Story of L. My Big Y Test Results

The above Photograph of the Sumela Monastery, Trabzon Mountains, former Pontus, by reibai of Flickr under Creative Commons Licence.  Close to the home of my nearest recorded Big Y cousins today.

The Big Y Test

The FTDNA results came back.  As with the Y111 test results, they were three weeks earlier than scheduled.  So what has this test told me, about the story of my Y-DNA, and it's exotic L-M20 genetic marker? It was not a disappointment.

Warning

Remember, I am only telling the story of one single line of descent.  Y-DNA merely provides a convenient genetic marker of mutation, that can be compared and traced with others.  It does not define anyone.  From an anthropological perspective, haplogroups are of value in a collective sense - to a population.  I no doubt share the story of my Y with many more people alive today.  I may be a carrier of it, but it is also your story, just as the haplogroups that you carry, are also my story - through our mothers and shared descent.  Y-DNA passes strictly on only one line of descent - from father to son.  It is not inherited nor passed down by women.  Only on that one strict paternal line of descent. The Y haplogroup is only a convenient marker of one line.

The Y Haplogroup L

Y Haplogroup K formed in a paternal lineage of hunter-gatherer fathers and sons, that share a MRCA (most recent common ancestor) during the Upper Palaeolithic, circa 45,400 years ago.  Where did my Y ancestors live at that time?  We think that they lived in Western or Southern Asia.  Iran is a favourite proposal. My earlier Y ancestors had most likely exited Africa 20,000 years earlier, and were well established in Asia.  They had most likely met and confronted another archaic human species, The Neanderthal. This was however, a time of great expansion by humans.  The first anatomically modern humans had recently entered Europe, while other moderns u were arriving in Australia.  The Ice Age was in a flux, but glaciation was advancing.

Our most recent common Y ancestor to carry Y Haplogroup LT lived circa 42,600 years ago.  Then a mutation in the Y-DNA lead to the formation of Y Haplogroup L, with a most recent common ancestor 23,200 years ago, close to the time of the Last Glacial Maximum, when ice sheets were reaching their maximum positions.  K, LT, and early L, most likely all originated in Upper Palaeolithic hunter-gatherer populations living during the last Ice Age, in the area of modern day Iran and Iraq.  It was a time of increased stress on human populations, that were having to adapt to some severe environmental challenges, and may have at times faced isolation into a number of Ice Age Refuges.

Around 18,400 years ago, M317 appeared on their Y-DNA, then circa 14,000 years ago, my line (L-SK1214), diverged away from L-M349.  L1b today, occurs mainly in Western Asia, from Anatolia to Afghanistan.  L1a occurs mainly in India, Sri Lanka, and in Pakistan.  Where did all of this occur?  We don't know yet.  There is so little data.  Some other divergences popped up in Southern and Central Asia.  Some of these sub clades in India and Pakistan, are the most numerous of L today.  However, the finger keeps pointing at Western Asia, as the source of much of L divergence, particularly in L1b sub clades such as M317, and M349.  But we don't yet know what part Europe played if any.  Both M317 and M349 crops at low frequencies across Europe, particularly along the south coast, and in Italy.  L2 (L595) crops at at low frequency almost exclusively in Europe.  Altogether, L forms only around 0.3% across Europe as a whole, yet, this diversity sits at low frequencies scattered across the continent.

Iran may equally be a key.  We believe that it could have been home to L for a very long time, but we have very little data from that part of the world.  L is also missing from ancient DNA.  A hypothesis has been proposed that some early Neolithic farmers from Anatolia, may have carried L, and may have carried it into Europe for example.  All speculation, but it could explain some of these old divisions of L that we are starting to see across Europe and Western Asia.  Some of the earliest Eurasian L Y-DNA extracted so far has only very recently been reported - in populations of Iron Age Huns, that had migrated westwards into Europe.

My Big Y Results

So what did the test tell me about my line?  Was I descended from a recent immigrant from India or Pakistan?  An Iron Age Hun?  An Italian?  How about a Pontic Greek, or a Persian?  Where do I fit in?

The answers provided by the Big Y were a bit of a shock.  I had 90 novel SNPs in my Y-DNA, that have not been seen before in any other Big Y Test, not even in any of the other 23 Big Y test results within the FTDNA Y Haplogroup L project.  The last SNP to terminate, that has already been reported, was SK1414.  The administrator has not yet found it's non-FTDNA origin, but believes that it came from a test in Iran.  Therefore, my sub clade can now be declared as L-SK1214.

My nearest FTDNA Big Y matches were two from Pontic Greek ancestry.  However, here is the crunch.  The project administrator calculates that even these testers, my closest known Y cousins that have so far tested to Big Y level, last shared a common Y ancestor with me 13,000 years ago.

