Research and Development
ScotlandsDNA have research at the core of their philosophy and a significant percentage of our resources are dedicated to this area. Our scientists have developed an extensive R&D programme designed to further our understanding of human history and in turn, to develop exciting new products to allow our customers to learn more about their DNA.
There are a number of strands to the research, but much of the work focuses on realising the full potential of the Y chromosome as a genetic marker system. The Y chromosome is the single largest piece of DNA inherited as a block and studies have shown that there is about one new genetic variant per generation on the Y chromosome. This means that complete Y chromosome sequences should, in theory, allow us to reconstruct a family tree of all men on earth, which is accurate to a couple of generations! In reality it is not simple to read all the letters of the Y chromosome; however a very refined tree can be built. Early Y chromosome trees included only very few markers which restricted the accuracy of historical interpretation. As we improve resolution, the potential for improved interpretation increases too.
By reading the complete sequence of a number of carefully chosen Y chromosomes we (and others) are finding lots and lots of new markers, some of which are rather recent, or specific to a particular surname such as MacGregor or very concentrated in one place, e.g. Perthshire. As discussed above, genetic ancestry research is held back by a lack of markers: we can never have enough! Hence, ScotlandsDNA is investing heavily in finding new, high quality markers which are informative about Scottish ancestry and deliver value for our customers.
Once a marker has been discovered the next stage is to try to understand what it means. First we work out how it relates to other markers and place it on the tree, then we study where it is found, estimate how old it is, and infer as best we can, where it originated and dispersed to. The first step is to genotype the marker in large collections of known heritage – people who know where their ancestors come from. Our R&D programme is therefore screening new markers we have discovered and those found in the 1000 Genomes project in a large sample of continental Europeans as well as British and Irish people.
Some of our work focuses on lineages of great interest, such as the Royal Houses of Stewart, Bruce and Plantagenet as well as the chiefly lines of Clans MacGregor, Sinclair, Hamilton and MacDonald. One example is our project to sequence the whole Y chromosome of the Duke of Buccleuch who, being the 10 greats-grandson in the male line of King Charles II of England, Scotland and Ireland, carries the Royal Stewart Y chromosome. The very recent (in terms of age) markers we discover will help to define the different cadet branches of the Stewart family, to separate Stewart of Darnley from Stewart of Appin for instance. Older markers will enable us to learn more about the ancient ancestry of the Stewarts in Brittany. For example, we will investigate whether the High Steward of Scotland’s ancestors originally escaped from SW Britain as the Anglo-Saxons marched westward.
ScotlandsDNA is developing new tests to analyse a person’s overall ancestry, using many autosomal markers, rather than being focused on one ancestral lineage. This is important as of course the Y chromosome and mtDNA only provide one part of the picture. As well as summary tests, we are investigating approaches which can identify segments of DNA with exotic ancestry. We are also developing more refined tests of relatedness in any ancestral line out to about seventh cousins.
There are many opportunities at the interface of genetics and genealogy. ScotlandsDNA is therefore widely engaged in genealogical research to both trace back ancestral lines of interest and trace forward descendant lineages from known historical figures, in order to enrich our understanding of particular histories.
Dissemination and collaboration.
ScotlandsDNA is open to collaborations from academic partners and is committed to publishing relevant research in the academic peer-reviewed literature. Public understanding of science activities include public talks and educational videos on our website.
All this activity means that customer interpretations will be updated from time to time on the basis of our ongoing research and that reported in the published literature. As we learn more as a community, we will work to communicate this to our customers. As databases grow in size and coverage, as more markers are found, and as new statistical approaches are introduced, we will be able to deliver more certainty in existing interpretations and in time add new discoveries.