Showing posts with label SNPs. Show all posts
Showing posts with label SNPs. Show all posts

Monday, February 10, 2014

The Third Brother: A Y-DNA Tale

   If we were to look at the Y-DNA family tree, we would see ancestors and descendants in a genetic sense. Haplogroup B is descended from A and C is descended from B. If we keep going, R is descended from P, etc. Within haplogroup R is SNP R-L11/P310 (R1b1a2a1a ISOGG 2014). There was a boy born somewhere between 3,000 and 10,000 years ago (there is much disagreement on the exact age). This boy was the first male to have this mutation on his Y-chromosome. He essentially became the ‘father’ of all R1b men in Western Europe.

   This R-L11 man had three sons, in the genetic sense, not in the literal sense. The first two sons are R-U106 and R-P312. Their stories are well known (at least in genetic genealogy circles). This is the story of the third brother, the one without a name. I’m going out on a limb in saying that this third branch exists as an independent unidentified SNP. R-DF100 has been identified as belonging to this third branch. Yet, it is too early to determine whether DF100 is the third brother or one of the many nephews (I had to keep the analogy going). Currently it is known as R-L11*/P310* (xU106,xP312), which means that folks on this branch test positive for having the L11 SNP and test negative for the U106 and P312 SNPs. Let’s call him R-x for simplicity. In case you were wondering, a SNP (single nucleotide polymorphism) is a mutation that can mark a branch point on your DNA.

Figure 1 – Three Brothers
   What do we know about R-x? They are a small group, only about 10% of the very large R1b population in Europe. They are still found in substantial numbers in Danelaw areas, the Netherlands, Pomerania, former Prussia and Denmark. U.S. President John Adams is one famous member of group R-x. A group of R-x descendants have created a site (http://www.worldfamilies.net/surnames/r1b1a2a1a) for those who are interested in tracing their family origins further back, have taken a y-DNA deep clade test and tested positive for L11 and negative for P312 / U106. 

   I was approached because of my work done on William the Conqueror’s DNA. The question was asked, what was the frequency of R-L11* (R-x) in the Conqueror study. All of the DNA records that made it into the final paper were R-L21*, which is downstream from R-P312. Unfortunately, for the R-x folks, that meant that no R-x records made it into the William the Conqueror modal haplotype.

   R-x was rare and it piqued my curiosity. I wanted to know how they fit into the bigger picture, where they came from and maybe connect them to a part of history. I’ve had some good success with geographical distribution of y-DNA data based on multiple distance measurements from reference positions (BGM). To start, I collected 26 R-x y-DNA records with close STR marker matches and known or probable SNP matches. Eight of these records were directly from the R1b1a2a1a website group data. The records were processed to determine time to most recent common ancestor (TMRCA). The neighbor-joining method was run on the results to create a phylogenetic tree.

Figure 2 – Phylogenetic Tree – R-L11*/P310* (xU106, xP312)

   Each of these records were picked because they also contained self-reported ancestral origins. The records were mapped based on these origins and a range calculated from the TMRCA was drawn as a radius representing distance to a common ancestor. See “Getting More” for additional details.

Figure 3 – Generalized Migration Flow – R-L11*/P310* (xU106,xP312)

   Migration direction is determined from phylogenetic connections. The orange arrows represent the primary migrations from the South Baltic region starting 2,000 years ago ± 200 years. The destinations for these migrations were into Scandinavia and along the Rhine River. The yellow arrows represent secondary migration events ending about 1,000 years ago. The results validate the R-x group’s origin locations (Pomerania, former Prussia and Denmark) and adds the Rhine River as a secondary origin. This is not the endgame. This just gets us 2,000 years into the past. Additional records need to be identified to push us back another 1,000 or so years. Where were the R-x ancestors before they were in the South Baltic?

   The third brother remains unnamed. Perhaps his name is R-DF100. The SNP hunters, those folks that are finding new SNPs every day, need more R-L11*/P310* (xU106,xP312) samples in order to identify a defining SNP. I’d also love to see better techniques of determining the age of a genetic branch. Someday we will know the name and the birthdate of the third brother.


Reference:
Maglio, MR (2014) Y-Chromosome Haplotype Origins via Biogeographical Multilateration (Link)

© MRMaglio 2014

Tuesday, November 20, 2012

Stephen Hopkins: Saxon DNA?