When I have my BAM file, and submit it to the Yfull tree, it should make a significant alteration to the branches, as my lineage of SK1414, appears to branch off from L1b, perhaps only 1000 years after L1b appeared, and before the PH8 lineage associated with my Pontic Greek cousins formed.

L-SK1414 (L1b2c)

So my new terminal SNP SK1414 separated from the Pontic Greek PH8 lineage around 13,000 years ago.  What was happening in Western Asia then?  This was towards the end of the last Cold Stage.  There were some cold fluctuations in the Ice Age climate, with some advances in glaciation, before they finally started to melt back for the present interglacial period.  Perhaps some of these climatic stresses were involved?  a severe freeze took place around 12,700 years ago. 

My most recent common ancestors to any other Big Y testers - the Pontic Greek samples, lived somewhere in Western Asia around 13,000 years ago.  They most likely were Western Asian ibex hunter-gatherers.  The earliest sign of agriculture in the region, the Pre Pottery Neolithic A doesn't take off until around 10,300 years ago.

Where have my Y ancestors been over the past 13,000 years?  That is the big question that I am probably unlikely to answer within my lifetime.  More testing, by more L testers in the future may reveal more, as would the results of more ancient DNA from excavations.  If I had to bank money on it, I'd say that my Y ancestors were most likely to provenance to the Fertile Crescent of the Neolithic Revolution.  Perhaps in the river valleys of Iraq / Iran.  They may have gone on to take part in the Pre Pottery Neolithic A Culture there.  That might account for their existence over the next few thousands of years.  However, when did my lineage enter Europe?  Did it arrive with Anatolian Early Neolithic farmers?  Or did it arrive later?  Perhaps even, much later?  I just cannot answer that.  Suggestions are most welcome.


The above photograph taken of the excavation of Jarmo, an Early Neolithic village in Iraqi Kurdistan, dated to 9,100 years before present.  From Wikimedia Commons by user Emrad284.

The STR testing, and the matching with the Chandler family might suggest that my Y line arrived in Southern England quite recently, perhaps during the Medieval.  However, I am acutely aware of how very few English have yet tested - that more L could turn up, that rewrite that arrival date.

Unofficial proposed tree by Gökhan Zuzigo

Conclusion

It seems that I have 12,700 years of unwritten or detected family history to research on my paternal line.  The Big Y test told me that I have a hunter-gatherer ancestor, somewhere in Western Asia, most likely Iraq / Iran, perhaps 13,000 years ago.  Then a rather long gap, until the Brooker surname appears on parish registers in the Thames Valley of Southern England, leading down to myself, and onto my son.

The Chandler family, judging by the comparative STR evidence, are Y cousins, with a shared Y ancestry until circa 330 - 700 years ago.

That's it.  We were missing for a long time.  I'm looking forward to trying to work out where my missing ancestors were for thousands of years.  I'm looking forward to seeing more L1b tests appear on Yfull and on the Y haplogroup L Project.  Please test.

The above photograph on Rock Art in Iran, taken by dynamosquito on Flickr linked here under a Creative Commons Licence.  The Ibex seems to feature frequently in prehistoric rock art in the region, and perhaps was a primary prey of our ancestors.

On the Trail of our Y Ancestor

Locator map Iran South Khorasan Province

Early examinations of the Chandler / Brooker Southern English L-M20 Y haplogroup samples, seem to be suggesting that they share a common ancestor quite recently, perhaps between 300 and 600 years ago.  That might mean that a Y ancestor carried the haplogroup into England, perhaps between the 13th and 17th centuries AD.

Where did that Y-DNA come from?  It could have been carried directly by one Y ancestor from a homeland, or it could have transported to England gradually over many generations, from a homeland in Western Asia.

An early match has been forwarded by Caspian, forum user at Anthropogenica.  It is a 111 STR marker, from Birjand / Southern Khorasan, in Eastern Iran.

Could this be the home of our Brooker family Y ancestors?  That is to say, if I was to trace my father, back to his father, to his father - and to continue along this route, might I eventually find my ancestors on this paternal line, in Eastern Iran?  It's an early possibility.  More data, more tests, might eventually give me a better answer.

The STR evidence linked on a Google Sheet.


Edit. 25th May 2016

Early analysis by Gareth Henson, informally suggests a tmrca (time since most recent common ancestor) between myself and the guy in Eastern Iran, of circa 3,000 years ago, or if you prefer, 1000 BC. That would mean that we shared a common lineage until around the time of the Later Bronze Age in British terms. Our common  Y ancestor most likely lived nearer to his home in Western Asia than to mine in North West Europe. 

