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 Europe, including in Sardinia, England, and the Baltic area.

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 (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, Lebanon (Druze), and in England. STR predictions for L-SK1414 have also been found in France, Italy, Saudi Arabia, Iran, Turkey, and Portugal.  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 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)


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.

How did our family inherit a Y haplogroup L1b?

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

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

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

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

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

Copied from Ancestral Journeys

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

L1b homelands with Roman political boundaries circa 50AD

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

Pontic Greek Colonies around the Black Sea

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

My Y Haplogroup L-M20 Resource Post


Edit. 03 May 2016

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

Ten from Turkey (two specified as Armenian)

Five from Georgia

Three from Chechen Republic

Two from Greece (one specified as Pontic Greek)

Two from Portugal

Two from Italy

Two from Armenia (one specified as Turkish)

One from Iraq (Assyrian)

One from Kuwait

One from Azerbaijan (Azeri)

One from Lebanon)

One from Bulgaria

One from Austria

One from USA (surname Ayers)

One from Romania

One from Russia (Tatar)

One from Cyprus (Austrian Tyrolean)

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

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