in the UK.

A scientific paper is in preparation which will be submitted to Nature,  but it will still be a few more months before the paper is ready to be submitted. Once the paper has been published everyone will have the opportunity to examine the stunning maps that were shown to us at Olympia. Little progress seems to have been made on the analysis of the Y-chromosome and mitochondrial DNA data. I also asked about the X-chromosome data but no one has as yet considered analysing that data.

On Saturday I was briefly able to say hello to my friend Princess Maria Sviatopolk-Mirski though she unfortunately arrived at the stand during one of our busiest spells. I was also very pleased to have the opportunity to meet Andrew Millard, a friend from the Guild of One-Name Studies. I had a brief chat with Andy Grierson from Sheffield University, one of the citizen scientists who published an important paper on the phylogeny of haplogroup R1b1a2 based on detailed analysis of public datasets such as the 1000 Genomes Project. He is now working on another interesting collaborative project which will no doubt be the subject of a new paper in due course.

On Saturday night I attended the dinner at Pizza Express organised by the Association of Professional Genealogists. It was good to catch up again with Rosemary Morgan. I was finally able to meet Kirsty Wilkinson who I had known for some time on Twitter but had never actually met face to face. I also briefly chatted with Bruce Durie who I had met over twenty years ago in another life at a pharmaceutical conference in Montreux in Switzerland. By an extraordinary twist of fate we now both share the same publisher in the form of the History Press. Then it was time for the long train ride home and a few snatched hours of sleep before another long day at Olympia on Sunday.

See also
- Who Do You Think You Are? Live Day 3: Alistair Moffat on how DNA is rewriting British history
- Who Do You Think You Are? Live Day 3 Part 2: The new ancient root of the Y-tree

© 2013 Debbie Kennett