A new test - LivingDNA test for Ancestry

You might think that following my recent posts, that I've lost all faith in DNA testing for Ancestry.  Not at all.  I just object when people take the analysis results of autosomal DNA tests for ancestry, as infallible truths.  They are clearly not.

So far this year, I have commissioned two 23andMe tests, and three FT-DNA tests, a FullGenomes analysis, and a YFull analysis.  I have also used free analysis at WeGene and DNA.land, and have run three raw files on GEDmatch calculators.  You'd might also think that I've done enough testing for one year!  I thought that as well.  Then a new service just entered the market.

Living DNA Ancestry attracted my commission on two particular points.  1) it has an incredible British reference, that promises to break ancestry composition into 30 British regions - in addition to global analysis.  If it works, then this is a must for people with significant British ancestry.  2) it uses the latest cutting edge test chip.  The latest Illumina chip based on Global Screen Array (GSA).  In addition, it uses a European based lab (Denmark), it tests Y-DNA, mtDNA, and autosomes.  It tests more SNPs on all three counts, than other current chips used by competitors offering autosomal plus tests.  Raw files for the test results will be available for download.

The British Reference

Living DNA will be using a British reference broken down into an incredible 30 regions, across England, Scotland, Wales, Orkney, and Northern Ireland.  The reference uses the much heralded POBI (Peopling of the British Isles 2015) data set.  This project collected 4,500 blood samples from people that could claim four grandparents in the same area, from across the regions of Britain.

A little about the POBI project below:

The British reference does not include the Republic of Ireland.  However, LivingDNA are confident that they have collected a good global reference, and I understand, that they are seeking a similar quality Irish data-set for the future.  

In comparison, other providers of DNA tests for ancestry, only reference to Britain, or the British Isles & Ireland, as a single reference point.  And as can be seen by my previous posts, with limited success.

They also hope to provide imports for formats of raw file from other test companies in the future.  LivingDNA do not themselves currently offer relative matching, or health information.  Their service is for now, primarily for ancestry.

The Chip

They will be using a custom version of the latest Illumina chip technology, the Global Screen Array (GSA).  It is encoded with:

650,000 autosomal DNA SNPs

20,000 Y-DNA SNPs

4,000 MT-DNA SNPs.

In comparison for example, the 23andMe V4 chip scans for:

577,000 atDNA SNPs

2,329 Y-DNA SNPs

3,100 MT-DNA SNPs.

I hope that LivingDNA will also use up-to-date haplogroup nomenclature and information.  23andMe with their V4 chip still use very dated 2009 nomenclature.

So, let's see if this new service is any improvement to my results, compared with the hit and miss of 23andMe, and Family Tree DNA (FT-DNA).  Will they be able to identify and locate my English roots successfully?  What will the improved chip make of my haplogroups?

The Southern European DNA enigma. Option 1. The DNA Analysis is true

My great grandfather Fred Smith, and my great Uncle Lenny.

Option 1.  The DNA Analysis for Ancestry is true

This option supports the commercial DNA for ancestry companies claim, that I have Southern European ancestry.  For this to be the case, my Southern European ancestors must have either a) been hidden in the gaps, the missing ancestors.  b) be NPE (non parental events - biological ancestors that are contrary to recorded ancestors.  Usually male). c) predate my genealogical record over the past 360 years or d) my recorded genealogy is faulty.  I have badly researched my ancestry and have made mistakes.

What gaps are there?  All of my generations are complete to and including my Generation 5.  I have all of the names of my 16 direct ancestors at that generation (great great grandparents).  All appear totally English, of English religious denominations.  Their surnames and location were: Brooker of London (previously Oxfordshire), Shawers of London, Baxter of Norfolk, Barber of Norfolk, Smith of Norfolk, Peach of Norfolk, Barber (again) of Norfolk, Ellis of Norfolk, Curtis of Norfolk, Rose of Norfolk, Key of Norfolk, Goffen of Norfolk, Tammas-Tovell of Norfolk, Lawn of Norfolk, Thacker of Norfolk, and Daynes of Norfolk.

I have photographs of three of them.

Everything looks utterly English - the majority East Anglian.

The gaps start to appear at Generation 6 (G.G.G Grandparents)  Three missing male ancestors - all missing fathers of illegitimate births.  29 out of 32 direct ancestors recorded though.  All appear English again:  

Brooker of Oxfordshire, Edney of Oxfordshire, Shawers of London, Durran of London (previously Oxfordshire), Baxter of Norfolk, Barber of Norfolk, Smith of Norfolk, Hewitt of Norfolk, Peach of Lincolnshire, Riches of Norfolk, Barber of Norfolk, Ellis of Norfolk, Goodram of Norfolk, Curtis of Norfolk, Larke of Norfolk, Rose of Norfolk, Barker of Norfolk, Key of Norfolk, Waters of Norfolk, Goffen of Norfolk, Nichols of Norfolk, Tovell of Norfolk, Tammas of Norfolk, Lawn of Norfolk, Springall of Norfolk, Thacker of Norfolk, Daynes of Norfolk, Quantrell of Norfolk.  Oh, and a "Mary Ann" of Norfolk.

