Getting More From Your Autosomal DNA: Genetic Family Trees

   For years, genealogists have been able to use Y-DNA to validate paternal pedigrees and sort surnames into family groups.  This has been a great advantage for the world of genealogy, but it has been restricted to men and paternal lines.  Autosomal DNA is more inclusive.  Both women and men can take this test and it illuminates the entire family tree as opposed to just the male line.  For those of us that have taken an autosomal test, there are a number of tools that help find cousin matches.  When we find multiple cousins matching the same chunk of DNA, we reach out to our new cousins and attempt to find a common ancestor in our trees.  Many times this is unsuccessful due to incomplete trees.  This is what is called a bottom-up approach.

   What if we used a top-down approach?  What if we started with your 10^th great-grandmother?  You’d say autosomal DNA can’t go back that far.  That’s 12 generations ago and the DNA would be diluted to less than 1% of the original amount.  If autosomal DNA behaved mathematically, you’d be correct.  Autosomal DNA behaves more like Legos.  When we inherit DNA from our parents, it’s true that we get 50% from mom and 50% from dad.  That’s where the fairness ends.  When we look at what we inherit from our grandparents (through our parents), it is never 50/50.

   Instead, what we get from our grandparents is a random split.  In the case of the illustration above, this grandchild received a 54/46 split.  This is not uncommon.  See this Slate article.

   Our chromosomes behave like building blocks.  There is a tendency for genes located closely on a chromosome to be inherited together in a block.  This is called gene linkage.  There is no set size for these blocks; size is completely based on the genes that tend to stay together.  Segments around the 2 cM (centiMorgan) size have been found consistently (American Journal of Human Genetics).  The DNA we get from our grandparents come to us in large contiguous sections of hundreds of these blocks.  From generation to generation, the large sections are inherited randomly and unfairly, but the building blocks have a tendency to stay intact and not recombine.  With each generation, there is 50% chance of inheriting or not inheriting a specific block. 

   It’s possible that these 2 cM building blocks are about 25 generations old.  So, when we start with our 10^th great-grandparents, they have lots of these blocks that they inherited from their parents and gave to their children.  What we can expect is that their descendants will have an assortment of these blocks from them and other ancestors.  When we examine the autosomal DNA for two dozen of their descendants, we find a set of genetic blocks in common.  No one descendant will have all the available genetic blocks an ancestor has left in the gene pool.  We may find five descendants sharing a block on chromosome one and seven descendants sharing a block on chromosome 12.  With DNA samples from two dozen descendants, about 15 ancestral genetic blocks can be identified.  All of the ancestral genetic blocks taken together uniquely identify your 10^th great-grandparents as a couple.  Only their descendants would have this genetic block combination.  (Except in the situation where one set of siblings marries another set of sibling from a different family.)

   When we take the process a step further and analyze the next generation, we start to build a genetic family tree.

The table above shows the genetic blocks identified for Stephen Hopkins and each of his children that had descendants.  For simplicity, only one individual is listed for each column.  Remember that each column of genetic blocks actually represents a married couple: Constance Hopkins and Nicholas Snow, Deborah Hopkins and Andrew Ring, etc.  Each genetic block has a chromosome number and start and end locations.  Blocks in green represent inherited blocks from Stephen to his children.  As we build a genetic family tree, it now becomes possible to take a DNA sample from a living individual and match with Stephen Hopkins.  Once a match with Stephen is found, matches to his children can be checked to see which child the sample descends from.  Generations can be added to the genetic tree until known descendant DNA data has been exhausted.  In the Hopkins family, I was able to extend Constance’s line by a generation to Mary Snow and then then to Mary’s daughter, Mary Paine, before the data ran out.

   Similar to Y-DNA, these sets of genetic blocks (autosomal haplotype) can be used to identify genealogical relationships and sometimes the lack of relationships.  John Hopkins of Connecticut has often been connected as a son of Stephen Hopkins.  When we generate the autosomal haplotype for John and compare it to Stephen, we can see that there is no relation across the board.

   The red blocks indicate John’s DNA segments that have no corresponding segments with Stephen.  The yellow blocks indicate a similar chromosome location, but no genetic match.  Y-DNA gives us the ability to use DNA to see how brothers are potentially connected.  Now autosomal DNA gives us the ability to see how brothers and sisters are potentially connected.

