Showing posts with label Iberia. Show all posts
Showing posts with label Iberia. Show all posts

Wednesday, September 24, 2014

DNA Mysteries: Iberian R1b-V88 in Africa

   When I first heard about R1b in Africa, my immediate assumption was that the predominantly Celtic haplogroup must have been a recent transplant.  I ran some of the V88 haplotypes against the big databases (FTDNA & ySearch) expecting to see matches to European men within the African colonial timeframe.  It wasn’t that easy.  Common ancestor analysis put the R1b Africans (V88) thousands of years removed from the rest of their European R1b cousins.  Where did they come from?  How did they get there?


   I started with the given that the R1b defining mutations (SNPs) occurred in the Iberian Peninsula.  The jury is still out on this hypothesis.  There have been scientific papers for and against Iberian origins of R1b.  My own work (Iberian Origins of R1b) supports an origin prior to the Neolithic expansion.  Could V88 have made a straight-line migration from Iberia to the Lake Chad region of Africa?  Could V88 have crossed the Straits of Gibraltar, travelled across the Sahara, which 7,000 years ago was a savannah well populated with animals for hunting, and arrived at Lake Mega-Chad?  That was my early premise.  I was wrong.

   The distribution of V88 is much larger than any of the scientific papers would indicate.  While I agree with the work that’s been done correlating the spread of V88 with the spread of Chadic languages (Cruciani et al 2010), the Chadic population is only a subset.  Nobody takes into consideration the V88 populations in Europe and the Middle East.  If they do, it is a sideways glance to say were ignoring them because they don’t fit into what we are trying to prove.  If you don’t look at the entire picture, your conclusions will be skewed.

   I wanted the largest selection of V88 Y-DNA records with at least 37 markers tested.  I started with Family Tree DNA projects that had the records SNP tested.  Those haplotypes were run against the ySearch database to identify highly related records with no SNP testing.  The initial gathering of records picked up individuals with SNP M73.  These were removed.  The key differentiator between V88 and M73 was DYS464a&b.  V88 was typically 12,12 and M73 was 15,15.  Thirty-seven or more STR markers are helpful in identifying additional related haplotypes and even more necessary in determining the relationship between records.  Most studies only looks at SNPs or a small handful of STR markers.  This is shortsighted.  Imagine a reference population of 100 records all with the same SNP.  Without enough STR markers you can’t tell whether you are looking at one haplotype with minor 1 or 2 step variations or 100 unique haplotypes.  That’s the difference between a founder event starting with as few as one individual or a group with greater diversity and age.

   My final set of 119 records has at least 37 STR markers, V88 SNP testing or is highly related via STR and has the geographic location of the most distant known ancestor.  The records are processed through PHYLIP to generate a phylogenetic tree.  The phylogenetic tree give a visual depiction of the relationships in the dataset and an approximate number of years back to common ancestors, represented as the nodes between the records.


All of this is very standard genetic genealogy.  I add a twist (Biogeographical Multilateration) by converting the years back to a common ancestor to a distance using Cavalli-Sforza’s migration rate of 1 to 1.2 km per year.  This is enough for me to solve a series of cascading equations giving me the locations of the common ancestors.  Looking back at the phylogenetic tree shows us how all the nodes and locations are connected, essentially the flow of migration.


   The out of Iberia event took place about 7,700 ± 1,600 years ago.  TMRCA calculations have been shown to be very inconsistent.  Some folks use a constant mutation rate and some use rates per marker.  I include a TMRCA to give a relative chronology.  While the majority of R1b is known for its Western Atlantic migrations, V88 took a path along the Mediterranean coast and down the Adriatic.  While none of the V88 records indicated Crete as an ancestral location, it appears multiple times as a common ancestor location.  The data shows Crete as a stepping-stone in the Mediterranean as V88 migrated to the Nile River Valley.  The back to Africa event(s) occurred roughly 5,500 ± 1,000 years ago.


The majority of the Chadic records (Cameroon, Chad and Nigeria) have relatively close genetic connections to individuals in the Middle East (mainly Saudi Arabia).  The Chadic and Middle Eastern records tie back to common ancestors along the upper Nile.  There is a significant lack of information to understand what impact R1b-V88 had on the Nile Valley cultures.  Considering that there was only 1 out of 119 records with an exact Nile River location, I would venture a guess that V88 didn’t integrate well.

   While the V88 back to Africa migration has captured much attention, the data shows a more fascinating event.  There was a V88 re-migration back to Europe from Africa.   The back to Europe event took place about 3,200 ± 1,000 years ago.  Again, Crete played a role as a stepping-stone as V88 entered the Eastern Adriatic region and spread into Central and Eastern Europe.  Someone will probably notice that many of the V88 in Eastern Europe are Jewish and that the date for leaving the Nile region is close to the time of Exodus.  There is nothing in any of the data to indicate that this was the Jewish Exodus from Egypt.  The V88 group in Eastern Europe is closely related and there is phylogenetic evidence to support that this may have been a founder event with a single male or small group of closely related males.  There is no evidence to support that those founders were Jewish when they left Africa.


   By looking at the big picture, including all the data and letting the data illustrate the patterns, we can unravel what appears to be the mysterious appearance of R1b in Central Africa.  Along the way, we can uncover a previously unknown re-migration from Africa to Europe.  Too often haplogroup data is treated as discrete buckets of information living in a vacuum with no interaction to other haplogroups and no internal relationships.  Every DNA record is connected to every other record in a network.  Each haplotype is a vector with location and direction.  The sooner we treat genetic records as a network analysis, the sooner we will solve more DNA mysteries.

