Thoughts in understanding ancestry DNA

Above image.  My Global 10 Genetic Map coordinates:  PC1,PC2,PC3,PC4,PC5,PC6,PC7,PC8,PC9,PC10 ,0.019,0.0272,0.0002,-0.0275,-0.0055,0.0242,0.0241,-0.0033,-0.0029,0.0015.  The cross marks my position on a genetic map by David Wesolowski, of the Eurogenes Blog

The above map shows genetic distances between different human populations around the planet.  Look how tightly the Europeans cluster.  Razib Kahn recently blogged on just this subject.  The fact of the matter is that the greatest diversity exists between populations outside of Europe, particularly within Africa, and between African and non-African populations.  However, we obsess over tiny differences within European populations, when in truth, most Western Eurasians are very closely related.  We share ancient ancestry from slightly varied mixes of only three base ancestral groups, with the last layer arriving only 4,300 years ago.  This obsession in the Market drives DNA to the consumer businesses to largely ignore non-European diversity, and to focus too closely on differences that blur into each other.

The above image is from CARTA lecture. 2016. Johannes Krause of the Max Planck Institute. It shows the currently three known founder populations of Europeans and their average percentages.

However, at the same time the new Living DNA service seeks to zoom in closer on British populations, attempting to detect ancestry percentages from such tiny zones as "East Anglia".  They appear to be having a level of success with it as well, although that blurriness, that overlap and closeness of populations in Europe gives problems.  Germans are given false percentages of British, Some Scottish appear as Northern Irish, and the Irish dilute into false British areas.  However, I've seen enough results now to suggest that it is far from genetic astrology.  They get it correct to a certain level, particularly for us with English ancestry.  Ancestry DNA customers expect perfection.  I don't think that we will ever get that from such closely related populations at this resolution, but it does provide a new genealogical tool that can point us into some revealing directions.

Above image.  My Living DNA Map.  Based on my recorded genealogy, I estimate 77% to 85% East Anglian ancestry over the past 250 years or so.  Living DNA at Standard Mode gave me 39%.  I'm impressed by that.  That a DNA test can recognise even at a 50% success, my recent ancestry in such a tiny zone of the planet.  I have doubts though that this sort of test will ever be free of errors, and mistakes.  The safest DNA test for ancestry is still one that is based on more distinct populations, and outside of Africa, that can be as wide as "European".  23andMe for example in their "Standard Mode" (75% confidence), assign me 97.3% European, and 0.3% Unassigned.  That is a pretty safe result.

Autosomal DNA tests for ancestry, particularly for West Eurasian (European and Western Asia) descendants, are not reliable at high resolution.  If you want to get really local, then sure - do it.  However, only use the results as an indication, not as a truth.  Populations in Western Eurasia are closely related, and share recent common descent.  There has been a high degree of mobility and admixture ever since.  Some modern populations tested do not have a high level of deep rooted local ancestry in that region.  They overlap with each other.  Keep researching and meander through different perspectives of what your older pre-recorded ancestry could have been.

Above image by Anthrogenica board member Tolan.  Based on 23andMe AC results.  My results skew away from British, and towards North French.  He generated this map, plotting myself (marked as Norfolk in red), and my Normand Ancestral DNA twin Helge in yellow.  My results fall in the overlap with French.  Helge is Normand but in AC appears more British than myself.  I am East Anglian yet in this test appear more French than he does.



Medieval Mobility, DNA tests, and the East Anglian

Two men threshing sheaf - Luttrell Psalter c1325-1335 f74v - BL Add MS 42130

Two men threshing sheaf - Luttrell Psalter (c.1325-1335), f.74v  See page for author [CC0], via Wikimedia Commons.  Originally published/produced in England [East Anglia].

My last post on the Norfolk 16th century surname study has made me look at my medieval East Anglian roots a little differently.  It suggests that there may have been a fair amount of mobility and migration in East Anglia, and from outside, from both Northern England, and from the nearby Continent.  Although current commercial autosomal DNA tests for ancestry are clearly contradictory, behind them lays a common pattern.  My auDNA is little bit more similar to people living on the Continent, in places like France, Belgium, Netherlands, Germany, Denmark, and also further to the south - than it is for most British testers.  This is despite my known English family history and recorded ancestry.  These commercial DNA tests usually claim to investigate your family ancestry over the past 250 - 500 years only.  I'm convinced that is untrue.  I can't help but see population background, and shared patterns from testers that have no known, or little known migration or admixture in places such as England, and Northern France.  These appear to represent older migration and population admixture events that are shared across local genomes.