That isn't long ago. It might suggest that our most recent common ancestor lived in Western Asia around about the time of a series of tensions and conflicts  between Greeks and Persians.  On the other hand, Anthropogenica user Anabasis, using the Clan McDonald TMRCA Calculator, suggests a more recent date, around 1,800 to 1,500 years ago.  That in his words puts it into a context of "In that times Roman - Sasanian wars happened along Eastern Anatolia. Greek- Persian wars were 1 millennium earlier.".  However, he warns, that STR data is not a trustworthy indicator of a TMRCA.

What I love though, is that it stirs the imagination.  Whether 1,500 years ago, or 3,000 years ago - I, an East Anglian, had a paternal ancestor somewhere most likely, between Eastern Anatolia, and Afghanistan.

Kit Number 26369

Family Tree DNA (ftDNA) is a commercial genetics genealogy company, with a reputation for cornering the market in Y-DNA testing, and in accumulating references for haplogroups.

That map above, that is the sum total of Y haplogroup L submissions on their database for the UK.  All four of them.  The two to the east are L2 and L2a.  The one in Oxfordshire represents my own pending results (expected L1b or L-M317).  Just to the south of that, the SW representative, is kit number 26369.

The cluster in Central Europe, is the "Rhine Danube Cluster", but that is L1a (L M349).

So you see, except for kit 26369, my Y haplogroup is way out here, like a distant satellite on it's own.  So what is Kit 26379?  Well, it is only a Y12 STR test result.  Predicted to M20, but it has been assigned to L-M317 un-clustered.  Up to now!  It's located only 32 miles south of my surname line during the 1740's.  Could it relate to our line?

STR:

11 23 15 10 11-17 11 12 12 14 14 31

Time will tell.  My Y111 test should take place within the next month.

How did our family inherit a Y haplogroup L1b?

I've inherited from my father, a yDNA haplogroup of L1b M317.  Not a haplogroup ordinarily even regarded as European.  It's not particularly common anywhere, but of such low concentrations in North-west Europe, that it doesn't even appear on our haplogroup maps or tables.  Closely related L1a is concentrated in India, while L1c is concentrated around Pakistan.  But our sub clade L1b, has it's main concentration in Western Asia, south of the Caucasus.  It has been found for example in higher concentrations, in the Pontic Greek community that lived in Pontus, North East Anatolia, on the coast of the Black Sea.

By Spiridon Ion Cepleanu - Own work Derivative map, background of Uwe Dedering (File:Turkey relief location map.jpg), CC BY-SA 3.0, https://commons.wikimedia.org/w/index.php?curid=20601902

I'm currently investigating the yDNA further with STR testing.  Unless the haplogroup was passed into our family at some point, via a non-paternal event, it should follow my surname line, which I've traced back to a John Brooker who fathered children in Oxfordshire during the early 19th Century.  The surname itself is certainly English.  It clusters in a few places in England - particularly in Kent / Sussex, although our family surname appears to have originated with a smaller cluster in the Oxfordshire / Berkshire area of England.  So how did we end up with an East Anatolian Y?

I quite like the below example of a similar, even more bizarre event in another English family, the Revis Family of Yorkshire, that share yDNA more normally associated with people in South-West Africa:

" ... it is surprising to find the haplogroup A1a (M31) in a family of the Yorkshire surname Revis. This haplogroup is close to the root of the human family tree and rare even in Africa. Genealogical detective work established that the Revis males who carried A1a fitted onto two family trees going back to the 18th century in Britain. A paper trail to a common ancestor could not be found, but genetically he can be deduced a few generations earlier. How A1a arrived in Yorkshire remains a mystery. As Turi King and her colleagues point out, it could have come via a round-about route and not carried direct from Africa.22T.E. King et al., Africans in Yorkshire? The deepest-rooting clade of the Y phylogeny within an English genealogy, European Journal of Human Genetics, vol. 15 (2007), pp. 288–293; G. Redmonds, T. King and D. Hey, Surnames, DNA and Family History (2011), p. 201-204. A possible clue is that the surname Revis is derived from Rievaulx.23P.H. Reaney and R.M. Wilson, Oxford Dictionary of English Surnames, 3rd edn., revised (1997). In 1301 a William de Ryvaus was the wealthiest taxpayer in Marton, North Yorkshire, about six miles from Rievaulx, and a man of the same name paid tax in Gisburne (Guisborough) about 12 miles north of Rievaulx, while a William de Ryvauxe was the sole taxpayer for Barnaby, in the parish of Guisbrough.24Yorkshire Lay Subsidy - 30 Ed. I (1301), ed. W. Brown, Yorkshire Archaeological Society Record Series, vol. 21 (1897), pp. 32, 43 bis, 45. Rievaulx was a Cistercian Abbey in medieval times, founded from Clairvaux in France, and part of an Order with houses in Spain and Portugal built on land won from the Moors. No doubt genetic traces were left in Iberia of the Moorish centuries. A1a is not the most likely haplogroup to be among them, but perhaps not completely impossible. Master masons and other useful craftsmen could have been recommended by one monastic house to another in the Order. So we can dimly see one possible route from Africa to Yorkshire."