   The autosomal haplotyping process is not a silver bullet that will solve all of our genealogy problems.  It will add to our toolkit as we validate family trees, work through brick-walls and attempt to solve genealogy mysteries.

Reference:

Maglio, MR (2015) Autosomal Haplotypes and the Genetic Reconstruction of Family Trees (Link)

© 2015 Michael Maglio and OriginsDNA. All Rights Reserved.

Breaking Through the Autosomal DNA Generation Barrier: Connecting to Distant Ancestors

   There has been much debate over the use of small autosomal DNA segments.  It is important to understand where they come from and how they can be used for genetic genealogy.  Small segments are considered noise and false matches.  There are too many small matches to make sense out of, but they are not necessarily false matches.  These segments have been in the population for longer than we thought.  When I match someone at 2 cM it is very likely that they are a 12^th cousin, not a 5^th cousin.  There is no reason for us to look for small segment matches until we understand where these segments originated.

   When we talk about autosomal DNA, we often over simplify the process of genetic inheritance.  The simple answer is that we inherit half of our DNA from dad and half from mom.  The common message is that with every generation the DNA contribution from an ancestor is randomized and reduced until it is insignificant.  Genetic inheritance is actually much more complex than that.  Complex in a great way.  There is a tremendous amount of ancestral information that we are just beginning to tap into.

   We inherit DNA from our parents and their ancestors in large sections.  Take a look at the graphic below.  Each example is the comparison of a grandchild to a set of paternal grandparents.  You can see in the first example that the grandchild inherited over two-thirds of their grandfather’s first chromosome intact (blue bars).  The remaining section of the first chromosome is from their grandmother.  In the third example, the grandchild has inherited the entire chromosome 14 from their grandmother.  It is physically possible that this grandchild could someday give one of their children the grandmother’s complete chromosome 14.  

In an effort not to over simplify, this is just half the story.  That grandchild has an equal contribution from their maternal grandparents. 

   In the examples above, we can visualize what happens when DNA recombines.  The first example shows where one section of the grandfather’s DNA swapped places with the grandmother’s DNA before it was inherited by the grandchild.  This is called crossover.  In the examples, a) is a single crossover, b) is a double crossover and c) has no crossover.  On average, each of our chromosomes experienced 2 or 3 crossovers before we inherited them.

   Where DNA crossover takes place on a chromosome is not random.  There are approximate locations where the chromosome is more likely to split.  These locations are cleavage sites. 

These locations exist because there are groups of genes along a chromosome that have a tendency to stay together.  These groups are part of gene linkage.  These linked genes only allow for chromosome splits at either end of their linked section.  In my research, the minimum size for one of these gene-linked sections is about 2.5 cM.  These small segments then travel in larger groups.

   In the graphic above, the blue bar represents about a 60 cM match.  The intersection between the black and orange ovals is about 2.5 cM and represents a minimum segment.  In this crossover recombination, the large segment actually split to the right of the minimum segment.  In a future crossover, the chromosome could split on the left side of the minimum segment, giving a large segment bound by the orange oval.

   Why are these minimum segments important?  My research shows that these segments stay in the gene pool for dozens of generations.  Over time, naturally occurring SNP mutations take place.  These minimum inherited segments (MIS) can be differentiated into family groups.

   In my research, I started with 28 well known US colonial surnames and 393 autosomal kits.  For each surname, the associated kits were triangulated.  If three or more kits match on the same segment, you can deduce that it came from a common ancestor.  Each of the surnames investigated had 6 to 13 distinct triangulated segments.  Taken together, these triangulated ancestral segments represent an autosomal haplotype that can be used to identify a descendant’s genetic connection to an ancestor.  Across all of the surnames, these distinct segments appear at recurring locations on each chromosome.  I have listed 21 of these ancestral loci in my paper.

   Not all ancestral segments are the same type.  The segments can be categorized into three groups.  The first category is Common to All.  The surnames in this study are predominantly European.  One segment has been identified on chromosome 2 that triangulates across all surnames.  This segment correlates to a Western Atlantic ethnicity and I call it the Western Atlantic Autosomal Haplotype (WAAH).  The Western Atlantic Autosomal Haplotype should not be confused with ancestry informative markers (AIMs).  The WAAH is composed of about 800 SNPs and there are only about 100 AIMs SNPs in that same stretch of chromosome 2.