However, maybe there is something that these tests are telling me - but only after taking into account to the results of other British testers.  I now believe that I may have underestimated mobility around East Anglia and England between the fourteenth and seventeenth centuries - that precedes any of my recorded ancestry.  I also feel the need to reassess Continental migration to East Anglia.  It appears it was not all urban or bourgeois.  The Anglo-Saxon fifth century AD may have marked the most significant migration event to south east Britain, but I know believe that I have underestimated how much migration and exchange has occurred across the North Sea ever since.

Focusing first on movements within East Anglia, and England, I have in my last post,  Norfolk surnames in the sixteenth century, provided locative surname evidence.

Let's look at some more historical research.

"Considerable personal mobility existed from the later Middle Ages.  From the mid fourteenth century the loosening of seigneurial bonds allowed English people to become even more mobile.  Landlords complained that tenants were deserting their holdings for better land elsewhere and that servants and labourers were seeking higher wages from other employers.".

"From the sixteenth century, migration and personal mobility becomes better documented.  A study of tax records for Towcester in Northamptonshire showed a considerable turnover of the population between consecutive years.  In 1525 47 of the 278 men taxed in the previous year had left.  This unusually full source shows that six of the 47 had died and 41 had migrated.  This represents a turnover rate of 16.9 per cent a year - higher than any other communities in pre-industrial England.".

The continuity (and discontinuity) of surnames over a period of time indicates the movement of individuals and families with the same surname in and out of the community.  The small 'close' village of Glynde (population 216 in the 1801 census) lies three miles from the East Sussex county town of Lewes.  Between 1558 and 1812 out of 444 different surnames that appeared in the parish register (excluding people whose only connection with the village was to marry in its church) 261 surnames (58.8 per cent) occurred only once and 71 per cent were found only during a period of 25 years or less.".

Source: The English Rural Community: Image and Analysis. Brian short. 1992.

So, maybe I need to discard ideas of my mother's tight cluster of recorded ancestry as having been so localised for so long.  Although, the density of the cluster does suggest that she probably have some direct ancestry in the Reedham area of East Norfolk for a very long time, perhaps back to the early medieval, there is also a good probability that her medieval ancestry stretched much further across the region, England, and to the Continent.  Indeed, her known ancestral proximity to the coast and a tidal navigable river makes that Continental ancestry more likely.  For my father's ancestry - the majority recorded East Anglian, but with known ancestry going back to Oxfordshire, Berkshire, London, and the East Midlands, this might be even more the case.

Celebrating my Steppe and Beaker Ancestors

Ecoregion PA0814

The Pontic Steppes, by Terpsichores [CC BY-SA 3.0], via Wikimedia Commons

I've previously dealt with my Ice Age hunter-gatherer ancestry, as indicated by DNA test result calculators, and with my Neolithic Farmer ancestry.  That leaves the third major late prehistoric contributor to the Western European Genome.  The most recent, and perhaps the most character defining - the Chalcolithic Steppe pastoralists or Yamnaya element.

My Yamnaya ancestors

Y-DNA haplogroup enthusiasts of European descent absolutely LOVE this one.  This is because the majority of men of Europe have a Y haplogroup that arrived here from the Eurasian Steppes with this immigration wave.  All of those R1a's and R1b's.  My personal Y haplogroup didn't!  But I'm a nonconformist with a nonconforming Y-DNA haplogroup. Populations such as the modern Irish men, on the western edge of Europe, can trace most of their R1b haplogroups to the Steppes!  That some of of the earlier hunter-gatherer and Neolithic DNA here earlier still survives in most of us, suggests that this long migration consisted mainly of men.  My mtDNA haplogroup though, as usual, is atypical - because H6a1 is one of the few maternal lineages in Europe that DOES also trace back in ancient DNA samples to the Yamnaya pastoralists.  So, I DO have a Steppe haplogroup, only through my motherline.

The Eurasian Steppes have been a super highway of people, goods, culture, and genes, for thousands of years - linking Asia to Europe.  A long, sometimes narrow corridor of natural grasslands.  The wild ancestors of the domestic horse lived there.  They had adapted to life in harsh environments such as this.

The Yamnaya themselves appear to have been admixed between different earlier Ice Age populations, including Caucasus Hunter-Foragers, East European Hunter-Gatherers, and the enigmatic Ancient North Eurasian Siberian ghost population, that were also among the ancestors of Native Americans.