Copied from Ancestral Journeys

As for how our y-DNA may have arrived in Southern Britain, I can imagine a number of scenarios.  There is the early Neolithic hypothesis, that Y haplogroup L1b may be a remnant survivor of early European populations that had settled Europe before they were largely displaced during the Bronze Age, by DNA from the Eurasian Steppes.  But if that were the case, I'd expect it to be less rare.  L1b is scattered in low frequencies across Italy, and along the South European coast of the Mediterranean.  For that reason, it may be that it arrived here, or gradually made it's way across the Continent via the Roman or later Byzantine Empires, from Pontic Greek communities.  That is one possible route.

L1b homelands with Roman political boundaries circa 50AD

By Cplakidas - Based on Image:Arshakuni Armenia 150-en.svg. Province & client state outlines based on: Atlas of Classical History, Routledge 1985, pp. 160-162; History Map of Europe, Year 1 from Euratlas, CC BY-SA 3.0, https://commons.wikimedia.org/w/index.php?curid=6431799

Pontic Greek Colonies around the Black Sea

By George Tsiagalakis - Own work - background topographical map from Wikipedia Commons Image:Topographic30deg_N30E30.png, GFDL, https://commons.wikimedia.org/w/index.php?curid=38138202

My Y Haplogroup L-M20 Resource Post


Edit. 03 May 2016

I've listed the origin (and sometimes origin or ethnicity) of all of the L-M317 listed on the Y haplogroup L project at ftDNA.  Including both SNP confirmed, and predicted:

Ten from Turkey (two specified as Armenian)

Five from Georgia

Three from Chechen Republic

Two from Greece (one specified as Pontic Greek)

Two from Portugal

Two from Italy

Two from Armenia (one specified as Turkish)

One from Iraq (Assyrian)

One from Kuwait

One from Azerbaijan (Azeri)

One from Lebanon)

One from Bulgaria

One from Austria

One from USA (surname Ayers)

One from Romania

One from Russia (Tatar)

One from Cyprus (Austrian Tyrolean)

In addition to these M-317's, there is the Pontic Cluster (L-PH8 (FTDNA L-M317) YCAii = 17-21) of 56 individuals, many only low level STR tested to predict L-M20.  Some of them however, are tested down to M317.  They are mainly in Turkey, Georgia, Iraq, and Greece.  One however, was in Germany (surname Stiffler).

Where will our L-M317 fit in?  Which of these will turn out to be my nearest cousins?


The Iberian Connection

The above photo at A Capela dos Ossos (the bone chapel) in Évora, Portugal. The entire chapel is covered with human bones.  Every wall and pillar is decorated with skulls and bones.  On another wall hangs the mummified remains of a man and child, said to have been cursed. There is a sign at the entrance of the chapel which states "Nós ossos que aqui estamos, pelos vossos esperamos" (Our bones here, await yours).

Genetic Genealogy

I was a sceptic of genetic genealogy, I'll admit it.  Now I'm hooked.  Not because I feel that it has been a way of hooking up with distant cousins, that can help me extend my family tree.  That's not the way that I've used it so far.  Instead, it has provided very different kind of information, that helps me understand who I am, and how I can link my ancestry to known heritage.

I might not have been so hooked, but I've had so many surprises with my 23andMe results.  If my results had been perhaps, dire and boring, then maybe I would have retreated to traditional genealogy and regarded the technique as predictable and uninteresting.  However, what ancestry related surprises did I have?

  • I have a very rare Y haplogroup for NW Europe.  So far predicted to L1b M317.  It will be shared by my brother, my son, one cousin (and his son, and grandson).  Today I sent away a further FTDNA Y111 swab test.  The L haplogroup is mainly concentrated in Southern and Western Asia, from Afghanistan down to Southern India.  My L1b M317 sub clade is concentrated in Western Asia, including Eastern Turkey, Armenia, Georgia, Azerbaijan, the South Caucasus, and Western Iran. A faint trace of it along the length of the Med in Southern Europe, and across Italy, and a slight cluster in central Europe - which apparently, I don't belong to.
  • Autosome Ancestry composition by 23andMe, gave me a very low percentage of "British & Irish", and high percentages of "French & German" and "Scandinavian".  I've explored the possibility that this could reflect early medieval admixture from across the North Sea.  I've looked at the typical Ancestry Compositions of people with a strong recorded English ancestry, and compared them to the results from people with strong Irish ancestry.  That SE English people typically sit somewhere between the Irish, and typical Dutch in Ancestry Composition reinforces my view that this is the case.
  • My mtDNA was H6a1.  Not the most exciting haplogroup, but not the most boring neither.  It allows me to relate to the latest evidences for Eurasian Steppe admixture into Western Europe during the Early Bronze Age.