   The next category is Shared.  Some segments can be attributed to two or more surnames.  There was considerable intermarriage between US colonial families.  That period was a bottleneck genealogically and genetically.  As two major families married, their combined DNA segments entered the gene pool and were reinforced as their descendants intermarried. 

   The third category is Unique.  These shared segments cannot be attributed to intermarriage of families.  Yet the resulting familial autosomal haplotypes are not composed of a single surname.  In the case of Benjamin Franklin, the genetic proximity to his wife, Deborah Read and his mother, Abiah Folger, may make it impossible to distinguish between Folger, Franklin and Read DNA.  Therefore, the haplotype represents the combined inheritance.  

   Here is one of my case studies.   Augustine Bearse was born in England in 1618 and died in Barnstable, MA before 1697.  The Bearse family was chosen due to my familiarity with the genealogy and the debate surrounding Augustine’s wife.  His wife Mary was supposedly the granddaughter of the Chief of the Cape Cod Native American tribes.  The goal was twofold;  to identify the autosomal haplotype for the Bearse family and determine whether any of the ancestral segments had Native American ethnicity.

   The Bearse study was composed of 48 autosomal samples.  These samples were collected based on claimed genealogical connections.  The triangulated samples generated 8 ancestral loci and indicated an additional 5 loci that had the potential to triangulate with more samples.  The resulting Bearse autosomal haplotype is found below.

Bearse Autosomal Haplotype

   The Bearse haplotype contains the Western Atlantic Autosomal Haplotype (chromosome 2) which is common to all haplotypes in the study.  The other 12 loci are more valuable for genealogical validation.  One of the Bearse descendants triangulates on six of the ancestral segments.  It is highly unlikely that a descendant would match on all of the segments.  Although ancestral segments survive over the generations, the randomness of their distribution makes it difficult for any one person to have received them all.  Yet, triangulating on just one segment unique to Bearse is enough to indicate and validate a relationship.  Lack of a match could mean that an ancestral segment was not inherited or that a non-familial event (adoption, infidelity, etc.) has occurred and the individual’s family tree is incorrect.

   In order to investigate the origins of Augustine’s wife Mary, each ancestry segment from the haplotype was evaluated for ethnicity.  Only the segment on chromosome six at location 55850885 had any Native American ethnicity.  This ancestral segment had not fully triangulated, yet a few of the samples match exactly on Native American SNPs.  With additional samples, the segment could triangulate.  Once validated, the segment might be shared across multiple surnames or unique to Bearse, indicating Native American genes in the Bearse descendants.

   While the amount of autosomal DNA received by each successive generation is only half from each parent, that does not mean that given enough generations a distant ancestor’s genetic contribution will become negligible.  Through genetic linkage, portions of DNA are inherited intact.  Naturally occurring cleavage sites allow for ancestral segments averaging 2.5 cM to be passed from generation to generation as a minimum inherited segment (MIS). 

   Ancestral segment analysis is invaluable for the identification of distant ancestors.  All of the triangulated ancestral locations combine to become a Familial Autosomal Haplotype (FAH) that can be used to validate family history.

   Since finishing my initial research, I have gone on to identify over 50 ancestral loci and over 700 autosomal haplotypes for US colonial ancestors.  Stay tuned for further advances in autosomal research.

References:

Maglio, MR (2015) Minimum Inherited DNA Segment Size and the Introduction of Familial Autosomal Haplotypes (Link)

Website:

www.OriginsConnector.com

© 2015 Michael Maglio and OriginsConnector.  All Rights Reserved.

The DNA of Thomas Jefferson: [Insert Shocking Title Here]

   I’ve been creative with the titles of my articles in the past. It is the first thing people see and it better be eye catching. It’s been said that I'm ‘intentionally provocative’. I enjoy writing about topics that make people think. I draw the line at faulty logic. Many times, I'll draw conclusions from circumstantial evidence, but I always strive for a logical argument.

   Thomas Jefferson was part of the rare y-DNA haplogroup T (formerly K2) and much has been written about his genetics. Not everything written has been logical in its assumptions. Sometimes the story lines misinterpret the underlying science.

