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.

A Day at the Record Office

I took the above photograph of Besthorpe church graveyard, a few weeks ago on Rollei Retro 400S film, that was loaded in an Olympus XA2 camera, then developed in Ilford LC29 chemistry.

Well that was fun.  Five hours in a stuffy archive centre, wheeling through microfilms, with not much to show for it other than sore eyes.

I'm still concentrating solely on that mtDNA line - my strict maternal line.  I had got back to my G.G.G Grandmother, Sarah Daynes (nee Quantrill).  She stated on several censuses that she was born around 1827 at Wymondham, Norfolk.  She most likely was the thirteen year old family servant, Sarah Quantrill, employed during the 1841 census in the Long household at Wymondham.  It looks like she had to look after forty year old James Long, a farmer, and several of his children, some a similar age to her.  She went on to marry Reuben Daynes at Besthorpe, Norfolk on the 26th April 1849.  She appears to have remained at Besthorpe for most if not all of her remaining life.  Turnpike Road Cottages, to be precise, which I believe to be close to Morley and Wymondham.  Her husband Reuben, was a labourer, still employed in at the age of seventy.  He lived to a good old age, although by the age of 78, he was forced to turn to parish relief.  They were still living at Turnpike cottages in 1901.

So, we know by census that mtDNA G.G.G Grannie Sarah was born circa 1827, at Wymondham, and that her father was a labourer named Robert Quantrill.  I slowly scanned through the Wymondham baptism registers from 1813 until nearly the late 1830s.  Wymondham had a lot of babies.  Surely, by reason of thought, I should find the baptism of Sarah, and perhaps some siblings?  That would be the normal next step.

Nope, nada.  I wasted hours.  Although I know that there are splashes of the Quantrell/Quantrill/Quantrele surname around mid Norfolk (Bunwell and sometimes Norwich crop up on searches), it didn't crop up much in the Wymondham parish registers.  Which can also be a good thing.However, in this case, I found a mere five of them, and none particularly helpful.

  • One daughter of a Richard Kett and Sarah (nee Quantrill) in 1822
  • One daughter of a William Quantrele and his wife Ann (nee Blake) in 1824
  • Two daughters in 1826 and 1827 of a John Starling and his wife Maria (nee Quantril).

So where the hell were their children, or at least mtDNA Sarah, baptised?  I can immediately think of three top options to research, but they are not easy:

  • Nonconformist.  I have a hunch though, that they were not.
  • A nearby parish - but so many possibilities!  I could be looking for months or years.
  • Something happened to the family, such as moving far away for years, or death / break up - hence Sarah working as a servant at thirteen years of age.

Then, just before I had to go and walk a mile to move the car before I got a ticket, I quickly glanced through the Wymondham Marriage Register, and I found:

Robert Quantrill bachelor of this parish & Mary Page of this parish by banns 12th October 1818.

G.G.G mtDNA Grannie Sarah, born nine years after that marriage, claimed that she was born in Wymondham, and also claimed that her father was a Robert Quantrill.  They fit, it is so tempting, that I have provisionally claimed Mary Quantrill (nee Page) to be my next generation back, my G.G.G.G mtDNA Grannie.  However, it's not good paper genealogy.  Really I need to verify her as a direct ancestor.  I could have the wrong couple, or it could have been the right Robert Quantrill (the only Robert Quantrill so far spotted in Wymondham), but an earlier marriage.  I at least need to see Sarah named as the daughter of a Robert & Mary Quantrill, born of them around 1827, perhaps in Wymondham or nearby.  This would be pre-state birth registration, and before anything I can find on a census.  I can't find her or any siblings in the Wymondham baptism registers, so where next?  I need her baptism.

On the positive, I'm making some progress.  Before my recent campaign, all of my mother's recorded ancestors had been very much East or Broadland Norfolk.  That is where her autosomal DNA would largely originate for I suspect, many centuries.  Quite interesting, because the Far East of East Anglia is where some researchers such as Stephen Oppenheimer, have suggested the strongest genetic evidence of Anglo-Saxon admixture.  Place-name evidence there also strongly suggests Danish Viking  settlement.  The shores of East Anglia were the places where immigrants were most likely to beach.  I have also previously read that the sea levels dropped very slightly around the eighth century AD, making areas such as Norfolk Flegg, easier to drain for settlement by immigrants from across the North Sea.

And yet, my mtDNA line skips away from that Eastern fringe, into South Norfolk.  I didn't expect that.  In Besthorpe, it is only a parish away from some of my father's autosomal ancestors at Attleborough, and not so far away from his mtDNA at Hedenham in South Norfolk.  My parents grew up in very different districts of Norfolk, at least thirty miles apart, with the City of Norwich in between.  Yet follow the genes back, and you can start to see how earlier admixture between their ancestors could well have taken place within the past five hundred years.  The recent POBI (People of the British Isles) genetic survey (2015) suggested that despite admixture from many waves of immigration going back over thousands of years, that the present day English are very homogeneous.  The same survey also said that the patterns of the old Anglo-Saxon kingdoms still show on their genetic map.

I've only followed the mtDNA line back five or six generations so far.  However, I can't help noticing that it is swirling around South and East Norfolk.  It is more mobile than many of the autosomal lines.  Perhaps women were more likely to move over the past few centuries to new parishes, to their husbands?

I say swirling - I have got back so far to Wymondham.  That is the same South Norfolk market town that my parents retired to.  I even lived there for a while.  My mother, my sister, my niece, who all share my mtDNA, still live there.  Yet no-one was aware that we had ancestors there in the town.