A Southern European Enigma

I captured the above photo at Cabo Espichel, Portugal.

There was a fourth, further surprise in my 23andme results.  It lay in the autosome.  23andMe AC (Ancestry Composition) on speculative mode, suggested 2.4% Southern Europe, including a prediction of 0.5% Iberian ancestry.  On speculative mode again, it falls on five pairs of chromosomes - but never on both sides.  On standard mode, 0.1% remains, just on one side of pair 21.  This suggests that all of it comes from just one of my parents.

I might think that this was just "background noise", an error in AC.  However, it keeps popping up.  Indeed when I upload my raw data to the program at DNA.land, they predict only 80% North/Central European, and a whopping 15% South European.  It doesn't stop there.  On GEDMATCH, the Eurogene calculators keep suggesting Iberian or South European admixture on their mixed population oracles.  Eurogenes K9 for example, gives me 61% North European, 29% Mediterranean, and 6% Caucasus.

Let's just refer back to my recorded paper ancestry.  I have 190 recorded ancestors, all in England, with English surnames.  No sign of any Roman Catholicism.  I have all sixteen of Generation 6 (G.G grandparents) named.  All born and named English.  No sign of any South European even in the 1,490 people on the entire family tree for my kids.

However, I think that all of the autosome ancestry calculators could be telling me a truth, that I can't see in my known family tree.  If I have a South European ancestor somewhere, whether Iberian or not, then either a) I have not yet found them, or b) they were the biological ancestor of a NPE (non-parental event), a cuckoo.  I have 3 out of my 32 Generation 7 ancestors unnamed - all absent fathers.  I have 15 missing ancestors in Generation 8.  Above that, the representation really starts to decline, although I have some ancestors named up to Generation 11.  Could a South European be in there?  23andMe in speculative mode suggested 2.4%.  That would seem "average" for an ancestor in Generations 7 or 8 (3 to 4 x G grandparent level)  Of course from around that point, "averages" become pointless, and subject to a randomness that can delete entire lineages further up from any surviving DNA.  None-the-less, I could have a South European from around that period - either one of the 18 "missing" ancestors, or a NPE cuckoo.

I'm commissioning a 23andme test for my mother.  Three reasons.  1) she wont be here for ever.  Recording her genome feels valuable and worthy.  2) I want to see how her very dense 100% recorded Norfolk ancestry projects on Ancestry Composition and on GEDMATCH.  3) I want to phase her results against mine.  It will tell me for example, where my "South European" DNA came from - which parent.  It will help me further understand my own genetic ancestry.

Our exotic Y Haplogroup L1b

A Y haplogroup is a genetic marker that is passed down on a paternal line.  From great grandfather, to grandfather, to father, to son, and so on it goes.  The mt-DNA haplogroup on the other hand, is a genetic marker on the maternal line.  Together, they represent only two lines of descent.  The below illustration demonstrates these two markers on our own family pedigree fan chart over recent generations:


What is exciting about these two human haplogroups, is that by recording their mutations, and plotting them both against both the geographical distributions of present-day populations, and of archaeological human remains, we can start to paint a picture of past movements and origins in population genetics across thousands of years.  We can start to see how some of our ancestors moved across the World during prehistory.  Haplogroups offer a personal touch.

My recent 23andme test reported that I have inherited an mt-DNA haplogroup H6a1 from my mother, and a Y haplogroup L2* from my father.  

My brother, sisters, and my sister's children should also share the mt-DNA haplogroup H6a1.  This mt-DNA haplogroup has recently been recognised as originating in Eurasia.  It mutated from earlier haplogroups from Central Asia.  Current thought based on recent evidence (2015) suggests that it was carried into Western Europe during the early Bronze Age, circa 5,000 to 3,500 years ago, by pastoralists that spread out of the Eurasian Steppes north of the Black Sea in the Ukraine and South Russia area.  These Steppe pastoralists have been associated with an archaeological culture known as Yamnaya, and H6a1 has been detected in female human remains there.  Archaeologists suggest that their success was in domesticating strains of horses, that they could ride, in order to manage larger herds and flocks of grazing livestock.  Another success may have been their development of wheeled carts, that could be horse drawn.  Whatever the factors were, they appear to have been so successful, that their descendants spilled out from the Steppes, dominating Bronze Age Europe.  Therefore based on current evidence and thought, it might seem fair to imagine that we have direct maternal ancestors that 5,500 years ago were women in this Eurasian Steppe Culture.  That is the personal touch of the haplogroup.

But what about the Y haplogroup L2* that we inherited from our father, and our paternal line?  My brother and my son should share this Y haplogroup.  I'm making this post to better understand this heritage.