One of the successes of the Steppe pastoralists, was that they embraced the horse.  They rode their horses, enabling them to control larger herds of sheep, goats, horses, and cattle.  That was one element of success.  They also utilised the wheel, and built the first wagons and carts to be pulled by those horses and ox.  This gave them a greater mobility, to move their livestock seasonally to further pastures.  Biologically they were also adapting to a dairy based diet with lactose tolerance.  Finally, they embraced the new metallurgy of copper, and then bronze working.  The raw materials of this new technology shifted along the Steppes, and through their contact with many peoples, including with the new towns and kingdoms south of the Caucasus.

Another factor that needs to be considered, is that according to some scholars, they brought the Indo-European group of languages to Europe, which are ancestral to most European languages today.

Recent evidence has been produced that suggests that some of the pastoralists carried a plague virus, transmitted from a Central Asian origin.  A new hypothesis is that they may have unintentionally passed this plague onto the Neolithic Europeans, weakening their populations and societies.

Whether this hypothesis ever substantiates or not, the archaeological and genetic evidence is that the Second Millennium BC saw many of these Steppe men (and my mtDNA ancestor) spill westwards into Copper Age Europe.  After 2,900 BC, their arrival, and fusion with local populations and traditions may have inspired the Corded Ware Culture of Central and Eastern Europe.  My mtDNA haplogroup H6a1a suddenly appears in Central Europe, associated with this culture.

These horsemen of bronze, or their descendants didn't stop the Westward advance.  Within a few hundred years, they also dominated Western Europe.  There, their arrival may have spawned another fusion culture - the Bell Beaker.

Above image, bell beaker burial exhibited in the British Museum.

My Bell Beaker Ancestors

The Maritime Bell Beaker Culture may have originated when these horsemen arrived in Iberia.  When I was a keen amateur archaeologist and field walker, I'd feel a lot of contact with them.  Many, if not the majority of the struck flints that I recorded in Thetford Forest were considered "bronze age".  I would also survey the surviving round barrows in the forest, and look for unrecorded examples.  I also spent a week with Suffolk archaeology, studying new aerial reconnaissance photographs, and helping to chart the soil and crop marks of long ploughed out barrows.  I had no idea then, that this barrow burial tradition had actually been brought from the Steppes of Eurasia.  Archaeology at the time didn't see the Bell Beaker as the arrival of people.  They saw it as a cultural transference from Iberia.  Genetics is now telling us differently.

A barbed and tanged flint arrowhead from one of my surveys.  A classic Bell Beaker artifact.

The Maritime Bell Beaker Culture of the Early Bronze Age appears to have gradually evolved by the beginning of the Iron Age, into what we traditionally call the Atlantic Seaboard Celtic Culture, so strong in places such as Ireland and Scotland.  Yet, most Irishmen carry the Y haplogroup R1b SNPs such as L21. A recent Irish DNA Study revealed that they found the modern Irish not only a fairly homogeneous population, but that it had its roots, particularly on male haplogroups, firmly in the Pontic and Caspian Steppes of what is now Ukraine and Southern Russia.  They also studied the DNA from remains of Bronze Age, and the earlier Neolithic people that lived in Ireland, and pronounced them to have had different origins.  The earlier, Neolithic Irish largely descended from population that originated in SW Asia.

http://www.pnas.org/content/113/2/368.full

Here in Britain also, the majority of men carry R1b Y-DNA.  I have a Steppe mtDNA haplogroup from my mother.  Additionally autosomal DNA calculators suggest that maybe circa 30% of my Copper Age ancestors were Steppe.  However, where did my Steppe ancestry come in?  The obvious would be from British Celts - but that is an unsafe assumption.  My recorded ancestry is totally SE English, and strongly East Anglian.  My autosomal DNA "flavour" though is atypical for a Brit, and is unusually Continental, with a tertiary pull from Southern Europe, that I can't explain.  If many of my ancestors two thousand years ago actually lived outside of the British Isles, most likely on the Continent, then they could have inherited much of this Steppe there.

Image above. A local round barrow burial mound hidden in Thetford Forest.

Ultimately of course, I know where maybe a third of my ancestors lived 4,000 years ago.  They were pastoralists on the windy Pontic Steppes, looking to the west, and wandering, what opportunities lay there?

My Ancient DNA Calculators

David Wesolowski's K7 Basal-rich test

Ancient North Eurasian

Another Ice Age hunter-gatherer "Ghost" population, but this one has been associated with human remains and an Upper Palaeolithic culture (Mal'ta-Buret') at Lake Baikal, Siberia.  We know that it significantly contributes to modern West Eurasians, through earlier admixture on the Eurasian Steppes.  Copper Age pastoralists then carried it westwards into Europe with their later expansion.