Again, all English, English religious denominations.  Mainly rural working class East Anglian.  No sign of any foreigners.

The record does start to really fall away at Generation 8.  From then on, it's a minority of lines recorded, stretching back to the 1680's.  However, at no where on my record of 207 direct ancestors, do I see anything that looks remotely non-English, never mind Southern European.  No sign of any Catholicism anywhere.

Let's just consider percentages of DNA though.

Each grandparent gives me 25% on average.

Generation 3 (grandparent) 12.5%

Generation 4 (great grandparent) 6%

Generation 5 (great great grandparent) 3%

Generation 6 (G.G.G grandparent) 1.5%

Beyond then genetic recombination starts to really kick in, and you may have zero DNA from any particular ancestral lineage.  It get's washed out.  Only if it comes down from a number of lines is admixture highly likely to survive further back.

23andMe (V4 AC in spec after phasing with one parent) claims that both of my parents had 2% Southern European DNA.  That takes it back to around MY Generation 6 or 7.  Sure, I'm missing 9% of Generation 6, and 20% of Generation 7.  My Southern European ancestors could have admixed then.  But what are the chances of it happening on both sides?  Possible, yes.  I think unlikely though.  No Southern European names or religions passed down.  When was this? Around 1780 to 1820.  Okay, if I want to piece national history into it, how about The Peninsular Wars (1807-1814)?  The Royal Norfolk Regiment took an active part in that campaign.  Could I have (presumably male) ancestors through both of my parents, that brought back Portuguese wives?  It is a possibility.  I'll acknowledge that.  But am I weaving history in order to make it fit the DNA analysis?

FT-DNA (FF My Origins) claims that I have 32% "Southern European" ancestry.  No sign of it in family history or photography.  Too much likeness of recorded fathers.  Okay, maybe it goes further back, but on multiple lines?  I think that we are pushing this one.  What is the chance of so many Southern Europeans given my above recorded or known English ancestry.  It couldn't have happened.

DNA.land gives me 19% Southern European, including 13% Balkan.  The same problem as the FT-DNA analysis.  It just doesn't wash.  It cannot fit.

Therefore I conclude:

  1. FT-DNA and DNA.land claims of my Southern European percentages cannot realistically be explained by gaps or missing ancestors.
  2. 23andMe claims of 2% Southern European could be explained by the missing gaps - just!  But would need quite a coincidence to be on both sides, just in those gaps.

That pretty much covers it for gaps, NPE's, etc.  If any Southern European on the other hand, predates my genealogical record, then it would need to be on multiple lines, and to have lost all sign of Southern European surnames, religions, and traditions.  I haven't seen any history of a mass Southern European migration to England 600 - 400 years ago.

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 Haplotype.  A Haplotype, refers not only 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 Haplotype could be designated as L-M317, or alternatively, as L1b.

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 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.  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 2016 Nomenclature.  L2 or L-L595 is very rare, but has so far cropped up sporadically across Europe, including in Sardinia.

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.

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, as 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, where it has been projected onto 15% of men.  It is however, also found outside of India, in Saudi Arabia, Iraq, Pakistan, and Iran.  This is perhaps the most populous modern day L sub clade, found in 14.5% of Indian males.

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

Ancient Y DNA from the Copper Age has recently emerged from this location, 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 as 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.

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), has so far been detected only in Makrani Balochi, in SW Pakistan, and in England!  It has also been predicted for STR testers from Eastern Iran, and Saudi Arabia.  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.

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 2016 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

Cropped image of the top of my 23andme Haplogroup Mutation Tree Mapper:

23andMe users should note that the company in 2016, still uses 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)


L1b2b (L-PH8) homelands with Roman political boundaries circa 50AD

This map illustrates political zones at that time, across the area which today includes some of the highest percentages of Y-DNA L1b2b.

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

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.

The Other SK1414. My Cousin in Baluchistan

By Baluchistan on Flickr under a Creative Commons Licence. No, this young man is not the SK1414 tester, but the mandolinist in me found this photo kind of cool.  A young man from Makran.  The other SK1414 tester was also a male Makrani Baloch.

I'm hot on the trail of my Y or paternal line, following my FTDNA Y111 STR, then Big Y tests.  These tests analysed the DNA on my Y chromosome.  It is passed down strictly from father to biological sons.  the mutations (SNP and STR) that can be identified in the Y-DNA, can be used to assess relationship, and in some cases, to date the time of most recent common ancestry.  So, with the assistance of Gareth Henson, administrator of the FT-DNA Y haplogroup L Project, and with help from my new distant cousins, what have I learned over the past few weeks?

