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.



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.

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.

What did I learn about my genetics in 2016?

  1. I learned that there was no genocide of the British by the Anglo-Saxons.  Instead, POBI (Peopling of the British Isles), and a survey based on remains in the Cambridge area, suggested that only around 25% to 45% of the Early Medieval admixture of present day ethnic English was Anglo-Saxon.  The majority was earlier British.  It appears that there was a significant immigration event of Anglo-Saxons, but they admixed with the British, they didn't displace them.
  2. I discovered many more recorded ancestors of my mother, through her great grandmother Sarah Thacker (nee Daynes), in South and Mid Norfolk.
  3. I discovered more recorded ancestors of my father, through his maternal grandmother Emily Smith (nee Barber) in South Norfolk, and over in Suffolk.
  4. I have been mapping my ancestral events across East Anglia, and South-East England.
  5. I rebuilt my gedcom file using the open source Gramps software application.
  6. I extended my father's family tree in the Swanton Morley and East Dereham area of Mid Norfolk
  7. I further researched the life, career, and military service of my paternal great grandfather.  His Royal Field Artillery service number was 32392.
  8. I  received my first ever DNA for ancestry test results from 23andMe.  I started to understand how autosomal DNA tests for Ancestry do not work as they are intended, on populations such as the English.  I've since greatly explored how my, and other English, are seen by current DNA for Ancestry.  I discovered how these tests mistake background population admixture, for more recent family admixture.
  9. I tested my mother at 23andMe, and phased my results to her.  I discovered that our results are more "Continental" than for most English.  However, there was more of a southward pull towards France, than to Scandinavia.
  10. I discovered that our mitochondrial DNA haplogroup is H6a1.  I am currently awaiting more in depth test results on mt-DNA from FT-DNA.
  11. I learned that my Y-DNA haplogroup was L.  A big shock, as it is considered Asian rather than European.  Further tests revealed it to be L1b2c (L-SK1414), only one of a handful yet recorded in the World, and most likely originating in the area of Iran and Iraq.  I discovered that it must have travelled from Asia to Southern England between 2,000 and 500 years ago.  My Y ancestors would have been Western Asian before then.  Possibly connected to Mesopotamia, and would have been Ibex hunters perhaps in the Zagros mountains earlier than that.
  12. I discovered the family of my ancestor David Peach, from the village of Maxey, in the East Midlands.  I discovered that he had been transported for Life to a tough penal colony in Tasmania, for stealing two cattle.
  13. I learned and explored the ancestry of my surname line back into Oxfordshire, and up the Thames Valley to the village of Long Wittenham.
  14. I visited the WDYTYA genealogy event in Birmingham.
  15. Like many other people involved in population genetics, I've learned that there really was a great expansion across Europe, from the Pontic and Caspian Steppes, during the Early Bronze Age.  I've accepted that earlier European Y haplogroups in particular have been greatly displaced by this event.  The founder group of this migration event have been identified as the Copper Age Yamna or Yamnaya Steppe Pastoralists.  My own mt DNA haplogroup H6a1, most likely, moved into Europe with this migration wave.  The Global 10 test suggests that circa 38% of my ancestors from that time period, were of the Yamna.  The Yamna themselves were admixed earlier with a group of Ice Age Siberian hunter-gatherers, known to population geneticists as the ANE (Ancient North Eurasian).  According to the K7 Basal-rich test, circa 14% of my ancestors at that time had belonged to the ANE.
  16. I've learned from the Global 10 test, that around 55% of my ancestors during the Middle Neolithic, were European Neolithic Farmers, who had descended partly from hunter-gatherer groups from different parts of Eurasia, and also from a "ghost population most likely that lived during the last Ice Age somewhere in the Middle East.  It has been called "Basal Eurasian", and the K7 Basal-rich test suggests that circa 29% of my ancestors of that time, belonged to that group.
  17. I've learned that there was a population of hunter-gatherers across the Near East and Europe, that we call the Villabruna Cluster Type.  They arrived in Europe during the later part of the Ice Age circa 15,000 years ago.  They had a lower Neanderthal percentage, and closer relationship to Near East groups than the earlier hunter-gatherers of Ice Age Europe.  The K7 Basal-rich test suggests that I could have inherited up to 57% of my DNA from that group at that time (through a variety of later admixed populations).
  18. I've explored DNA tests that suggest that I have some Southern European ancestry.  I've discovered that this is common for the English, and probably reflects very old admixture events.  The English often have a small Southern European signal, and they have slightly lower levels of ANE, and slightly higher levels of European Neolithic Farmer, than do their Irish, Scottish, or Scandinavian neighbours.  In other words, a more Southern pull.  POBI noted a pull to France, and dates it to a number of previously unknown migration events from the South during late prehistory.  Others have suggested Medieval Norman and French admixture.  Both could be correct.
  19. With the help of online genealogy, I've now greatly expanded my Family Tree.  My gedcom file presently includes records of 1665 individuals, including for 252 direct ancestors of myself!