David gives the English average as 16.6%.  My result is 14.0%

Global 10 Test

The recent Global 10 test, run by my friend Helgenes50 of the Anthrogenica board, resulted in:

  • 38% Yamna_Samara (Eurasian Steppe Pastoralist)

FT-DNA My Ancient Origins

  • 9% Metal Age Invader

My MDLP K16 Modern Admixture

  • 22% Steppe (sourced from ancient genome of European Bronze Age pastoralists)
  • 22% Caucasian (derived from genomes of mesolithic Caucasian Hunter-gatherers)

My MDLP Modern K11 Oracle:

Closest Genetic Distances:

Using 1 population approximation:
1 British_Celtic @ 6.948432
2 Bell_Beaker_Germany @ 8.143357
3 Alberstedt_LN @ 8.426399
4 British_IronAge @ 9.027687
5 Halberstadt_LBA @ 10.273615
6 Bell_Beaker_Czech @ 12.190828
7 Hungary_BA @ 12.297826
8 Nordic_MN_B @ 12.959966
9 British_AngloSaxon @ 12.993559
10 Nordic_BA @ 13.170285

Celebrating my Neolithic Ancestors

Image above, last year, holding an artifact from the Neolithic Tomb of the Sea Eagles in Orkney.

Today in this post, I am celebrating my Neolithic heritage.  Another ancestral genetics enthusiast pointed out that rather than Anglo-Saxon, for a Brit and North West European, I actually had indications of enhanced Neolithic Farmer ancestry on most ancient DNA calculators (more on that below).  I was actually quite pleased to have that pointed out, and this post explains why I love the idea of being a modern Neolithic Man.

I remember being fascinated by the past as quite a young child.  On holidays across the British isles, I craved nothing more than visits to castles.  At home in Norwich, I'd haunt the local museums.  However, a love of the Neolithic took hold during my twenties. First, a fishing and drinking tour of Ireland with my brother, took me to the Newgrange Passage Grave site in the Boyne Valley.  Awesome impact.  Then several years later, I picked up the broken butt end of a Neolithic polished flint axe head on farmland behind my cottage.

The above photo is an image of another broken Neolithic flint axe head that I recorded during a surface collection survey many years later in Thetford Forest.

This eventually pulled me into a phase of looking for more prehistoric flint, which I later formalised into the Thetford Forest Survey.  During that period, in collaboration with the Forestry Commission, Norfolk Archaeology, and Suffolk Archaeology, I recorded thousands of struck flint and ceramic artifacts - many from the Neolithic.

Above image taken at the Castlerigg Stone Circle in Cumbria in 2006.

Any chance that I got, I'd also visit Neolithic sites across the British Isles - and continue to do so, hence last year I had a cycling tour of many late prehistoric sites in Orkney.  Absolutely love the Neolithic.  Even though an atheist, I have to confess that some of these sites give me a special vibe.  I have half-seriously told neo-pagan friends, that If I had to choose some gods, Then maybe they would be those of the Neolithic.  Something about the remote sites.

Above image - sorry for looking so bloody miserable and awful.  Swinside Stone Circle, Cumbria.

Our New Understanding of the Neolithic of Europe

What I really want to write about here though, is how recent population genetics, over the past ten years, is transforming how we see the Western Eurasian Neolithic.  Archaeologists had long pondered, our relationship to the British Neolithic people, and going further back and in turn - their relationship to the earlier Mesolithic hunter-foragers of the British Isles.

What recent research of both ancient and modern DNA has so far revealed is that after the last Ice Age, hunter-foragers moved up to Britain from Southern Europe.  Meanwhile, new cultures and economies were developing in the Middle East of SW Asia.  Across the Fertile Crescent, that ran up the Levant, East Anatolia, eastwards, then down the fertile valleys of the Tigris and Euphrates river valleys - people started to settle, domesticate wheat, barley, goats, sheep, cattle and pigs.  They started to farm for the very first time.  This was the Neolithic Revolution.  The first fired ceramics - pottery was added to the recipe, along with polished stone tools.  Eventually these populations also absorbed the very first metallurgy, literacy, and town building - falling into the southern half of those river valleys in Mesopotamia.

Image above - Standing Stone at Stillaig, Argyll, Scotland.