Y Haplogroup L


Distribution Haplogroup L Y-DNA

Distribution of Y haplogroup L today.  Above image by Crates (Own work) [GFDL (http://www.gnu.org/copyleft/fdl.html) or CC BY-SA 4.0-3.0-2.5-2.0-1.0 (http://creativecommons.org/licenses/by-sa/4.0-3.0-2.5-2.0-1.0)], via Wikimedia Commons.

There were a number of surprises from my personal 23andMe DNA test results.  However, that my Y haplogroup is L2* was perhaps the biggest shock.  I take back all reservations that I had about DNA testing for ancestral purposes.

The 23andMe introduction that accompanied my reported Y haplogroup suggested "Haplogroup L is found primarily in India, Pakistan and the Middle East. The L1 branch is especially common in India, while L2 and L3 are more common further north.".  This is not an English haplogroup.  It is not even a European haplogroup.  It is regarded here as South Asian, spreading down from Afghanistan to Sri Lanka, and across from Iran and into Eastern Turkey.  The above map illustrates the distribution of the Y Haplogroup L as we presently know it.  However, the Y haplogroup L has sub groups, that until recently were designated as L1, L2, and L3.  These subgroups were not distributed equally across the above geographic distribution.

"M76 (current L1a1, former L1) is the most common subgroup in India, while M76 and M357 (current L1a2, former L3) have approximately equal weight in Pakistan. M317 (current L1b, former L2) is rare in the Indian subcontinent. Iran seems to have all three major subgroups, while Turkey appears primarily M357. Other papers have found additional markers. For instance, L1b can be divided into two subgroups, M247 and M349. The people who do not belong to L1 have not been studied in academic papers, but only in personal genetic tests. Their ancestry is European, but it is possible that this group is present in the Middle East or Caucasus, where few people have tested". (Marco Cagetti).

My actual 23andme (ISOGG 2009) assigned L2* mutation should, using the latest designations, be referred to as L1b or, L-M317. I am seeing suggestions that L-M317 may have originated as recently as 10,000 years ago, between Levant and the Iranian plain. My haplogroup L-M317 appears to be strongest in clusters across Western Asia, between Iran and Turkey, with reports in Iraq, Armenia, Georgia, Anatolia, the Chechen Republic, and the Russian Federation.  It is not South Asian.  Marco Cagetti suggests that it is at very low frequency in Southern Europe, less than 1%.  However, this table might suggest that there are stronger pockets of Y Haplogroup L in pockets across Italy.  It has been observed in Portugal, Spain, Italy, and along the Mediterranean.  A sub-clade, L-M317 M349, is found in the Levant, but also clusters in in Central Europe including Germany, Austria, the Czech Republic, and Switzerland.  M349 is subsequently believed to have originated in the Levant.

What about in England?  L1b doesn't appear to have been well documented or researched here.  The FTDNA Y Haplogroup L Project has mapped only three L submissions in the UK - including one undisclosed, one M349, and a single L-M317 - this one in the Basingstoke area, not a hundred miles from my surname carriers in South Oxfordshire.

The chances are, that my L1b will pan out to belong to the L1b1a M349 sub-clade.  It could relate the Rhine-Danube cluster recorded in Central Europe at the FTDNA Y Haplogroup L project.

So how did it get here?  Where do the European L1b's come from?   Some researchers suggest that it could actually be in quite old in Europe.  It could have spread westwards out of the Levant with the Neolithic Revolution, carried by the first farmers.  If this is the case, then it may have been severely displaced by the arrival of new waves of haplogroups that arrived in Europe later, during the Early Bronze Age, leaving just a few clusters to survive.  My Y could be a remnant of earlier European farmers, that were largely displaced by the same wave of haplogroups from the Steppes that carried my mt-DNA into Europe.

Alternatively, it may have arrived here any time later - during the Later Neolithic, or as is a popular theory, it could have been spread into Europe from the Pontic Greek clusters around the Black Sea, or from elsewhere, via the Roman Empire.  It may have even spread into Europe during the medieval.  Some people suggest Byzantine movements in Southern Europe as one possible source.  Others claim links between their L1b and Ashkenazi Jews in their ancestry - either known, or suggested by autosome ancestry composition testing.

It has been suggested that I commission a BIG Y test, but I cannot justify that cost. I think that it is worthwhile commissioning a Y STR test, in order to examine and provenance it. Then should future research bring up any new understanding, I'll be able to best place our lineage within it.  I've ordered the FTDNA Y111 test next.

The 23andMe DNA results are in!

The results were uploaded to my 23andMe profile today.  I posted/registered the sample from the UK, nine weeks ago.  The sample traveled to the USA lab via a NL holding depot.  It took six weeks to process the sample and results, from the time of being marked as arriving at the USA lab.  I feel very fortunate, as many 23andMe customers are reporting a seasonal log-jam that is delaying the process.  My results though were comfortably within the proposed time frame.