The Smoking Gun of Y-DNA

Between 45,000 and 13,000 years ago, my paternal ancestors most likely were hunter-gatherers, that lived in the region of what is now Iran and Iraq, during the last Ice Age.  Some sharp changes in glaciation, and cold extremes towards the end of that period, may have generated a number of adaptations, and subsequently, split new sub clades of my Y haplogroup L.

13,000 years ago (based on the Big Y test), I share a common paternal great x grandfather with a number of distant cousins, that descend from Pontic Greek families from the Trabzon region in Turkey.

Between 3,000 and 1,000 years ago (based on the less accurate STR evidence at 111 marker), I share common paternal great x grandfather with another cousin, who's paternal line Habibi, can be traced back to the 1850's in the town of Birjand, Southern Khorasan, Eastern Iran, close to the modern Afghanistan border.  This closer cousin now lives in Australia.

Human male karyotpe high resolution - Y chromosome

My Big Y test produced no less than 90 previously unrecorded or known SNP (pronounced "snip") mutations.  That might be because my Y-DNA is rare, or / and, that it is mainly found in parts of the World where very few people test at this level.  The last SNP on the roll that had been seen before, has been called SK1414.  Because now two of us have tested for this SNP, it is my terminal SNP, so at the moment (although it still has to be submitted to the YFull Tree), I can declare my Y haplogroup sub clade designation to be L-SK1414.  Only one of two so far recorded in the World.

So, who is this Y cousin that shares my SK1414 mutation?

My Baluchistan Cousin

By Baluchistan on Flickr under a Creative Commons Licence.  Another photo from Makran, Balochistan.

The other SK1414 turned up during an early survey, back in the early 2000s by the Human Genome Diversity Project.  It turned up in a sample of the Baluchi in Makran, South-west Pakistan.  Could this cousin be closer than the Habibi tester?  Could my Habibi cousin, from an eastern Iranian family also carry SK1414?

The Baluch, are an Iranic people, that speak Baluchi, an Iranian language that belongs, as do most European languages, to the Indo-European linguistic family.  According to the Iran Chamber Society website, they moved to Makran during the 12th Century AD.  Traditionally the Baluch claim that they originated in Syria, but a linguistic study has instead suggested that they actully originated from the south east of the Caspian region, and that they moved westwards between the 6th and 12th centuries AD in a series of waves.  No other Y sub clade L1b (L-M317) have been found in Southern Asia outside of two samples of this survey, so perhaps the tester did have ancestry from Western Asia.

Iran regions map fr

It would seem likely that I do have a number of Y cousins, most likely in the region of Eastern Iran and South-Western Pakistan.  That doesn't necessarily follow though, that our most recent common Y ancestors lived there.  As I said above, the Baluch of Makrani, Pakistan are said to have migrated from further north-west, from the Caspian Sea region.

There is a tentative suggestion of a link to the Parsi. A Portuguese STR tester with a genetic distance (based on 67 markers) of 22, has (thanks again Gareth) "a distinctive value of 10 at DYS393. In the Qamar paper this value is found in the Parsi population".  So there is just the possibility also, of the Parsi ethnicity carrying L1b from Western Asia into Southern Asia.  Perhaps this marker was picked up by a Portuguese seafarer link to Southern Asia.  It could even be the link to my English line, via the Anglo-Portuguese Alliance.  A lot of speculation.  I don't think that M317 has been found yet in India.

Into England

I have found STR links with four people that carry the surname Chandler.  They live in England, Australia, and the USA.  These cousins appear to descend from a Thomas Chandler, that lived in Basingstoke during the 1740s.  That is 32 miles away from my own contemporary surname ancestor, John Brooker, who lived at the same time at the village of Long Wittenham in the Thames Valley.

Unfortunately three of the Chandlers have only 12 markers tested, and the fourth at 37 markers.  Therefore time of most recent ancestor is not accurate, but it looks as the Chandler and Brooker Y hg L testers of Southern England, most likely shared a common paternal great x grandfather sometime between 800 and 350 years ago.

That only these two lines have turned up, and that they are geographically and genetically so close, might suggest that our Y-DNA lineage arrived in Southern England around the late medieval, perhaps from between the 13th and 17th centuries AD.  It could just be through a Portuguese navigator link, or it could be through thousands of other routes.  More L-M20 testers could turn up in England in the future, that could push the arrival to an earlier date.

Today

I could have any number of cousins from south England.  The Brookers and Chandlers may well have other paternal line descendants living in the Thames Valley, Hampshire, London, or elsewhere.  I'd love to prove a Brooker from the Berkshire / Oxfordshire area, as sharing ancestry.  I believe for example, that the journalist Charlie Brooker descends from one of the Thames Valley families, although not necessarily from mine.  Do they carry the Y hg L?

My great great grandfather Henry Brooker, did not appear to have any more sons, other than my great grandfather John Henry Brooker - who in turn, only had one son, my grandfather Reginald John Brooker.

I have one Y haplogroup first cousin.  He has I believe, a son, and a grandson.

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.