From the Levant and Anatolia, both along the Mediterranean, and direct across the Balkans by land, Neolithic culture and farming technology spread westwards and northwards across Europe.  Population genetics now tells us that this WAS carried by people.  It was not just a transfer of culture and artifacts.  DNA from South-West Asia was strongly carried across Europe.  The Neolithic farmers were a people, with roots in the Near East.

What happened to the old European hunter-foragers?  It seems a mixture of displacement and admixture.  As the Neolithic Revolution rolled across Europe, it did pick up some hunter-gatherer DNA.  However, few of the male haplogroups.  By the time that the First Farmers reached the British Isles, they would have had an ancestry mixed between Near East Asian and European hunters.  Without a doubt, brides and perhaps slaves were taken along that long route from Anatolia to Britain.  This pattern perhaps continued when they reached the Irish and British Isles, and confronted some of the last hunter-gatherer populations of North West Europe.

Image above.  Ring of Brodgar, Orkney.

All of this was fine.  The British Isles were settled by Neolithic peoples around 4,100 BC.  I've seen many of their monuments, studied excavation reports of their archaeological sites, and held many of their flint artifacts.  It was a dominant culture here for two thousand years.  Religious systems may have come and go.  They erected so many monuments here that still survive.  Causewayed enclosures, long barrows, cursuses, henges, monoliths, cairns, standing stone circles, timber circles, mounds, Silsbury Hill - and of course, the internationally renown Stone Henge.  However, we now realise that they carried much DNA from South West Asia!

They must have thought that they, their beliefs, and their social systems would last until the end of time.  We currently think that their populations and farming declined towards the end of their period.  There is a little evidence that they may have been subject to plague from Asia.  This might have weakened them for the next invasion and displacement.

Image above of Skara Brae, Orkney Neolithic settlement.

Image above of Mottistone Longstone, Isle of Wight.

The arrival of the Sons of the Steppes - the Beaker

I'll write more about these guys in a later post.  Around 2,100 BC, a new people and culture turned up in the British Isles.  Whereas the Neolithic peoples had largely originated in SW Asia, south of the Caucasus (with some European hunter-gatherer DNA picked up on the way), these new arrivals largely originated to the NORTH of the Caucasus, on the Pontic and Caspian Steppes.  Their Steppe ancestors perfected the domestication of the horse, bronze metallurgy, and wheeled wagons. The founder Steppe population has been identified by archaeologists as the Yamnaya.  They rolled into Eastern and Central Europe, where their arrival appears to have spawned the Corded Ware Culture.  Their descendants in turn appear to have spawned the Bell Beaker Culture in Western Europe.  In turn, the Bell Beaker appears to have developed into the Atlantic Seaboard Celtic Culture of fame and fashion.

The Eurasian Steppe male haplogroups absolutely dominate present day Europe.  However, again, they appear to have absorbed some women with Neolithic and even earlier Hunter-Gatherer populations into their genome.

The Three Way across Europe

Across modern Europe, we are a mixture of three distinct late prehistoric populations or genetic out-layers - from most recent to oldest:

  1. Yamnaya or Steppe
  2. Neolithic Farmer
  3. Western Eurasian Hunter-Gatherer

The above image is from CARTA lecture. 2016. Johannes Krause of the Max Planck Institute.  All Rights Reserved.

As can be seen above, some Neolithic DNA has survived in present day Europe.  It is strongest in Southern Europe.  Yamnaya ancestry is more of an influence in Northern Europe, although, old Hunter-Gatherer survives strong in the Baltic Republics.  The modern population closest to our Neolithic ancestors are the Sardinians.  So close, that when Ötzi, a frozen preserved Neolithic body was discovered in the Alps, his DNA was seen as so similar to present day Sardinians, that some incorrectly suggested that he had travelled to the Alps from Sardinia!

A Sardinian family while reading LUnione Sarda 

A Sardinian family.  With a mandolin.  Therefore perfect for here! By Roburq (Own work) [CC BY-SA 3.0], via Wikimedia Commons

My Neolithic Admixture

David Wesolowski's K7 Basal-rich test

Basal-rich

The Basal Eurasians are a hypothetical "ghost" population derived from DNA studies.  It is suggested that they splintered from other modern humans 45,000 years ago, presumably outside of Africa, somewhere around the Middle East.  They significantly contributed DNA to the Early Neolithic Farmers of the Fertile Crescent and Anatolia, and consequently, on to all of us modern West Eurasians.  