There were a number of pleasant surprises.  The results were far from boring.  

Genetic Risk Factors

On the health side that we UK customers can presently still enjoy - there was only good news.  Although I have a family history of Alzheimer's that is strong on my father's side, there was no identification of any genes in my DNA, that have so far been associated with increased risk of the illness.  If my father did have these genes, I didn't receive them.  It does not mean that I will never be at risk to the illness, but it gives me some comfort.  Indeed, all of my 23andMe genetic risk factors were good.  There was no bad news.

Traits

An amusing little trait, that IS identified by the DNA analysis, is on Asparagus Metabolite Detection.  When I eat asparagus, my urine smells strongly.  It confirms for me - that the system works!  It also correctly identifies that I have a sweet tooth, that I have blue eyes, etc.

Now to the genetic genealogy goodies.

Ancestry

Y-DNA

The genetic marker that I inherit from my strictly paternal lineage - father's father, father, and so on, going back.  On paper, I've traced this back to a John Brooker, that lived in Oxfordshire, but was born outside of that county, perhaps in nearby Berkshire, circa 1785.  Of course, that is if no-one ever lied in forms over who the father was.

This one was a shocker.  A little background first.  Although my paper ancestry over the past 350 years is overwhelmingly localised in parts of the county of Norfolk, in East Anglia, my paternal-line surname carrier, that should be the donor of my Y chromosome marker, or Y-DNA, can be traced to Oxfordshire, in Wessex.  Out of my eight paper great grandparents, seven were Norfolk born and bred.  However, the exception was my paternal great grandfather.  Therefore I would not expect my Y-DNA to belong to any local Norfolk gene-pool.  It is the least representative lineage for my heritage.  This is why I feel that people can sometimes place too much value on their haplogroups.  I did however, expect it to belong to a common English or British haplogroup such as the Y-DNA R1b group.

I was in for a surprise.  It is exotic L2*.

From initial research including an Internet search, this haplogroup forms only a rare back scatter across Europe.  It appears more commonly across Western Asia and the Sub-Continent, from Turkey to Southern India.  It is most common in Pakistan, where it may originate, circa 30,000 years ago.  It is not a common European Y-DNA haplogroup.  I need to more carefully research this in the near future, but I'm in awe to find that I have an exotic Y-DNA.  It does conjure up images of one of my paternal ancestors being a Syrian archer, or Persian mercenary in the Roman Army, fathering a child, while stationed in Britannia, or perhaps elsewhere in Roman Europe.  But that might be too fanciful.  Anyway, I'm having pheasant curry for dinner tonight.

This genetic marker should be shared with my son, and my brother.  A few of my first cousins will also have it.

mt-DNA

The genetic marker that I inherit from my strictly maternal lineage - mother's mother, mother and so on back.  On paper, I've traced it back to a Mary Page, who was born in 1802, in Norfolk.  I like the maternal line, as it is actually the most biologically secure.  Few forms lie about who the mother is.  I'd expect my mt-DNA to be a haplogroup firmly established in East Anglia.

A nice one to have.  It is H6a1.

This haplogroup belongs to the Helena group.  However, it is not ancient European.  H6 is believed to have mutated from H around 30,000 years ago in Central Asia.

H6a1 has recently been associated with the Yamnaya migration into Western Europe, from the Eurasian Steppes to the north of the Black Sea, some 4,000 to 5,500 years ago.  In Europe itself, it could be associated with a number of Early Bronze Age cultures, the Corded Ware culture.  It has been linked with the R1b Y haplogroup, that dominates Western European countries such as Ireland, France, and the British Isles.  Recent studies have indeed suggested a significant displacement of people in Western Europe, that occurred in late prehistory, with the arrival of pastoralists from Eurasia.  This migration is also associated with the rise of the dominant Indo-European linguistic group of Europe.  If H6a1 does indeed prove to be linked to the Indo-European explosion of the early Bronze Age, I'd be very happy.  I like to imagine one of my maternal ancestors 5,500 years ago, accompanying a band of prehistoric pastoralists, that are heading westwards into Europe with their horses.

This genetic marker will be shared with my mother, my brother, my sisters, and their children.  A few cousins will also share it.

Ancestral Composition

This is an area that I've been trying to understand recently.  It uses computer analysis, to compare my autosome DNA to a number of others in reference populations from around the World, which then composes suggested ancestry in percentages.  This magic attempts to look not at a few genetic markers or haplogroups, but at all of the patterns in my autosomal DNA, to predict likely ancestry on any lineages that survive in my DNA.

Previous to receiving my results, I recently revised and bolstered up my paper genealogy based family tree,  I now have 172 direct ancestors listed, going back to Generation 14 during the 17th Century.  I noted that all, and everyone of my paper recorded ancestors were English.  All of them.  That includes all of my eight grandparents, all of my sixteen great great grandparents, and thirty of my thirty two great great great grandparents.  That is 100% English.