   As we approach Thanksgiving, it’s a great time to write about our Mayflower ancestors.  So far, I have found two on my wife's side, Stephen Hopkins and Stephen Hopkins.  Ok, that’s really just one, but I have two lines that trace back to him.   This isn’t unusual, estimates put the count of Stephen Hopkins’ descendants at about 2 million Americans.  

   What can Stephen Hopkins’ DNA tell us about his origins and his ancestors?  First, I should say that no one has a sample of Stephen’s DNA.  What we know about Stephen comes from tests completed by his male-line descendants with corroborating genealogical paper trails.  The Hopkins families are members of y-DNA haplogroup R1b, the largest genetic population in Europe.  R1b is often associated with the Celtic and Gallic tribes.  Hopkins’ DNA may be able to shed additional light on his birthplace, extend his genealogy further by tapping into an older family line or tell us about his deep ancestral origins.

   One of the first things I like to do is compare the haplotype, (the numeric markers from a y-DNA test) against a public database like ySearch.org.  The goal is to find other parallel lines of Hopkins with ancestry that predates Stephen.  This would allow us to work forward in time, connecting to Stephen and his father John, breaking through the current brick wall.  Unfortunately, no such records exist.

   What we do get from ySearch is list of genetic cousins and their ancestral locations.  Plotting these locations generates a distribution from Kent to Cornwall across southern England.  The highest concentration of cousins is in the historic Anglo-Saxon kingdom of Wessex.  The current research on Stephen Hopkins has him baptized in Hampshire, the heart of Wessex.
 
   What kind of R1b was Hopkins?  Was he a Celt, a Gaul, an Anglo-Saxon or something completely different?  One way to get close to the answer is to look at his genetic cousins again.  Since R1b is such a large group, it is important to focus on both the haplotype and SNP that defines his R1b subgroup.  The SNP that best defines Stephen is S493, which on the 2012 haplogroup tree is R1b1a2a1a1a2.  With the explosion of new SNPs identification and the rapidly expanding and changing subgroup nomenclature, researchers are advocating the use of the SNP rather than subgroup as a naming convention.  Let’s call Stephen Hopkins R-S493.

   When I take all these genetic cousins and run them through TribeMapper®, a pattern forms.  Ancestors start to pile up on either side of the English Channel and an approximate date of migration emerges.  Here’s where we pull out our history books.  If the date were about 2,500 years ago, I would say this was a Celtic migration.  If the date were 2,000 years ago, I might say these were Gaels fleeing the Romans.   The calculations come out to be about 1,500 years ago, putting this migration in line with the Anglo-Saxon invasion of Britain.

   Why stop there?  What flavor of Anglo-Saxon are we talking about?  Angle, Saxon, Jute?  The great thing about tribe mapping is that we can continuously turn back the clock and get a new picture.  If we find a Danish connection, then we might say Jutes or an association to the Angeln region of Germany, we could say Angles.  We have to be careful as those names and locations were just a snapshot in time when ancient historians catalogued Germanic tribes.  Those tribes, like all tribes, were just passing through.

   Stephen Hopkins’ DNA points to a genetic cluster in modern day Lithuania and Latvia.   This data most closely correlates to the Saxons and their origins on the Baltic coast.  Continuing this process gives us the following migration map.


   The R-S493 data takes us through Finland, Sweden and back to the mainland Europe to the Iberian Peninsula.  This puts the origin of R-S493 in Iberia about 4,000 years ago ± 500 years.

   We can’t be certain that Stephen Hopkins has Saxon DNA.  We can’t even say that all Saxons were haplogroup R1b.  It’s unlikely that they were a single homogenous ethnic group, but the core of the tribe would have had strong familial and genetic ties.  Were Hopkins’ ancestors at the core of this tribe or part of the fringe, picked up along the way?  A broader study of DNA associated with the same places and times would be required to answer that question.

   If we look at the surname Hopkins, its origins are from Hobbes-kin and even further back to the Germanic name Hrodberht.  Stephen Hopkins and his closest genetic cousins are found in the historic Kingdom of Wessex (West Saxons).  Time-wise, there is a correlation to the Anglo-Saxon invasion of Britain.  We can even make a connection to the proto-Saxons along the Baltic coast.  I’m going out on a limb and calling Hopkins a Saxon.

   That Saxon bloodline remained adventurous and served Stephen well as he voyaged to Bermuda, Jamestown and Plymouth colony.

   It’s never obvious where DNA will lead.  Each tribe mapping is an adventure in itself.


© Michael R. Maglio and OriginsDNA