The Southern European DNA enigma. Option 2. The DNA is Ancient.

The above photograph taken by me, of Neolithic skulls from the Tomb of the Sea Eagles, Orkney.

I'm not the only English person reporting "Southern European" on their Autosomal DNA for Ancestry test results.  I've noticed that on 23andMe, for example, that English often report these strange low percentages of "Southern European" in their ancestry composition results.

There may be something odd about the ancient ancestry of the English, that we do not yet know.  Others have also pointed out that in ancient admixture calculators, that the English receive lower percentages of ANE (Ancient North Eurasian) than do the Irish, Scottish, or other nearby neighbours.  POBI (People of the British Isles 2015) suggested a unknown immigration into Southern Britain during Late Prehistory perhaps from the area that is now France.

Some point to perhaps, more Neolithic survival in lowland Britain, relating perhaps to Sardinian patterns.  Others suggest immigration from Southern Europe and elsewhere during 360 years of Roman occupation.

Option 2 is a possibility - perhaps these is something about English ancestry that we do not yet know about, that confuses the algorithms of commercial DNA companies, when trying to identify our more recent ancestry.

Revisiting Southern European for Ancestry

This photo of A Capela dos Ossos (the bone chapel) in Évora, Portugal.  Taken by myself.

First, a recap

I'm English by ethnicity, birth, upbringing, known family history, and by record.  That record, I've researched on and off for more than 25 years, primarily in record offices, but in more recent years also online.  On my personal database I presently have 207 direct ancestors recorded.  All lived in Southern England, with the majority in East Anglia.  All appear to have English surnames.  All recorded religious denominations, English.  The majority were rural working class.  I have a typical English ethnicity and phenotype.  My recorded genealogy stretches back at the furthest to the 1680's.

I'd expect some admixture in there.  I know from my Y-DNA that I have Asian admixture from between 500 and 1,800 years ago on my paternal lineage.  Surely some Hugeonauts, Strangers, Romany, or others at some point.  However, a rare and single event on one line of ancestry doesn't hang around very long in autosomal DNA.  It can be washed out very quickly by genetic recombination - as my Asian, as detected by my Y-DNA, has been.  You should only really see significant traces of admixture, when it is either recent (within the past few hundred years at most), or entered on multiple lines of ancestry.

Therefore, I'd have expected a commercial Autosomal DNA test for ancestry to come fairly close to 100% for British, or even English.  But instead, so far, I've received:

From 23andMe Ancestry Composition in Speculative mode, before any phasing with mother alone:

32% British & Irish
27% French & German
7% Scandinavian
29% Broadly NW European
2% Broadly Southern European (including 0.5% Iberian)

and after phasing with one parent:

37% British & Irish  (23% from father, 14% from mother)
22% French & German  (12% from father, 10% from mother)
1% Scandinavian  (from mother alone)
36% Broadly NW European  (23% from father, 13% from mother)
2% Broadly Southern European (1% from father, 1% from mother)

From FTDNA Family Finder My Origins, I recently received:

36% British Isles
32% Southern European
26% Scandinavia
6% Eastern Europe

Wegene using my 23andMe raw data gives me:

81% French
19% British

DNA.land using my 23andMe raw data gives me:

77% Northwest European
19% South European broken into 13% Balkan and 6% Central/South European
2% Finnish
1% ambiguous West Eurasian.

GEDmatch Eurogenes K13 on Oracle using my FT-DNA raw data gives me as my nearest Genetic Distance:

Southeast English 3.75 GD

On Oracle 4 I get as my nearest single population Genetic Distance:

Southeast English 4.28 GD

Best three way on K13 Oracle 4 mix is:

50% Southeast_English +25% Spanish_Valencia +25% Swedish @ 1.86 GD

Eurogenes K13 does often suggest Iberian references for admixtures on my results further down the proposal list.  Still, thumbs up for Eurogenes K13!  It gets me as Southeast English correctly!

So... 23andMe claims that I have 2% Southern European and that it comes from both parents, although before phasing, it hinted at Iberian.  FT-DNA claims that I have a whopping 32% Southern European!  DNA.land claims that I'm 19% South European, but Balkan with some Italian, rather than Iberian!  Eurogenes K13 Oracle 4 suggests that if I do have admixture, that it most likely includes Iberian.  My family tree has no evidence of any Southern European people, names, or any Catholicism, etc.  Confusing or what?


FTDNA (Family Tree DNA) My Origins Autosome Test for Ancestry

I know I should have smiled!  Me, myself sitting outside of the archaeology museum earlier this year, at Sofia, Bulgaria.South-West Europe.

FT-DNA Family Finder My Origins

I haven't posted much coherent lately, because, well, my Life changed, and consequently I've been pretty busy, in a very good way.  However, my exploration into genetic genealogy hasn't ceased at all.  Indeed, I took advantage of the Family Tree DNA (FTDNA) Summer sale, and bought the USD $79 Family Finder test.