That pretty much sums up my 2016 in genetic genealogy.

The rest of my Life saw dramatic changes in 2016.  I ended a six year old relationship.  Moved to a new home.  After eighteen years working for one renewable energy plant group, I changed to a new company, and a new renewable energy plant.  I started a new relationship.  I received my mandolin, hand made for myself.  I've lost my mojo for photography.  I travelled to Orkney, cycled over it's islands.  I travelled to Sofia, Bulgaria, partied at a Bulgarian reggae event.  Some mega changes for me in 2016.  Genetics are an interest, they are far from being my Life.

mt DNA Haplogroup H6a1 Resource Page

Above image by Marta D. Costa, Joana B. Pereira, Maria Pala, Verónica Fernandes, Anna Olivieri, Alessandro Achilli, Ugo A. Perego, Sergei Rychkov, Oksana Naumova, Jiři Hatina, Scott R. Woodward, Ken Khong Eng, Vincent Macaulay, Martin Carr, Pedro Soares, Luísa Pereira & Martin B. Richards [CC BY 3.0], via Wikimedia Commons

I'm gathering here, data on H6a1a, in preparation for my expected FT-DNA mtFull Sequence test results later this month.  23andMe has previously tested me to H6a1.  The James Lick and Wegene analysis services both predict me to be H6a1a8. What will FT-DNA say?

A collection of ancient references for mitochondrial DNA haplogroup H6 so far (2017-01-02) harvested from Ancestral Journeys

Palaeolithic Western Eurasian aDNA

No mtDNA H6 so far found.  Mainly U

Mesolithic Western Eurasian aDNA

No mtDNA H6 so far found.  Mainly U.  Other H found in Russia, Georgia, and Sweden.

Near Eastern Neolithic aDNA

No mtDNA H6 so far found.  Some H.

European Neolithic aDNA

No mtDNA H6 so far found.  Many other H.

Copper and Bronze Age aDNA

  • H6.  Israel Wadi el Makkukh. 4240-4065 BC
  • H6a1b.  Yamnaya.  Russia Kutuluk River, Samara. 3300-2700 BC
  • H6a2.  Potavka.  Russia Kutuluk River, Samara.2867-2484 BC
  • H6a1a.  Corded Ware.  Germany.  Esperstedt.  2465-2395 BC
  • H6a1b.  Okunevo.  Russia.  Verkhni Askiz.  2201-2036 BC
  • H6a1b3.  Unetice.  Germany.  Leau.  2200-1550 BC
  • H6a1a.  Srubnaya.  Russia.  Spiridonovka, Samara River.  1913-1629 BC

Iron Age aDNA

No mtDNA H6 yet found.  Many other H.

Ancient Roman aDNA

  • H6a1a.  Romano-British.  England.  York.  100-400 AD
  • H6a1b2. Romano-British.  England.  York. 100-400 AD.

Medieval and later European and Western Asian aDNA

  • H6a1b1.  Lombard.  Italy.  600-800 AD
  • H6.  Viking.  Oppland, Norway.
  • H6a1a.  Magyar.  Karos-Eperjesszög, Hungary. 800-850 AD
  • H6a1b. Magyar.  Karos-Eperjesszög, Hungary. 900-950 AD
  • H6a1a.  Medieval English.  East Smithfield, London, England.  1347–1351 AD.

Discussion

Above image by User:Dbachmann [GFDL or CC-BY-SA-3.0], via Wikimedia Commons

Although this is based on limited samples (albeit rapidly growing samples over the past year), there is of mt haplogroup H spread across Western Eurasia, certainly by the Mesolithic period.  Today, it is the most common haplogroup in Europe, found in 41% of Europeans.

H6 however, is less certain.  It has been suggested that it is more frequent in Eastern Europe, and the Caucasus.  The above ancient DNA references, collected so far, might suggest that H6a1 arrived into Europe with the Yamnaya expansion off of the Eurasian Steppes, carried by Steppe pastoralists migrating westwards, during the Copper Age / Early Bronze Age.  H6a1a itself, first appears in the Corded Ware Culture, which has recently been recognised as a fusion culture, that developed in Eastern / Central Europe, as a result of the arrival of the Steppe pastoralists.

The samples above suggest that H6a1a was present in Britain previous to the Anglo-Saxon period, and was also present in Medieval London.

H6a1a Today

Harvested from the FT-DNA MT-DNA H6 Haplogroup Project (2017-01-02).  These samples are most likely affected by a bias in sampling, to people of European heritage.

H6a1a - T11253C.  Britain, Ireland, Netherlands, Central Europe, Italy, Iberia, Balkans.  A cluster in SW Britain probably caused by sampling bias.