“Was Thomas Jefferson the first Jewish President?”

“Thomas Jefferson was Phoenician.”

“If Jefferson was Phoenician, then Charlemagne was also.”

“Thomas Jefferson could have recent origins in the Middle East.”

“Thomas Jefferson’s DNA traced back to Egypt.”

   In these situations the writers took a single data point and ran with it out of context.

   When we look at Jefferson’s DNA and compare it to available records, we only get a handful of matches that don’t tell a complete story. Let’s look at the first headline – was Jefferson Jewish? He didn’t practice Judaism and he wasn’t raised Jewish. He does have one genetic cousin who is a Moroccan Jew, but you have to go back about 2,000 years to find a common ancestor. While haplogroup T does have origins in the Middle-East, I wouldn’t say that it is definitely a Jewish haplogroup. If Jefferson were J1b2, there would be a stronger case tying him to the kohanim Jewish paternal lines. Jefferson also has a Belgian genetic cousin. Perhaps the headline should have been – Was Thomas Jefferson the first Belgian President? Not that exciting. Probably wouldn’t have sold very well.

   Thomas Jefferson was a Phoenician! There are many articles attributing this statement to Spencer Wells as part of his In Search of Adam program in 2005. I can’t find one quote that actual has Wells saying this. In fact in 2008 Wells argued that the Phoenicians were haplogroup J2. Jefferson’s haplogroup T is found in the same places and at the same times as the Phoenician Mediterranean colonies. This may indicate that Jefferson’s ancestors travelled with the Phoenicians as a peer or as a slave. I don’t think that ethnicity by association works.

   If Jefferson was a Phoenician, then so was Charlemagne. This is just plain and simple poor logic and a misunderstanding of genetics. As I mentioned, it doesn’t appear that haplogroup T is Phoenician. While Jefferson may be a descendant of Charlemagne, he is not a direct male descendant. You really need to be a direct male descendant to prove that an ancestor has the same y-DNA. One sample would never be enough to prove Charlemagne’s DNA. Multiple descendant samples and very strong genealogies are required to come close to determining an ancestor’s DNA. You never know where a non-paternal event may pop up.

   Could Jefferson have recent origins in the Middle East? This writer never actually defines recent. We are left to wonder if the Jeffersons lied on their Naturalization applications. Based on ‘time to most recent common ancestor’ calculations, I’d put Jefferson’s ancestors in the Middle East about 3,000 years ago. I guess that’s fairly recent compared to the age of the universe.

   Jefferson’s DNA traced to Egypt! One record match does not make an origin. That one Egyptian genetic cousin actually clusters better with other Moroccan records. This could indicate a back migration from Morocco to Egypt for that one person. A rule of thumb when determining origins is to find clusters of records. Jefferson does have a cluster on either side of the Strait of Gibraltar. This provides a strong argument that Jefferson’s ancestors came through that region and perhaps loitered there for a while. That doesn’t make it his origin.

   How should we define Jefferson’s origins? It is important to define origins with context. Where in Britain did the Jeffersons come from? One biographer puts Jefferson’s family origins in Wales.  Jefferson’s closest British genetic cousin comes from Yorkshire and the Jefferson surname has the highest distribution in Yorkshire. We are still talking about a single point of reference, so I won’t fall into the same trap and pronounce Thomas Jefferson a Yorkie. I can say that it appears that the Jeffersons were British and that the family had been in Britain for at least a 1,000 years. There’s just not enough data to be more certain.

   Jefferson’s tribal DNA does leave a sparse trail of breadcrumbs across Europe in the 1,500 to 2,000 years ago range. There are genetic matches that become increasingly more distant in Belgium, France and Spain. We could connect-the-dots and we probably wouldn’t be far off the migration path. For Jefferson’s European origins, we might say his ancestors were Iberian. If we go back another 500 years, the picture changes to a culture that traveled the Mediterranean. The genetic breadcrumbs are in Morocco, Sicily, Cyprus, Egypt and Turkey. We could talk about Jefferson’s haplogroup T origins. A cluster of data suggests a southern Arabian Peninsula origin about 8,000 years ago.