No need to send a fresh sample, this was the third test from the sample that I sent to FT-DNA's US lab earlier this year.  FTDNA Family Finder is an autosomal DNA test only, without haplogroup results - but I've tested my Y-DNA to death already, and I know my mtDNA haplotype.  The services supplied include relationship matching, raw file download, and an Ancestry analysis named My Origins.  Hey, for that price, in GBP £, that is el cheapo good value.  And it's a good test, with about 690,000 SNPs tested, against 23andMe's current 577,382.  Smoking.

My prime interests was in 1) comparing the raw data with 23andMe on GEDmatch, and 2) seeing what FTDNA My Origins has to say about my autosomal DNA for ancestry.

So what did I find.

The former, comparing raw data files, I've done.  But briefly, the calculators DO vary for the two files, but not by very much - except maybe, that on Eurogenes K13, the nearest GD on my FT-DNA file is closer to correct - putting SE English closer this time than South Dutch.

The latter?

Family Tree DNA reported My Origins as:

100% European.

Broken into:

36% British Isles
32% Southern Europe
26% Scandinavia
6% Eastern Europe

This is a pretty bizarre result.  36% almost hits dead on my 23andMe Ancestry Composition (spec) result for British Isles (32% before phasing, 37% after phasing with one parent).  Perhaps they are using a similarly biased reference?  I'll blog on that soon as well.

26% Scandinavian is massive.  23andMe AC spec reported 7% before phasing, and 2% after phasing with one parent.

That's pretty much my first report for Eastern European, except for DNA.land's claim of some Balkans (hence my excuse for the above photograph).

but .... 32% Southern Europe, really?  Let's go there next, off to Southern Europe now:



Family Tree DNA Family Finder data V 23andMe raw data on GEDMATCH

Background

I'm South-east English in known paper ancestry, ethnicity, and heritage - mainly Norfolk East Anglian, where I still live, close to many known ancestors. I have 207 recorded ancestors on my tree, over the past 380 years. The majority lived in Norfolk, but some were Oxfordshire, Lincolnshire, Suffolk, and Berkshire. All appear to be English, with English surnames, English religions and denominations, overwhelmingly East Anglian:

Generation 1 has 1 individual. (100.00%)

Generation 2 has 2 individuals. (100.00%)

Generation 3 has 4 individuals. (100.00%)

Generation 4 has 8 individuals. (100.00%)

Generation 5 has 16 individuals. (100.00%)

Generation 6 has 29 individuals. (90.62%)

Generation 7 has 51 individuals. (79.69%)

Generation 8 has 47 individuals. (36.72%)

Generation 9 has 36 individuals. (14.84%)

Generation 10 has 10 individuals. (2.34%)

Generation 11 has 4 individuals. (0.39%)

Total ancestors in generations 2 to 11 is 207

I have previously tested 23andMe, FTDNA Y111, and FTDNA Big Y. My Y line is unusual, because it does originate in Western Asia, within the past few thousand years (L1b2c). However, there is no evidence of anything but European in any autosomal tests so far, so other than the Y, it appears to be washed out.

My 23andMe AC in spec mode (after phasing with one parent) is:

100% European

96% NW European

2% South European

2% broadly European


37% British & Irish

22% French & German

1% Scandinavian

36% broadly NW European

2% broadly South European


FTDNA Family Finder - My Origins


36% British Isles

32% Southern European

26% Scandinavian

6% Eastern European

I thought that it would be interesting to compare how a few important GEDMATCH calculators, see my raw data from Family Tree DNA, in comparison to the raw data from 23andMe:

GEDMATCH

23andMe raw data V ftDNA raw data

Eugenes K13 Oracle

23andMe data

Admix Results (sorted):

# Population Percent

1 North_Atlantic 47.58

2 Baltic 22.36

3 West_Med 15.65

4 East_Med 8.03

5 West_Asian 3.05

6 Red_Sea 1.42

7 Amerindian 0.74

8 South_Asian 0.71

9 Oceanian 0.46


Single population Sharing:


# Population (source) Distance

1 South_Dutch 3.89

2 Southeast_English 4.35

3 West_German 5.22

4 Southwest_English 6.24

5 Orcadian 6.97

6 French 7.63

7 North_Dutch 7.76

8 Danish 7.95

9 North_German 8.17

10 Irish 8.22


Family Tree DNA data

Admix Results (sorted):

# Population Percent

1 North_Atlantic 47.89

2 Baltic 22.68

3 West_Med 15.45

4 East_Med 7.41

5 West_Asian 3.11

6 Red_Sea 1.38

7 South_Asian 0.84

8 Amerindian 0.72

9 Oceanian 0.52


Single Population Sharing:


# Population (source) Distance

1 Southeast_English 3.75

2 South_Dutch 4.03

3 West_German 5.42

4 Southwest_English 5.68

5 Orcadian 6.33

6 North_Dutch 7.15

7 Danish 7.36

8 Irish 7.59

9 West_Scottish 7.62

10 North_German 7.7


Euogenes EUtest V2 K15

23andMe data

Admix Results (sorted):