 David gives the English average as 26.5%.  My result is 28.8%

Global 10 Test

The recent Global 10 test, run by my friend Helgenes50 of the Anthrogenica board, resulted in:

  • 55% Baalberge_MN (European Middle Neolithic)

FT-DNA My Ancient Origins

  • 47% Farmer (Neolithic)

My Eurasia K9 ASI Oracle:

  • 27% Early Neolithic Farmer

My Gedrosia K15 Oracle:

  • 25% Early European Farmer

My MDLP K16 Modern Admixture

  • 31% Neolithic (modeled on genomes of first neolithic farmers of Anatolia)

My MDLP Modern K11 Oracle:

Admix Results (sorted):


# Population Percent
1 Neolithic 37.33


Image above.  Grimes Graves Late Neolithic flint mine complex, Norfolk

My Neolithic ancestry appears to be strong, for a Brit.  However - my Neolithic ancestors may not have all - or even at all, have lived in the British Isles.  My Neolithic ancestry may have been picked up along the way, across Europe, by ancestors as they travelled across Western Eurasia.

Will ancestry DNA tests tell me my family origins?

I have taken several DNA tests for ancestry, including those provided by the FT-DNA, 23andMe, and Living DNA companies.  Unusual for a tester, I am actually of a single population, very local, well documented ancestry here in East Anglia, South-East England.  I'm not someone in the Americas or Australia, that might have very little clue what parts of the world that their ancestors lived in, previous to immigration.  I know my roots, I'm lucky.  I live them.  You might ask, why did I feel the need to test DNA for ancestry?  The answer is, curiosity, to test the documented evidence, fill the gaps, look for surprises, and in particular, to understand the longer term, to reach further back into my ancestry.

I have though, become a bit of a skeptic, even a critic, of autosomal DNA (auDNA) tests for ancestry.  They are the tests presented by the businesses in results called something like Ancestry, Family Ancestry, Origins, Family, Composition, etc.  Instead of testing the haplogroups on either the direct paternal (Y-DNA), or direct maternal (mtDNA), these tests scan the autosomal and X chromosomes.  That's good, because that is where all of the real business is, what makes you an individual.  However, it is subject to a phenomena that we call genetic recombination (the X chromosome is a little more complicated).  This means that every generation circa 50% of both parents DNA is randomly inherited from each parent.  I said randomly.  Each generation, that randomness chops up the inherited segments smaller, and moves them around.  After about seven or eight generations, the chances of inheriting any DNA from any particular ancestral line quickly diminishes.  It becomes washed out by genetic recombination.

Therefore, not only are the autosomes subject to a randomness, and genetic recombination - they are only useful for assessing family admixture only over the past three hundred years or so.  There is arguably, DNA that has been shared between populations much further back, that we call background population admixture.  It survived, because it entered many lines, for many families, following for example, a major ancient migration event.  If this phenomena is accepted - it can only cause more problems and confusion, because it can fool results into suggesting more recent family admixture - e.g. that a great grandparent in an American family must have been Scandinavian, when in fact many Scandinavians may have settled another part of Europe, and admixed with that ancestral population, more than one thousand years ago.

DNA businesses compare segments of auDNA, against those in a number of modern day reference populations or data sets from around the world.  They look for what segments are similar to these World populations, and then try to project, what percentages of your DNA is shared or similar to these other populations.  Therefore:

  1. Your results will depend on the quality and choice of geographic boundary, allocated to any reference population data set.  A number of distinct populations of different ancestry and ethnicity may exist with in them, and cross the boundaries into other data sets.  How well are the samples chosen? Do they include urban people (that tend to have more admixture and mobility than many rural people).  Do they include descendants of migrants that merely claim a certain ancestry previous to migration?What was the criteria for sample selection?
  2. Your results might be confused by background population admixture.
  3. You are testing against modern day populations, not those of your ancestors 300 - 500 years ago.  People may well have moved around since then.  In some parts of the World, they certainly have!

It is far truer to say that your auDNA test results reflect shared DNA with modern population data sets, rather than to claim descent from them.  For example, 10% Finnish simply means that you appear to share similar DNA with a number of people that were hopefully sampled in Finland (and hopefully not just claim Finnish ancestry) - not that 10% of your ancestors came from Finland.  That is, for the above reasons, presumptuous.  It might indeed suggest some Finnish ancestry, but this is where many people go wrong, it does not prove ancestry from anywhere.

Truth

This is my main quibble.  So many testers take their autosomal (for Family/Ancestry) DNA test results to be infallible truths.  They are NOT.  White papers do not make a test and analysis system perfect and proven as accurate.  Regarding something as Science does not make it unquestionable - quite the opposite.  The fact of the matter is, if you test with different companies, different siblings, add phasing, you receive different ancestry results.  Therefore which result is true and unquestionable?