Out of Iberia and back to Africa.  Followed by a return to Europe.

Reference:

Maglio, MR (2014)  Y Chromosome Haplogroup R1b-V88: Biogeographical Evidence for an Iberian Origin (Link)


Tuesday, August 12, 2014

Iberian R1b Y-DNA: First Movers in Europe

   The disputed origins of haplogroup R1b, most commonly thought of as Celtic, remains split between Iberia prior to the end of the last ice age and various West Asian locations after the ice age.  A new view on the R1b homeland comes out every year.  With all we know about DNA, shouldn’t we be coming to a consensus?  Typically, I refer to R1b as Celtic to help an audience make the connection between lettered haplogroups and culture or ethnicity.  I also add the caveat that Celtic is a misleading label.   R1b is supergroup of cultures including; Iberian, Gallic, Celtic, Germanic and Scandinavian.  To attribute empires or nationalities to R1b would be foolish, as R1b is tens of thousands of years older than any known empire.

   Perhaps I’m naïve.  I like simple, logical answers.  The earliest publications on R1b described their ancestor R1, entering Europe from central Asia during a warm period about 30,000 – 40,000 years ago.  The last ice age forced R1 to split and take refuge south in Iberia and the Balkans.  Time and separation gave us the mutations R1b in Iberia and R1a in the Balkans.  That split is roughly what we see today in those regions.  That’s clean and simple.  The real world is much more complex.  R1b and R1a were not alone in Europe.  Their interactions with the other major European haplogroups- E, G, I, J and N has to be taken into consideration.  We can’t analyze R1b as if it were in a vacuum.

   Let’s take y-DNA haplogroups out of the picture for a moment.  We know that modern humans survived and flourished in the Iberian refuge during the end of the last ice age, based on mitochondrial DNA studies.  [Could someone please run some y-DNA tests on those samples?]  The tribes in western Europe, whoever they were, had a 1,000 to 2,500 year head start over the tribes in central and eastern Europe on repopulating the continent.  The ice sheets melted and retreated earlier on the west coast than in the rest of Europe.  This gave the inhabitants of the Iberian refuge an advantage – a “first-mover” advantage gained by being the first to move north.  These first-movers gained a land-monopoly.  A tribe with a first-mover advantage and over a 1,000 year head start should have been hard to displace from western Europe.  In other anthropological situations, those original inhabitants are forced into niche locations by invading populations, but very rarely are displaced completely.  What we see on the west coast of Europe, is a very strong R1b presence and no niche haplogroups of a significant age.  From this point of view, either R1b is the original Iberian inhabitant or R1b completely decimated another earlier haplogroup that had a 1,000 year geographical head start.  I like simple.  R1b was in Iberia first.
   Let’s throw some data at the problem.   The R1b haplogroup population is enormous.  The majority fall into SNPs R-P312 (Celto-Iberian) and R-U106 (Celto-Germanic).  There is so much information there that it tends to be noise.  If you want to get to the root of R1b (R-M343), you need to work with the branches that are closest to the root - R-L278*, R-V88, R-M73*, R-YSC0000072/PF6426 and R-L23.

• • R1b   M343
• • • R1b1   L278
• • • • R1b1a   P297
• • • • • R1b1a1   M73
• • • • • R1b1a2   M269
• • • • • • R1b1a2a   L23
• • • • R1b1c   V88
[• • • • • • • • • R1b1a2a1a1   U106 - too far downstream]
[• • • • • • • • • R1b1a2a1a2   P312 - too far downstream]

   I collected 250 records that matched these SNPs or were genetically close by STR haplotype.  These records were mapped based on user-reported most distant ancestor location.


   This is not a connect the dot exercise.  Just because two or more records appear geographically close doesn’t mean that they are genetically close.  These 250 records have to be treated like a network.  If this were Facebook, these folks would be randomly associated through family, business, school or neighbor connections.  These are y-DNA records.  There is a relationship between every pair.  Each pair has a different common ancestor, with a different number of generations to get back to that ancestor.  Here is an example of what that relationship looks like across multiple pairs.  The number represents years back to a common ancestor (TMRCA).


When all of the interrelations are taken into consideration, the group of records can be displayed as a relationship tree of who is older or younger and who is more closely related to whom (phylogenetic tree).


   Now we have who, where, when and how the records are connected.  At this point it does become a connect the dots exercise.  I’ve used a biogeographical analysis to connect very specific sets of dots based on the calculated interrelation of the entire group.


   The R1b genetic family tree has a trunk and many branches.   The trunk of the R1b data is firmly rooted in Iberia.  The main core of the tree stretches along the western Atlantic coast of Europe and branches across Europe and even back into Asia.  The results that I found support the work of the earliest pioneers in the field and conflict with the latest publications.
 


   Every analysis has its limitations.  The work that I’ve done looks back at the R1b family about 8,000 years.  The scarcity of data only allowed for me to predict the origin of R-L278, which is currently one branch below the main root of R-M343.    I can’t tell where R1b was between the times that R1 split into R1b and R1a, yet.

   In my analysis, I have included R-V88.  They are a curious group of R1b found in Africa and the Middle East.  I will be treating R-V88 in a separate write-up to do justice to a very interesting back migration story.  The R-V88 article can be found here.

Reference:

Maglio, MR (2014)  Biogeographical Evidence for the Iberian Origins of R1b-L278 via Haplotype Aggregation (Link)