# Population Percent

1 North_Sea 33.42

2 Atlantic 27.98

3 West_Med 12.24

4 Baltic 10.42

5 Eastern_Euro 7.04

6 West_Asian 3.52

7 East_Med 3.14

8 Red_Sea 1.48

9 Amerindian 0.39

10 Oceanian 0.19

11 South_Asian 0.18


Single Population Sharing:


# Population (source) Distance

1 Southwest_English 2.7

2 South_Dutch 3.98

3 Southeast_English 4.33

4 Irish 6.23

5 West_German 6.25

6 North_Dutch 6.79

7 West_Scottish 6.84

8 French 6.85

9 North_German 6.89

10 Danish 7.26


Family Tree DNA data

Admix Results (sorted):


# Population Percent

1 North_Sea 33.81

2 Atlantic 28.23

3 West_Med 12.04

4 Baltic 10.59

5 Eastern_Euro 6.84

6 West_Asian 3.66

7 East_Med 2.47

8 Red_Sea 1.46

9 Amerindian 0.35

10 South_Asian 0.31

11 Oceanian 0.25


Single Population Sharing:


# Population (source) Distance

1 Southwest_English 2.29

2 Southeast_English 4.02

3 South_Dutch 4.48

4 Irish 5.78

5 West_Scottish 6.41

6 North_Dutch 6.43

7 West_German 6.63

8 North_German 6.73

9 Danish 7.01

10 Orcadian 7.19


Gedrosia Eurasia K6 Oracle

23andMe data

Admix Results (sorted):


# Population Percent

1 West_European_Hunter_Gartherer 39.18

2 Natufian 38.8

3 Ancestral_North_Eurasian 20.85

4 Ancestral_South_Eurasian 0.82

5 East_Asian 0.35


Family Tree DNA data

Admix Results (sorted):


# Population Percent

1 West_European_Hunter_Gartherer 39.57

2 Natufian 38.66

3 Ancestral_North_Eurasian 20.75

4 East_Asian 0.86

5 Ancestral_South_Eurasian 0.16

Y Haplogroup L Resource page

Distribution Haplogroup L Y-DNA

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.  Unmodified.

Introduction - Y-DNA, Haplogroups, SNPs, Haplotypes

The Y chromosome, and it's Y-DNA, are copied from father to son, down a strictly paternal lineage.  If I were to trace my entire direct ancestry back, I have two parents, four grandparents, eight great grandparents, sixteen great great grandparents.  Yet out of those sixteen great great grandparents (generation 5), who were born only circa 160 years ago, only one carried the Y-DNA that was passed down to me.  My eight great great grandmothers did not not inherit a Y chromosome from their fathers.  Most likely, my other seven great great grandfathers, carried distinctive differently marked Y-DNA.  Yet all sixteen biological great great grandparents have contributed to my overall atDNA (autosomal DNA).  Only one gave me my Y-DNA.  So you can see that Y-DNA represents only one narrow lineage.

Y-DNA, may on the face of it, appear to offer a limited understanding of total biological ancestry.  All sixteen of my great great grandparents were direct ancestors, not just the Y great great grandfather.  However, this lineage offers us evidence that can be genetically tracked, then mapped into relationship.  It could be done to ascertain parental, or non parental events.  It can be used to check the biological validity of relationship to cousins.  As more people investigate and record their haplogroups, haplotypes, STR markers, and SNPs, so we can for example, start to use them to map biological relationship further back.  Y-DNA is particularly useful, not only because of it's markers, but also because it can be plotted to surname studies.  In Western societies, the surname often follows the Y lineage for several generations.

However, Y-DNA (nor the maternal mtDNA) evidence doesn't just stop there.  As more people investigate, submit, and record their data from around the World - and as anthropologists and archaeologists add ancient DNA data from ancient and provenanced human remains to that record, so we can build and plot a world map of the human family, how it relates, how it was distributed globally throughout prehistory.

Both Y and mt DNA carries mutation markers, that define a HaplogroupA haplogroup is a family of shared descent.  These haplogroups are ancient.  The paternal Y-DNA haplogroup that this resource page is dedicated to has been designated as L.

However, mutations do not stop with the formation of a new haplogroup.  They continue through the generations.  As lineages divide between different sons, across many generations, so these mutations in the Y-DNA for example, continue to accumulate down the diverging lineages that once shared common descent.  We are all unique.  The sub clade of L that this page focuses on is L1b.  All male carriers of L1b will carry a SNP (Single Nucleotide Polymorphism) on their Y-DNA that has been designated as M317. This SNP will be downstream of another SNP that has been designated as M22.  Finally, a Y-DNA can be said to have a terminal SNP.  A terminal, refers not to the Haplogroup (in this case L), but can be used to define right down to the last SNP on the Y-DNA, that is shared with others on a record.  If someone for example, carries Y-DNA that is proven (or predicted by comparison) to be Y Haplogroup L, and to carry M317, then their Y terminal could be designated as L-M317, or alternatively, as L1b.  This is also sometimes referred to as a haplotype.  However, a haplotype can also refer to a particular STR.