A Tool for further investigation

So what use is DNA testing for ancestry?  Actually, I would say, lots of use.  If you take the results with a pinch of salt, test with different companies, then it can help point you in a direction.  Never however take autosomal results as infallible.  Critical is to test with companies with well thought out, high quality reference data sets.  Also to test with companies that intend to progress and improve their analysis and your results.

For DNA relative matching, then sure, the companies with the best matching system, the largest match (contactable customer) databases, and with custom in the regions of the world that you hope to match with. There is also, GEDmatch.  Personally, I find it thrilling when I match through DNA, but in truth, I had more genealogical success back in the days when genealogists posted their surname interests in printed magazines and directories. 

The results of each ancestry test should be taken as a clue.  Look at the results of testers with more proven documented and known genealogies.  Learn to recognise what might be population background, as opposed to recent admixture in a family.  Investigate haplogroup DNA - it has a relative truth, although over a much longer time, and wider area.  Just be aware that your haplogroup/s represent only one or two lines of descent - your ancestry over the past few thousand years may not be well represented by a haplogroup.  Investigate everything.  Enjoy the journey.  Explore World History.

The most common misunderstanding - mtDNA

I just see so many misunderstandings on genetic genealogy and DNA test forums concerning mtDNA haplogroups, that I feel compelled to try to explain.

DNA testing businesses tend to dumb down a lot of information for their "audience".  I feel that this actually increases misunderstandings, and mtDNA haplogroups are a good example.  Rather than use the lengthy description mitochondrial DNA, or even it's shortened mtDNA, businesses describe it more frequently as Mother Line, or Maternal.  It misleads so many of their customers.  So let us put this straight:

  • A haplogroup is a  "combination of alleles at different chromosomes regions that are closely linked and that tend to be inherited together"  A series of mutations, that are inherited across generations.
  • mtDNA are a series of mutations within the DNA of mitochondria.  Mitochondria exist outside of a cell nucleus.  They have their own independent DNA, apart from the nuclear chromosomal DNA that dictates how we develop, what we are.  We all have mitchondria, in most of our cells.  They actually serve a function by processing energy.
  • As humans, we use nomenclature to group those mutations within a family tree of humanity.  My mtDNA mutations fall within Haplogroup H.
  • mtDNA cannot be passed on to future generations by males.  it is passed down to the children from the mother only.  I inherit H6a1a8 (my haplotype) from my mother, as do my brother and our sisters.  Only my sisters though will reproduce that mtDNA in their children.  My own children inherited the mtDNA of their mother, not mine.

So what does this mean in practice?

  • A Maternal / Motherline / mtDNA Haplogroup does NOT represent your biological ancestry.
  • A Maternal / Motherline / mtDNA Haplogroup does NOT even represent your mother's "half" of your biological ancestry.
  • For example, your father's mother most likely carried a different mtDNA.  Your mother's father most likely had a different mtDNA haplotype.  Only one of your sixteen great great grandparents passed down their mtDNA to you.
  • Instead, it acts pretty much as a single line genetic "marker" that can be traced only along one very narrow, single line of ancestry.  Look at the image at the top of your post.  Do you see?  Just one line of descent. It follows your mother's, mother's, mother line, and so on, all of the way back to a hypothetical "Mitochondrial Eve" 100,000 to 200,000 years ago.
  • It is not a tribe, ethnicity, or identity.  It is just the mtDNA genetic marker (Haplotype) that you inherited from your mother.
  • It is no good going onto mtDNA genetic genealogy forums and giving the names and origins of ANY direct ancestor, other than a woman (or her children) on that maternal line (mother's mother's, mother, and so on).
  • Forget surname studies.  In most western societies, and in many other's, the "family" name is inherited from the father - and follows a completely different course (Y-DNA).  Indeed, the surname of your true mtDNA ancestor changes most generations with marriage.  That is what makes this the most difficult line to trace with documentary methods.
  • Although difficult, it is the most true and secure.  Although secret or hidden adoptions can occur, the risk of non-parental events is much lower than for the strictly male line (Y-DNA).
  • Mitochondrial DNA mutates at a very slow rate.  This, along with the change in surnames most generations, can make it difficult to use successfully for genetic genealogy.  Many of the mutations are thousands of years old.  Alternatively, it makes it a valuable evidence for tracing ancient ancestry within a population.