Now, I'm sure that you'd agree, I should be expecting my 23andMe ancestry composition to give 100% English, right? Well no.  They can't presently identify an ethnic group like the English.  Instead, I should expect my results to fall 100% into the British & Irish category.

100% British & Irish?  No, I'll give this one early.  it was 32% British & Irish on speculative mode.  More on this further down.

My paper research before I received my results also revealed just how concentrated, most of my ancestry has been over the past 350 years.  I compiled the below map of East Anglia.   The BLUE marking the places of ancestral events from my family tree on my father's side; and the RED marking the places of ancestral events on my mother's side.  The larger the marker, the more events recorded.

I also made a map based on East Norfolk during the 4th Century AD, before sea levels fell, and drainage changed the coastline.  I then marked out the area of my mother's ancestry on that.

 The point that I was trying to make was that I believe that my ancestry may have been more exposed to the North Sea Immigration waves of the 4th to 11th centuries AD.  More exposed than your average person of British & Irish heritage.  I also suggested that East Anglia, very much a part of the North Sea World, was particularly attractive to Early Medieval migrants from Frisia, Schleswig-Holsten / Angeln, North Saxony, and from Denmark.

On reviewing the 23andMe DNA Ancestry Composition of an admittedly small sample of other users with strong English heritage, I concluded that the average ethnic English person receives the results:

100% European

60% British & Irish

10% French & German

2% Scandinavian

25% unidentified broadly NW European

People of Irish heritage, or even Americans with either Irish or British ancestry, tend to score a higher percentage of British & Irish than do the present day ethnic English.  23andMe has a generous and growing reference population in it's British & Irish database.  However I hypothesised that 1) the 23andMe B&I reference is skewed to the Irish, and away from English.  It is also possible that it is distorted by a case of genetic drift by testing Americans of British origin.  2) that the British & Irish designation may actually be inadvertently looking at DNA that arrived in the British Isles largely previous to the early medieval North Sea migrations.  To the British and Irish genes that have been here since late prehistory.  On the other hand, the French & German, the Scandinavian, and perhaps some of the undesignated Broadly NW European percentages that are usually assigned to the ethnic English, may actually reflect early medieval migration from across the North Sea.  The computer analysis is simply unable to distinguish some of the DNA from that of present day French, Germans, or Scandinavians, because of ancient admixture.

I'm told that this would not be the case, that 23andMe ancestral composition could not detect such deep, ancient admixture.  However, what if I am correct about my own heritage - that I likely have enhanced levels of Anglo-Saxon and perhaps Norse heritage, because of the geographical location of so many of my ancestors?  Should I not expect even lower percentage of the 23andMe British & Irish category, and even higher percentages of other NW Europeans from across the North Sea?  So what was my 23andMe ancestry composition percentages (speculative mode)?

100% European.  Broken down into:

94% NW European.

3% South European.

I'll get to the South European later, but what about this North west European?  Let's break it down into 23andMe's sub categories:

32% British & Irish

27% French & German

7% Scandinavian

29% undistinguished broadly NW European

Oh my goodness.  It correctly fits my prediction.  I have more than double the average percentage of F&G and Scand for English people.  Despite having a paper researched genealogy that is 100% English, 23andMe's ancestry composition based on a generous reference sample size of 1251 sets, gives me 32% British & Irish.

So a predicted, but still incredibly exciting result.  I'm chuffed to bits.  It does in my eyes, blow 23andMe's British & Irish designation out of the water though.  Their reference samples do not appear to match the East English.  Instead, their software misreads some of the English DNA for French & German, or Scandinavian.  I'm suggesting that this is because of ancient admixture, during the 4th to 11th centuries AD, with North Sea immigration.  I invite others to knock my suggestion down.

One more surprise from my Ancestry Composition:  A South European 2.7%.  Broken down into 23andMe's sub categories:

0.5% Iberian

2.4% undistinguished broadly South European

This looks real.  It appears that I have a small percentage of South European heritage.  Most likely from Spain, Portugal, or Basque.  I probably have Iberian ancestry that I have not yet detected using paper genealogy.  Either that, or it's an anomaly, a incorrect interpretation.

Neanderthal Ancestry

Finally, how much Neanderthal DNA do I have?  How much of my DNA was shared by the archaic humans that lived across parts of Eurasia, between 350,000 to 30,000 years ago?  Evidence of early admixture events between Neanderthal and anatomically modern human populations?

An estimated 2.9%.

That's just slightly above the average of 2.7% for modern Europeans.  So I am not more Neanderthal than most others.  Sorry to disappoint.

All in all, very happy that I spent the money.