Y Haplogroup L M20

The above image illustrates a modern day distribution of Y Haplogroup L (M20) as proposed and created by Anthropogenica user Passa.

Y Haplogroup K formed from Y Haplogroup IJK in the Y-DNA 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 these Y ancestors live at that time?  We think that they lived in Western or Southern Asia.  Iran is a favourite proposal. 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 modern humans were arriving in Australia.  The Ice Age was in a flux, but glaciation was advancing.

The 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 Syria, Iraq, Iran or Pakistan.  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.  Some of these Upper Palaeolithic, Ice Age hunter-gatherer refuges may have been close to the Black Sea, others close to the Caspian Sea, but they were most likely located somewhere between Eastern Anatolia, and Eastern Iran, south of the Caucasus.

L1 / L2 Divergence - the Odd L2's

The oldest divergence within Y Haplogroup L.  L1, as characterised by the SNP M22, diverged from L2, as characterised by the SNP L595.  L2 was only recently discovered, and forced an ISOGG revision of Y Haplogroup L and it's nomenclature that is still causing problems.  In this article, unless stated otherwise, I am using 2017 Nomenclature.  L2 or L-L595 is very rare, but has so far cropped up sporadically across Western Eurasia, including in Azeribaijan, Turkey, Sardinia, England, and Tartaristan.

That is L2 dealt with.  However, most Y Haplogroup L falls into L1. Let us start to look at the main branches of L1.  Remember, L1 is defined by the SNP M22:

Unofficial proposed tree for L1 (L-M22) 2016.  By Gökhan Zuzigo, modified by Paul Brooker.

Proposed Migration Map of L-M22 (L1) by Phylogeographer at https://phylographer.com/mygrations/?

The Big L1 Split - L1a and L1b

As can be seen above, this split occurred around 18,400 years ago, possibly somewhere between what is now Iran and Pakistan.  The L1a branches inherit the SNP M2481, and the L1b branches inherited M317.

First of all, let's look at L1a, because although it is not my sub clade, in terms of modern day population size, it appears to greatly outnumber any other L sub clade.

Pakistan and India - Present Day Home of L1a1 and L1a2

L1a splits again into two sub clades.  The split occurred around 17,400 years ago.  L1a1 (L-M27) and L1a2 (L-M357)

L1a1 (L-M27)

Defined by SNP M27 (on older nomenclature as still used by 23andMe, this was formerly L1*) is mainly found in India, particularly South West India, and in Sri Lanka. This is perhaps the most populous modern day L sub clade, found in 15% of Indian males.  However, it is not restricted to India, and has also been found in 20% of Balochi in Pakistan, and has also been reported in Kirghiz, Pashtun, Tajik, Uzbek, and Turkmen males across Central Asia.

L1a and L1a1 (L-M27) at Birds Eye Cave, Armenia 6161 years before present.

Ancient Y DNA from the Copper Age has emerged from this location in Armenia, and included L1a, and L1a1.  This might suggest, that although very successful today in India and Pakistan, that it has a Western Asian origin.

L1a2 (L-M357)

Has defined by SNP M357 (on older nomenclature as still used by 23andMe, this was formerly L3*).  This sub clade is mainly found in Pakistan, but also Saudi Arabia, Kuwait, The Chechen Republic, Tajikistan, India, and Afghanistan.  It has been found at 15% in Burusho populations, and at 25% in Kalash populations.  It is much more common in Pakistan than in India.

So, the L1a sub clades - spreading down into Southern Asia, and accounting for potentially millions of Y Men there.  Far more than any other branches of Y Haplogroup L.  However, Southern Asia is unlikely to be the origin of L.  That origin is more likely, as stated earlier, to be the place with the most diversity in branches.  That points more towards again towards Western Asia.  It's just that ancient carriers of L, appear to have been particularly successful in Southern Asia, and to have fathered more sons there.

L-M317 or L1b of Western Asia

We now move onto the branches of particular interest to myself, because I carry a Y Haplotype that belongs here.  L1b is defined by the SNP M317, that formed circa 18,400 years ago, most likely in the area of modern day Iran, or elsewhere in Western Asia.

Phylogenetic tree of L1b by Anthrogenica user Caspian (with permission):

Click on above hyperlink for full sized image

L1b is mainly distributed across Western Asia, from modern day Turkey, across to Pakistan.  However, as we will see, it also spreads in low densities across parts of Europe.  it is very much, the "Western L".

The Next split - L1b1 or L-M349.  The Levant, and Europe!

Around 14,000 years ago, another split occurred in the L1b (M317) branch. A new SNP, M349, defined L1b1.  Today, L1b1, or L-M349, is found in Western Asia, in Lebanon, Syria, Turkey, Armenia, etc.  However, it is also found scattered in low densities through parts of Europe.  It crops up in South Europe, often close the the Mediterranean Sea, including particularly in parts of Italy.  It also forms a light cluster in Central Europe.