That is all that I wanted to say.  it is a fascinating marker, but it is not representative of even 50% of your ancestry, it is not an identity, it is pretty irrelevant to surname (studies), it is inherited only down one narrow line - but all of the way back.

My earliest mtDNA ancestor with a surviving photograph.  My mother's mother's, mother's, mother (2xgreat grandmother), born Sarah Daynes in Norfolk, during 1845.  Her mtDNA would be H6a1a8.  Her mother was born Sarah Quantrill in Norfolk during 1827.  Her mother in turn was born Mary Page in Norfolk during 1791.  Her mother in turn was born Elizabeth Hardiment in Norfolk during 1751.  Her mother in turn (my 6xgreat grandmother) was Susannah Briting, who married John Hardyman in Norfolk during 1747.  If my documentary research along this line is correct, then Susannah inherited mtDNA haplotype H6a1a8 from her mother.

Living DNA - my early results are in!

After a four month wait, my initial results have arrived today from Living DNA.  The wait has, I feel been understandable for a launch company.  The results are still limited to standard mode only.

Living DNA Standard mode

100% European
Regional:
74% Great Britain & Ireland
10% Europe (South)
7% Europe (North and West)
10% Europe (unassigned).

Sub-regional:

39% East Anglia
8% South Central England
5% South East England
5% Lincolnshire

2.5% Cornwall
2.4% North Yorkshire
2% South England
1.9% Devon
1.6% Central England
1.5% North West England
1.3% South Yorkshire
1.2% Northumbria

3.5% unassigned Great Britain & Ireland

10% Tuscany (Europe South)
5% Scandinavia (Europe North and West)
2% Germanic (Europe North and West)
9.7% Europe unassigned.

My initial response?  Enthralled and highly impressed.  A little disappointed that the East Anglia percentage was not higher.  I suggest 77% based on my documentary record.  Living DNA gave it 39%.  I still find that a very good result.

However... let's get this into perspective to 23andMe and FT-DNA tests.  Documentary evidence suggests that I am 100% British over the past 300 years.  23andMe said 32%.  FT-DNA said 36%.  Living DNA gets it so much closer at 74%!  That is a whole lot more accurate.

What about the remaining 26% on regional level, where do Living DNA say that comes from? All European.  It suggests 9.7% unassigned European, 9.6% Tuscan (Southern European), 4.6% Scandinavian, and 2% "Germanic".  The Tuscan is interesting, but I'm not convinced yet that it is not ancient and population based.  The Scandinavian is also most likely ancient - in my opinion.

Two things please and impress me about my results on the sub regional level:

1) Based on documentary research, I estimate that 250 years ago, 77% of my ancestors were in East Anglia.  Living DNA indeed, sees it as by far my largest sub regional percentage.  At 39%, a little low, but very impressive.  They correctly identified me as East Anglian.

My next main region, in my Family Tree, I have circa 12% ancestors from "South Central England".  Living DNA saw this, and it is indeed, my second  largest percentage at sub regional level.  I get South Central England with 7.5% - incredible.  The small "South England" would also tied to this line.

Then I get 5.4% South-East England.  It could be over spill from the East Anglia ancestry, but I do have one 3xgreat grandfather Shawers In London, that I do not know the origins of.  I wonder now?

Then it's "Lincolnshire" with 4.8%.  Brilliant!  I had a 3xgreat grandfather from the southern parts of Living DNA's Lincolnshire sub region.  That fills my documentary record almost perfect.  The small "Central England" percentage would also tie to this line.

Then follows a number of low percentages from all over Southern and Eastern England.  They might tell a story, or might not.  Surprisingly Cornwall and Devon show up in low percentages, as does Yorkshire.  Did my Shawers line actually come from one of those regions?  I have seen Shawers in Devon, Cornwall, Shores in Yorkshire, and Shawers in Lancashire.

2) What is excluded can also demonstrate the accuracy of such a test.  No Welsh, Northumbrian, French, Normand, Irish, Scottish, or Iberian ancestry suggested.  Not that I'd have any objection against descent from any of these, or anywhere - but that this test successfully sees that I am NOT descended from these close regions, is to my mind, a great success, and a vast improvement on any past autosomal DNA tests for ancestry by other businesses.  The truth is, that the English are so like these other populations!

On mtDNA they get my haplogroup down to H6a1a.

They have not yet completed my Y-DNA analysis.  I guess L in an English tester might have thrown them a bit.

No other DNA test has ever existed quite like this.  My initial response is - an amazing test.  The future of autosomal testing for Ancestry.