  • H6a1a* - G16526A.  Czech Rep.  Poland.
  • H6a1a* - T3548C.  Sweden, and Sicily.
  • H6a1a2a - C41T, G16482A.  Lithuania
  • H6a1a2a* - A297G, A14970G.  England
  • H6a1a3 - T5785C.  England (Norfolk), Germany, Poland, and Ukraine.
  • H6a1a3* - T7094C.  Finland.
  • H6a1a3a - A827G.  Scotland
  • H6a1a4 - T10237C.  Norway, Poland, England, and Ukraine.
  • H6a1a5 - C10936T.  Very Eastern Europe - Russia, Belarus, Ukraine, Moldovia, and Romania.
  • H6a1a5* - T5302C.  Russia.
  • H6a1a6 - A288G.  Poland.
  • H6a1a8a - T6185C, G16145A.  Wales.

Haplogroup.org.

The Haplogroup.org website proposes the following dates:

H6a1

Age: 8,669.7 ± 1,905.2; CI=95% (Behar et al., 2012b)

Origin: Undetermined
Mutations: A4727G

H6a1a

Age: 7,139.5 ± 1,993.2; CI=95% (Behar et al., 2012b)
Origin: Undetermined
Mutations: T11253C

H6a1a8

Age: 2,023.7 ± 1,898.9; CI=95% (Behar et al., 2012b)
Origin: Undetermined
Mutations: T16298C

Facebook Group



2017-01-04 UPDATE


I received my FT-DNA mtDNA Full Sequence test results.

Confirmed H6a1a8.


Matches mainly North America and Australasia without many Old World provenances.  However, I'm getting the distinct impression that it's been in the British Isles for some time.  I'm starting to research, but I'm seeing England, Ireland, Wales, maybe Finland.

Using the above Behar et al dating of H6a1a8, I age this haplotype to between 1970 BC and 1825 AD.  It's not old, although most likely late prehistoric.  It must have formed after Corded Ware, Unetice, etc.  Might date towards the end of the Bell Beaker Culture at a stretch, but most likely later - Iron Age perhaps?

My main interest is origins, with genealogy only as a bonus. I'm interested in knowing where H6a1a8 originates! H6a1 has been found in Yamna context. H6a1 and H6a1a have been found in Corded Ware context. No earlier H6a1 found in European atDNA. So it appears likely, that H6a1/a was an mt DNA type that followed the many Y-DNA types of the Copper Age Steppe migration across Europe - despite the usual dominance of Steppe Y haplogroups in Western Europe that indicate a male sex bias. 

Behar et al., 2012b, dates H6a1 to 8,669.7 ± 1,905.2; CI=95%, H6a1a to 7,139.5 ± 1,993.2; CI=95%, and H6a1a8 to 2,023.7 ± 1,898.9; CI=95% So I see H6a1a8 as pretty young, most likely Bronze Age or Iron Age. I'm curious as to when it distributed through Europe, and when it likely entered the British Isles. My mt-line has been in Norfolk, England for at least 290 years, when my earliest mt ancestor, Susannah Briting was born. She married my ancestor at Bunwell, Norfolk in 1747. I'd say that the probability is that it had been here in East Anglia long before that paper trail. So when did it likely move here?

23andMe had previously tested me to H6a1. Both the James Lick mthap analyser, and WeGene, looking at the 23andMe raw data, took that to H6a1a8. They were correct:

The FT-DNA mtFull Sequence confirmed my mt haplogroup to be H6a1a8.

My HRV1 mutations are: A16129G, T16187C, C16189T, T16223C, G16230A, T16278C, T16298C, C16311T, T16362C, A16482G, C16519T
My HRV2 mutations are: G73A, C146T, C152T, C195T, T239C, A247G, 522.1A, 522.2C, 309.1C, 309.2C, 315.1C
Extra mutations are: 309.1C309.2C315.1C522.1A522.2CC16519T

HRV1 matches are:

England 3
Hungary 1
Ireland 4
UK 1
USA 1

HRV1 + 2 matches are:

England 2
Hungary 1
Ireland 3

I have a "HRV1, HRV2, and Coding Region" exact match: Ireland 2

On Matches I get four GD0, but all appear USA/Aus, etc. I have emailed them. Three replied. No paper or geographical correlations. They can't follow their mt lines previous to emigration. They could come from anywhere in Europe, although English surnames keep dominating on their maternal sides.

On Matches map, a little more hope:



I've joined the H6 project, but being a development of the pretty massive mt hg H Project, it is drowned in submissions, with a long waiting queue of "ungrouped". The only other H6a1a8 on the results is USA. There is a H6a1a8a ungrouped as private located as "Finland", and another H6a1a8a located to Wales.

Other Links


H6a1a/H6a1b linked to reduced risk of Alzheimer's Disease