A working map of Y haplogroup L sub clades by Edward Chernoff.  This map is incomplete, but is published here with permission of Edward Chernoff.  Copyrights applied.

Branching away from a common Y ancestor with L1b1 (M349), is another 14,000 year old line defined by SNP SK1412, L1b2.

L1b2 (L-SK1412) splits - Pontic Greeks, and the others...

13,000 years ago,, during a cold stage towards the end of the last Ice Age, the L1b2 (SK1412) Y branch divides again.  Very recent research suggests that it split into three lines: L-SK1415 (L1b2a), L-PH8 (L1b2b), and L-SK1414 (L1b2c).

L1b2a (L-SK1415), has as far as I know, only been detected in a Makrani Balochi survey in SW Pakistan.

L1b2b (PH8), is found in Turkey, Greece, Armenia, Chechen Republic, Iraq, etc.  It is associated particularly with the Pontic Greek ethnicity from Eastern Anatolia, and around the Black Sea.  A further division within PH8 has been detected at around 3,000 years ago.

Finally ... mine:

L1b2c (L-SK1414, FGC51074), has so far been SNP detected only in Makrani Balochi, in SW Pakistan, Gujarat, India, Turkey, Cyprus, Saudi Arabia, Lebanon (Druze), and in England. STR predictions for L-SK1414 have also been found in Goa, Syria, Iraq, Kuwait, UAE, Tartaristan, France, Italy, Iran, and Azores.  In addition to SK1414, I have with the assistance of Gareth Henson, a FT-DNA Big Y test, accompanied by further analysis of their raw data, by Yfull, and FullGenomes, ascertained 117 novel SNPs looking for first time matches.  As can be imagined, I'm very keen that further L Y-Men should test.

Distribution may be connected to the dispersal of the recently identified group known as the Iranian Neolithic Farmers after 10,000 BCE:

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5113750/#:~:text=We%20sequenced%20Early%20Neolithic%20genomes,significantly%20to%20the%20ancestry%20of

In addition there would appear to be a potential link between this group, and the inhabitants of the Harappan or Indus Valley civilization. Below is my proposed distribution of L SK1414 / FGC51074:

Those tentative European Y haplogroup L links

We have seen above, that again, and again, Y haplogroup L (M20), and several of it's sub clades appear to have Western Asian origins, despite success of some of those sub clades today in India and Pakistan.  Y haplogroup L has not been linked to the Yamna hypothesis, that has taken credit for the origin of many haplogroups that are successful today in Europe.  Y-DNA L was located to the southern side of the Caucasus, between present day Turkey and Pakistan.  However, two particular Y-DNA L sub clades do make mysterious appearances across Europe.

1) L-L595 (L2) has only recently been discovered, so far, exclusively across Europe, in very low numbers.

2) L-M349 (L1b1), downstream of M317, also spreads across South Europe, and clusters at the Rhine-Danube.  I have on 23andMe forums, seen a number of testers that unfortunately have not tested their Y elsewhere, claim Ashkenazi paternal ancestry, but this is far from common to all European L-M349 samples. Although rarely forming much more than 1% of all Y along the Mediterranean coast of Southern Europe, this percentage does occasionally rise higher, for example, in parts of Italy.

When did L2 or even L1b1 enter Europe?  L2 has only so far been found in Europe.  There are some suggestions that some European L could be survivors from the Eurasian Neolithic.  However, ancient DNA has not yet been found to support this hypothesis. 

Prime resources

L Yfull Tree

https://www.yfull.com/tree/L/

Wikimedia entry for Y Haplogroup L-M20

https://en.wikipedia.org/wiki/Haplogroup_L-M20

FTDNA L The Y Haplogroup L Project

https://www.familytreedna.com/public/Y-Haplogroup-L/

Marco Cagetti's Y Haplogroup L

http://www.cagetti.com/Genetics/L-haplogroup.html

Anthropogenica Y Haplogroup L Forum Board

http://www.anthrogenica.com/forumdisplay.php?37-L

ISOGG 2009 Y Haplogroup L (Useful for understanding 23andMe Y haplogroup result of L2*)

http://isogg.org/tree/2009/ISOGG_HapgrpL09.html

ISOGG 2017 Y Haplogroup L

http://isogg.org/tree/ISOGG_HapgrpL.html

Other resources

Europedia Y-DNA Haplogroup L

http://www.eupedia.com/europe/origins_haplogroups_europe.shtml#L

23andMe users should note that the company in 2016, still used a very outdated ISOGG nomenclature system.  My 23andMe reported haplotype was L2*.  However, using ISOGG 2016, this is now L1b (L-M317).  NOT to be confused with modern day L2 (L-L595).

Facebook Y Haplogroup L Group

https://www.facebook.com/groups/773887796013634/

L-M317 STR Alpine cluster article

https://figshare.com/articles/L_M317_STR_marker_likelihood_tree_focuing_Alpine_cluster/105684

Familypedia Wiki for Haplogroup L

http://familypedia.wikia.com/wiki/Haplogroup_L_(Y-DNA)

For personal note  as of 2018-08-28.