   If we continue backward in time, Jefferson’s ancestors came from East Africa just like everyone else on the planet. Which ‘origin’ you choose for Jefferson is completely up to your specific agenda. I use genetic genealogy to get a better understanding of the world that we live in and the things we have in common as one species. We may learn through DNA that our ancestors sacked Rome or pillaged the coast of England. That’s history, that’s fascinating, but that’s not who we are today. Unless you personally choose to embrace that history. Jefferson’s distant ancestors may have been Jewish, Phoenician or Egyptian, but that’s not who he was.

   We shouldn’t persecute for the sins of our ancestors or sit on the laurels of their accomplishments. We need to keep moving forward in a positive direction.

#gDNA

Myles Standish: Mayflower DNA

My genealogy has one Mayflower passenger, Stephen Hopkins. Seven other passengers are cousins in one manner or another, Doty, Howland, More, Mullins, Standish, Warren and Winslow. Twenty-four of the Mayflower families have living descendants. I have collected the y-DNA records for fifteen of them. (For more on this process watch this short video) It was no surprise to find eight R1b Celts and four I1 Scandinavians among them. But, the three I2a Balkans intrigued me.

The one name that stood out as I2a was Myles Standish. Every first grader knows that name. My first thought was that Myles was descended from a member of the Roman Legions. Perhaps he was a Scythian or Sarmatian. I needed to identify the Standish family tribe and when they arrived in England. If I was lucky, I’d be able to bracket the immigration of his ancestor to the 1st or 2nd century, the height of the Roman conquest.

As the DNA records started to compile using TribeMapper® analysis, an initial pattern developed showing historic habitation on either side of Hadrian’s Wall. This was the beginning of a great migration story and potentially the end to the dispute of Myles Standish’s origins. Researchers have placed Standish’s birthplace as either Lancashire or the Isle of Man. Based on the data, Lancashire emerges as the most likely location. There was no genetic indication that the Isle of Man was a possibility.

If Standish’s ancestors had been conscripted into the Roman Legion, then I would expect their migration pattern to appear scattered like a diaspora. Fathers and brothers and their descendants would be spread across the Roman empire. There would be no focus for the data points representing the period 2,000 years ago.

The actual data points told a different story. They remained focused. At the end of the last ice age, about 10,000 years ago, Myles Standish’s ancestors were living in the Balkans. As the ice receded, they journeyed up the Danube River, a major migration highway, until they reached the upper Rhine. The upper Rhine was a Neolithic way station for many tribes coming up the Danube or out of Iberia. The area served as a stopover before continuing over the Alps or down the Rhine. The Standish tribe chose to follow the Rhine down to the North Sea.

Between 2,000 and 3,000 years ago, Standish’s ancestors crossed into England and made their way up the Thames to its source. My theory is that they were pushed ever westward by successive waves of immigrants. They found Wales to be well populated already and ventured north to where we find the most recent genetic evidence, in Lancashire.

My initial theory that Standish’s ancestor was brought to England as part of the Roman Legion, to reinforce the troops at Hadrian’s Wall, was wrong. It is always good to have a theory to work toward, but don’t let preconceived ideas get in the way of new evidence. Now that we know that Standish’s origins are pre-Roman we can consider that his family is one of the native tribes of Britain. The most likely Lancashire tribe would be the Setantii, which is a sub-tribe of the Brigantes.

Each one of our ancestors has a unique migration story to tell. Their travels overlap with events that we have read about in history books.

Where did you come from?

© Michael R. Maglio and OriginsDNA

The DNA of John Cutter West: Connected and Disconnected

   Bill West, author of the blog series ‘West in New England’, has been writing about his ggg-grandfather, John Cutter West, for over five years.  Bill calls him ‘The Elusive John C.’
                                             

   Some genealogies connect John Cutter West as the son of Paul West and Hannah Crowell of Liverpool, Nova Scotia.  It has also been suggested that he could be the grandson of Josiah West and Elizabeth Griffith of Plymouth, MA.  Both Paul and Josiah are descended from Francis West of Salisbury, England who immigrated to Duxbury, MA.

   Bill West completed a 37-marker y-DNA test and his results came back as haplogroup J2.  Multiple descendants of Francis West have also been tested.  Their results indicate that Francis West was a member of haplogroup R1b.  Bill is related to Francis West in the same way that J2 is related to R1b, but you have to go back 40,000 years ago to find that family connection rather than 400 years.  DNA results can be a double-edged sword.  They can prove your connection or just as easily disprove your assumptions.

