Our exotic Y Haplogroup L1b

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


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

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

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

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

Y Haplogroup L


Distribution Haplogroup L Y-DNA

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

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

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

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

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

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

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

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

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

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