My Y Haplogroup L Designation:

L +M20 +M22 +M317 +SK1412 +SK1414 (or FGC51074) +FGC51041 (or Y31947) +FGC51036

L-SK1414 = L1b2c

SK1414/FGC51074 age estimate current 9,300 years bp.

L-FGC51041 is a verified terminal

FGC51041/Y31947 age estimate current 6,000 years ago but only 2 samples on Ytree.

L-FGC51036 on terminal on FT-DNA

L-Y31947 is terminal on yFull

115 novel SNPs

Origins of the British, Irish, and English

Above photo taken by myself of the Ring of Brodgar, Orkney

I've modified this from a post that I made on a DNA forum, in response to people discussing out-dated origin stories, in response to a thread looking at ancestral composition for the English.  There is so much misinformation out there, and few people actually try to look at the latest evidences.

It starts by looking at the key points of a recent Irish study.

Cassidy, Martiniano, Murphy etal Study of Neolithic and Bronze Age migration to Ireland

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

https://www.theguardian.com/science/2015/dec/28/origins-of-the-irish-down-to-mass-migration-ancient-dna-confirms

Key points.

  • Ancient DNA from earlier Neolithic farmers suggests an origin from the Near East.

  • Later DNA from Bronze Age suggests a new population had arrived and dominated, with origins from the Eurasian Steppes, including the present day predominance of Y haplogroup R1b, lactose tolerance, and blue eyes. This displacement event appears to have occurred throughout much of Western Europe. The founder population on the Steppes has been linked to the archaeological population known as the Yamna or Yamnaya.

A background to the Yamna hypothesis to help people understand what the above study supported:

The Yamnaya were a population that existed across the Pontic and Caspian Steppes from what is now Ukraine, to Kazakhistan. They themselves were an admixed population, with ancestry from various different groups of Eurasian hunter-gatherers, and from the ANE (Ancient North Eurasian). They carried a number of successful adaptations, including the use of the wheel, improved selective breeding of horses for both riding and haulage, lactose tolerance, use of horse drawn wheeled carts, and a very successful pastoral based economy revolving around the herding of a number of species of livestock.

They are strongly figured to have carried an Indo-European language into Europe and elsewhere (South and Western Asia). That Indo-European language being the ancestor of the vast majority of modern European languages today. They may have also carried many of the most common haplogroups of modern Europeans, including Y hg R1a, R1b, and some mt hg H types among others.

There is a hypothesis that the earlier peoples of Europe, the Early Neolithic farmers, who had largely descended from early farmers in the Levant / Anatolia, had been suppressed by a number of possible environmental and climatic events. This might have paved the way for such a successful displacement of European populations.

As the descendants of the Yamna swept westwards into Europe during the Copper Age, so they spawned a series of new archaeological cultures including the Corded Ware of Eastern and Central Europe, and the Bell Beaker culture of Western Europe.

The Bell Beaker culture spread from Central Europe to the Western Atlantic Seaboard, and from Portugal up to Scotland. Classic artifacts include archer burials in round barrows, the bell beaker ware pottery, round scrapers, and barbed and tanged arrowheads. It was the dominant culture of Early Bronze Age Europe.

One suggestion is that it spawned the later Iron Age Celtic cultures, including the classic Western Atlantic Seaboard Celtic Culture. This culture may have simply evolved locally and through trade links along that seaboard.

The Irish study above supports the Yamnaya hypothesis. It supports displacement during the Early Bronze Age, and that the present day, fairly homogeneous population of Ireland, largely descends from Copper Age Eurasian Steppe pastoralists.

Okay, so what if we apply that also to the late prehistoric British populations? Scottish and West British today appear to have a close genetic distance to the Irish. How about the lowland SE British? It might be the case, that they had fresh admixture, exchanged with the Continent, and particularly with the expanding Germanic cultures. These events could have occurred even during late prehistory.

Now People of the British Isles (POBI) Study 2015:

http://www.peopleofthebritishisles.org/nl6.pdf

This genetic study looked at the British Isles including Northern Ireland, but excluding the Republic of Ireland. It tested a large sample group of present day British with known local ancestry.

Key points.

  • Orkney had the most distinctive population, with a known high percentage of Norse ancestry.

  • The Welsh were distinct from the English. However, they were the most diverse group, with a clear division between the North Welsh and South Welsh. Cornwall was also distinctive from English.

  • Northern Ireland clusters with Scottish.

  • There was no homogeneous shared British “Celtic” population. The Scottish, North Welsh, South Welsh, and Cornish being quite distinct from each other.

  • The South-East British (most of the English) were surprisingly homogeneous, although the boundaries of the old Anglo-Saxon kingdoms could still be distinguished.

  • The Continental Anglo-Saxon contributiion to present day English people appeared to be circa 10% to 40%. This contradicts Bede's claims of a genocide. The English descend more from earlier British populations than they do from Anglo-Saxon immigrants.

