Haplogroup U4 project

I wrote back on 7th June 2008 about my mitochondrial DNA (mtDNA) test and my rare U4 haplogroup. At that time I joined the mtDNA haplogroup U4 project at Family Tree DNA, but the project was very quiet and I received no communications from the group administrator. It therefore came as no surprise when the admin announced at the end of August that he was stepping down. William Allen, who runs the new U4 blog, has taken over as the group admin, and I offered to help out as a co-administrator. We are joined by Ron Scott, who is an expert on mtDNA and has done a considerable amount of work on the phylogeny (the family tree) of haplogroup U4 and all its subclades. Inevitably the project took up far more time than I originally envisaged, and I have been somewhat preoccupied in recent weeks, hence the lack of postings to this blog. I spent a lot of time updating the U4 project website, and have been busy recruiting new participants from Mitosearch, the public mtDNA database. My efforts were rewarded by a considerable boost in membership from 160 participants when we took over the project on 25th August to 280 as of today's date. The project is continuing to grow at a steady rate. If you have had your mtDNA tested either by Family Tree DNA or the Genographic Project and you belong to haplogroup U4 then I do hope you will join our project. It is free to join, and no further tests are required.

Mitochondrial DNA has always been somewhat neglected by family history researchers, largely because fewer mutations occur and, with the standard HVR1 and HVR2 mtDNA tests, people can often have large numbers of matches, the majority of which will be of no genealogical significance. In 2005 Family Tree DNA introduced a full-genomic sequence (FGS) test, which can refine matches in a genealogical time frame, but the test has always been very expensive, and beyond the reach of the average researcher. However, earlier this month Family Tree DNA announced a special promotion for their existing customers with the offer of a substantial reduction in the cost of the FGS test.

Dear Family Tree DNA customer

I am pleased to make a very special announcement about our Full Mitochondria Sequence test.

As you know, this test has continually dropped in price from its initial introduction at $895 in 2005. These price decreases were related to volume and workflow, translating productivity into economies of scale that allowed us to reduce prices to those customers interested in testing their full mitochondrial sequence.

Now Family Tree DNA is doing it again, but this time we are going to take advantage of new technology that will allow us to run more samples in less time, and the savings are substantial. We expect that this price decrease will hearken a new era of Full Mitochondria Testing for the entire Genealogical community!

We will jumpstart this new era of complete mtDNA testing with an aggressive price in order to build the comparative database to the levels genetic genealogists require to answer precise ancestral and geographic questions.

So now on to the news that you've been waiting for. A new price for the mtFull Sequence test will be introduced in November but until then we are offering our current customers a promotional price through October 31st, 2009...

Depending upon the time that it takes to process these upgrade orders using our new hardware, we may experience a back order or lag time in November. If this occurs we expect to resolve the backlog in December.

The promotional prices for existing Family Tree DNA customers are:

- US $229 (was $439) for first time mtDNA test takers
- US $179 for those who have already tested HVR1 and HVR2
- US $199 for those who have already tested HVR1

The new price from November has not yet been announced but will no doubt represent a considerable saving on the current project price of $439, and will finally make the FGS test an affordable option for anyone wishing to use modern DNA techniques to aid research into their direct maternal line. Family Tree DNA are currently the only company to offer the full-sequence test. No doubt other companies will follow in due course, and the FGS test will eventually become the standard test for matriline researchers. It will however take time for the database to reach critical mass. Nevertheless, despite the fact that the test was previously so expensive, Family Tree DNA already have a considerable advantage over their competitors with 6,180 full-sequence tests in their database. We have had a large number of upgrade orders in the U4 project, and I have also ordered the upgrade for myself. No doubt other projects will have seen similar sales volumes. It can only be a matter of time before the FGS database grows to a sufficient size to answer some of our genealogical questions.

My mtDNA results

I've now received my mitochondrial DNA (mtDNA) test results from Family Tree DNA. Somewhat surprisingly my maternal line belongs to haplogroup U4, a small Indo-European haplogroup which seems to be quite rare. The haplogroup is found in only 1.63% of the population of England and Wales. The highest frequencies of U4 are found in southern Siberia, and it is also found in Eastern Europe, the Urals, in some German-speaking populations and in a few lineages in India.

Brian Sykes gives names to the seven main European mitochondrial haplogroups in his book The Seven Daughters of Eve. All the women in Europe can supposedly trace their genetic ancestry back to one of these seven women. Haplogroup U4 is not one of Sykes's original clan mothers but is a sub-clade or sub-branch of haplogroup U, otherwise known as Ursula. "Ursula" lived around 45,000 years ago. "Ulrike" is of more recent origin and lived around 18,000 years ago. Sykes describes Ulrike thus: thus:

The clan of Ulrike (German for Mistress of All) is not among the original "Seven Daughters of Eve" clans, but with just under 2% of Europeans among its members, it has a claim to being included among the numerically important clans. Ulrike lived about 18,000 years ago in the cold refuges of the Ukraine at the northern limits of human habitation. Though Ulrike's descendants are nowhere common, the clan is found today mainly in the east and north of Europe with particularly high concentrations in Scandinavia and the Baltic states.

I have so far been able to trace my direct maternal line back to Mary Ann Butler, the daughter of James Butler, a labourer. Mary Ann was born in Purton, Wiltshire, in around 1815. She married Moses Ball in 1842 in Walcot, Somerset. Moses and Mary Ann had six children who were born in Sherston, Wiltshire, and Westonbirt, Gloucestershire. My maternal line continues with their daughter Hannah Ball, who moved to London and married William Saunders, a coachman and stage coach driver, on 16th June 1872 at the Parish Church of St Marks in North Audley Street. The other names in the later generations of my maternal line are Tidbury, Rattey and of course Cruwys.

Mutations occur much less frequently in mitochondrial DNA and the tests are therefore not so useful as the Y-DNA test which we are using for the Cruwys DNA Project. Most people who take the mtDNA test have large numbers of matches in the various databases. Not surprisingly, with my rare U4 haplotype, I do not have a single match in the Family Tree DNA database. I have also uploaded my results to Mitosearch, the public mtDNA database sponsored by Family Tree DNA, but again I do not have any matches. It is also possible to search the Mitosearch database by haplogroup. There are only 472 people in the whole world with my haplogroup in the database at present.

I regard the mtDNA test as an investment for the future. My grandmother was an only child and my great-grandmother was the only daughter in her family. My sister and I have both had sons so our direct maternal line is now at an end. Sons do of course inherit mtDNA from their mother but they cannot pass it on to the next generation. My mtDNA results will have more value as more people in the UK get tested and once I start to make further progress with my research into my maternal line in Wiltshire. With a rare haplogroup it should also be much easier to verify my maternal line.