  • Although the Norwegian Viking contribution to Orkney was distinctive, the Danish contribution to Eastern England could not be detected. This may be because of the close genetic distance between Danish Viking and some earlier Anglo Saxon settlers makes it impossible to see.

  • Although there was no “Celtic Fringe”, the Welsh appear to be closest to the late prehistoric British population.

  • Any Iberian contribution appears to be tiny and insignificant.

  • There appeared to be a contribution in Southern Britain, particularly in Cornwall, from a population shared today by the North French. This contribution appears to have occurred during late prehistory and is historically unknown.

Okay, so that is suggesting a diversity across the British Isles that extends into Prehistory. A key finding to this thread is that it found the English to be an admixed population, with earlier British ancestry dominating Anglo Saxon ancestry from the Continent.

Finally, I think it is worthwhile bringing up another recent study:

Iron Age and Anglo Saxon Genomes from Eastern England. Schiffels, Haak, etal. 2015.

This qualitative study focused on ancient DNA from a number of Iron Age and Anglo Saxon cemeteries in the Cambridge area of SE England, referenced against modern populations.

Key points.

  • The East English derive 38% of their ancestry from Anglo-Saxon immigrants

  • The closest genetic distances on the Continent between the Anglo Saxon settlers and present day Europeans was to the Dutch and Danish.

  • They found evidence of admixture and intermarrying. Individuals with both Iron Age British, and Anglo Saxon ancestry.

  • People of Iron Age British ancestry were adopting and embracing Anglo-Saxon culture and grave goods.

  • The richest graves were of local Iron Age British ancestry (with Anglo Saxon cultural artifacts). The poorest graves were recent Anglo-Saxon arrivals.

My conclusion:

  • We have to be careful about who we regard as the Celts. A Celtic culture did exist, but it wasn’t necessarily brought to the British Isles and Ireland by an Iron Age people. It may have developed on the Western Atlantic Seaboard from earlier Bronze Age peoples.

  • Those Bronze Age peoples, predominantly descended, from Eurasian Steppe Pastoralists, that had swept across Europe, bringing innovations. They are the oldest peoples of Ireland and the British Isles, but they did not form a homogeneous Celtic Fringe. There must be more to it.

  • The Anglo-Saxon event in SE Britain was a major and significant migration. However, it was not the genocide of Bede's claims. Hengist and Horsa were clearly mythological origin characters akin to Romulus and Remus.

  • The modern day English are an admixed population. They have a foot both in earlier British ancestry, and in Anglo-Saxon / North Sea migration.

Building bridges and walls through ancestry

Copied from openstreetmap.org and modified under the Open Data Commons Open Database License.  

Bridges and Walls, Snakes and Ladders

I've noticed two perspectives within the broad scope of genealogy where it ties to population genetics.

  • Some people, those with nationalistic, right wing political views, frequently look for what divides their ancestry from others.  What defines and ties them to a historical population, or even to a land.  They may well want to prove connection to a romanticised historical group within their part of the world.
  • Others - those of a more international, liberal persuasion, instead tend to look for what unites them with other peoples alive today - what connects them within the community of humanity.

I have to confess to being more of the latter.

On Paper

I started out with a pretty well researched paper genealogical record.  A family tree.  A family history.  Researched through oral history, interviews, parish records, state records, and then on to digitalised records in more recent years.  A genealogical database of 1,570 individuals for my kids, and 207 direct ancestors recorded for myself - going back to the 1680s.  My recorded ancestry was 100% English - dominated by the County of Norfolk.  The majority of present day English perhaps have some non-English ancestry, perhaps Irish or Scottish, or something a little further afield.  I didn't find any.  All English surnames, and English denominations.  Some of those surnames however, did echo rather more ancient immigration from across the North Sea.

Autosomal DNA Testing

Autosomal DNA testing for ancestry provided a bit of a surprise.  I took a 23andMe DNA test, along with my mother, who's results I phased with to provide more accuracy.  The 23andMe Ancestry Composition analysis in standard mode didn't simply see me as English, or even as British.  It did see me pretty much as 100% European.  Not a hint of Africa nor Asia within the past several hundred years.  It saw 86% of my autosomal DNA as definitively North-West European.  However, it could only see a mere 17% as distinctly belonging to British & Irish.  So, the ancestry test of my autosomal DNA certainly agreed that I was European, NW European even, but couldn't be sure on how English or even British that I was.

23andMe Ancestry Composition in the very unreliable speculative mode rated my British/Irishness at only 37%.  The highest percentage of focus - but it saw 22% of my autosomal DNA ancestry as French / German, 1% as Scandinavian, and 2% as South European.  So considering my 100% English ancestry on paper, autosomal DNA testing couldn't really be very sure about my ancestry.  Even in speculative mode, it had 34% of my DNA as "Broadly NW European", meaning that it couldn't be sure, but somewhere in that corner of that continent.

Fair enough I suppose.  I've lost a certain amount of faith in any autosome DNA tests for ancestry to be able to pinpoint the English.  You see, even ignoring recent waves of immigration of Irish, Scottish, French, Germans, West Indians, South Asians, etc, etc.  The truth is that the English were already a very admixed population even 1,500 years before present.  Already a mixture of prehistoric populations, immigrants from across the Roman Empire, then from across the North Sea, from the Low Countries, Northern Germany, Denmark, Scandinavia, etc.  23andMe claim that their product reflects your ancestry 500 years ago.  No it does not.  It uses modern reference populations.  Genes have been circulating around the World for a long time.  Autosomal DNA tests for ancestry have really improved.  They are pretty good now for recognising a Continent - sometimes even a corner of a continent, as the source of some ancestry.  But they cannot pinpoint many populations with accuracy, and they cannot pinpoint the English.

So, my paper record said English.  My 23andMe autosome DNA test said North-West European, but couldn't even pinpoint British.  It suggested admixture.  It did however - this is important - only see me as European.  Okay, in Standard Mode, it did have a tiny 0.3% that it failed to assign to Europe, nor anywhere.  It did not see Asian.

Haplogroup DNA Testing

Haplogroups follow two narrow lines of ancestry.  The Y follows the direct paternal line, the MT follows the direct maternal.  They do not represent the bulk of your ancestry.  However, they can tell a more accurate, and longer term story.  Ancestry can be lost in Autosomal DNA within a few centuries.  In addition, it gets messed up through recombination.  Not so with the two haplogroups.  So where did mine come from?

My MT-DNA

There is an awful lot that we will know in future about our haplogroups, that we don't yet know - especially in the case of mt-DNA. However, we do know that my haplogroup, H6a1, did not originate in Europe.

H is common in Europe, and it most likely originated either there, or in South West Asia, during the Upper Palaeolithic. H6 did not originate in Europe.  It may be West or Central Asian in origin.  H6a1 has not been recovered in any ancient DNA within Western Europe.  However, it has been recovered in the DNA of the Yamnaya on the Eurasian Steppes.  For this reason, it is generally thought - based on evidence so far, to have been brought into Western Europe during the Early Bronze Age, by the expansion from the Eurasian Steppes at that time.

It isn't too fanciful - based on this evidence, to imagine that my distant grandmothers belonged to tribes of Early Bronze Age pastoralists, living on the Steppes of what is now the Ukraine.

My Y-DNA

This one has been a cracker for me.  Anyone that has followed my blog, might be getting bored with this.  I've thoroughly tested my Y-DNA.  It's not an exaggeration to suggest that it is quite likely Ancient Persian.  Based on current evidence, I believe that my Y-DNA arrived into England within the last millennia - probably between 350 and 800 years ago.  I'm still working on it's most likely route here.  I do believe that it was most likely still located in the region of Iran circa 1,000 to 2,000 years ago.  My nearest 111 STR match is to a guy in Australia who's paternal line lived in Birjand, Eastern Iran.  We shared a common ancestor around 2,000 years ago.  My terminal SNP is shared on record with only one other man so far - in the world.  He was a Balochi speaker that lives in Makran, SW Pakistan - close to the border with Iran.  The Balochi are believed to have migrated from North Iran between the 5th and 14th centuries AD.

Nomad camp, at the Zagros Mountains, Iran.  By C Whitely on Flickr under Creative Commons License.

A bit more distant, I have a Y cousin in the USA that maybe I shared a common ancestor with 3,000 years ago.  He is of Azores Portuguese descent on his Y line, but he carries a distinct STR marker that has been associated with the Parsi, who migrated to India and Pakistan, but originated in Iran.

And going further back, the Y haplogroup L most likely originated within the area of Iran and Iraq, during the Ice Age.  It would have been carried by Upper Paleolithic hunter-gatherers in that region.  13,000 years, I shared grandfathers with two Pontic Greek Y cousins, who's ancestors lived in Trazbon, Eastern Anatolia.  Maybe one Y ancestral son headed to the Black Sea, the other settled at the Caspian Sea?  The Ice Age was drawing to a close, but with a ferocity and climate instability that drove bands of people apart and into refuges at that time.

The Parsi connection keeps hinting.  They descend from Persians that worshiped the ancient religion of Zoroastrianism.  I've just seen a Y haplogroup study of men in Pakistan.  The background level of Y haplogroup L-M317 sat at 1.1%.  However, in the sample of Parsi men there - it spikes up to 13.3%.  That might not be the route however, of my Y line.  The SK1414 SNP turned up in that same study, but that was found on the Makrani Boluch man that was tested L-M317, not in the 12 Parsi men that also tested positive for L-M317.

Conclusion

I prefer bridges to walls, and that is what I got.  My paper ancestry said 100% English - much of it East Anglian.  I'm quite proud of that, but I'm equally proud of my more distant ancestors that emigrated here.  I've found North Sea admixture, from places such as the Netherlands and southern Scandinavia.  I've found a grandmother in a Bronze Age tribe of pastoralists in the Ukraine.  I've found ancient Persians, descending from hunters of Ibex in the Iran / Iraq region.  I've found distant cousins in the USA, Iran, Pakistan, Australia, and Turkey.

One species, one family.