   One of the most exciting events in DNA testing is when you receive your results showing multiple matches with your surname.  If you have already researched a dozen generations, the test is confirmation.  If you are just getting started, the test connects you with cousins.  Or, if you were adopted, getting matches to multiple records with a surname you weren’t expecting will lead you on a path of discovery.  In a survey of major DNA databases, Bill’s genetic record didn’t have any close matches.  The wonderful part of y-DNA testing is the ability to dig deeper.

   Here is what we do know about Bill’s DNA.  Haplogroup J2 has origins in Mesopotamia about 18,500 years ago and it is associated with speakers of the Semitic languages.  The J2 haplogroup is widespread around the Mediterranean with connections to both Arabs and Jews.  Bill’s haplotype, the 37-markers from his test, are a genetic fingerprint that can help us find his tribe.

   I've developed a tool, TribeMapper®, which allows me to take a haplotype record and map ancestors across time and place.  One of the first clues we find is that Bill’s haplogroup is more uniquely related to subgroup J2b2.  Only a test looking for SNP M241 can prove J2b2 for certain.  My next step is to map the DNA to determine which J2b2 ethnicity Bill belongs.

   As I look at slices of time, 4,500 years ago Bill’s ancestors were in places like Turkey, Armenia, Syria and Saudi Arabia.  If I look at a branch of Bill’s tribe at about 3,000 years ago, I see a distinct correlation with locations like Cyprus, the coasts of Italy and Spain and the islands of the Azores.  These places match up with the colonies of the Phoenicians.  Phoenicia had origins in what is modern day Lebanon.  They were known for their extensive maritime trading culture. Phoenicians were not only sea travelling merchants with colonies around the Mediterranean, they had trade routes across Europe as well.  Bill’s closest DNA matches were part of a Phoenician branch that headed into central Europe.

   Looking at a period from 1,300 (Bill’s closest match) to 2,000 years ago, we see a pattern of migration into what is modern day Germany and more specifically those genetic connections appear in cities in the Hessen region.  Research into John Cutter West gives the appearance that he has English origins.  The DNA trail ends in southwest Germany.  We are still left with the fact that there are not enough DNA records to fill the gap between now and 1,300 years ago.  It is possible that Bill’s ancestors migrated further, from Germany to England.

   Now it’s time to move from facts to theory.  The closest DNA matches indicate a connection to the Hessen region of Germany.  An avenue worth investigating is whether one of those ancestors was a Hessian soldier that stayed in America after the Revolution.  Perhaps the reason there are no records of John Cutter West before his 1827 marriage record is that he was born under a different name, a more German sounding name.

   Sometimes DNA can help us make all the connections.  In the case of Bill West, he is still disconnected over the last 1,000 years.  That’s a big space of time with plenty of questions.  More folks are being tested every day and the DNA databases are growing.  Today the data shows that Bill has deep Phoenician roots and that those ancestors settled in the German region of Hessen.  Time and more data will help revise and refine this picture of Bill’s tribe.

© Origin Hunters & OriginsDNA

Genealogy Gold: McCarthy DNA

   Sometimes in genealogy, we go for the gold.  We try to figure out how we are descended from Presidents, royalty or other famous people.  In the US, if your last name were Adams, you might ask if you are related to the second President.  With a surname like Stewart/Stuart you could try to research back to UK royalty.  If you are Irish, some of those royal names are O’Neill, O’Brien or McCarthy.

   The last King in Ireland died in the 1600s.  For many of us it is incredibly difficult to go back beyond the 1800s in our Irish genealogy research.  The lack of paper records makes finding that connection to Irish royalty challenging.

   DNA is the next best answer to the lack of records.  Both regional and surname projects can collect enough genetic samples to build family trees.  Not in the same sense as child - father - grandfather etc., more in a phylogenetic sense.  A phylogenetic tree will show how individuals connect back to common ancestors and in turn, those common ancestors trace further back to another common connection.

   I have McCarthy ancestry and like everyone else I have researched as much as possible about one of my surnames.  Historically the surname comes from Carthaigh or Carthach, an 11th century King of Ireland and ancestor of the McCarthy Kings of Desmond (current day Cork and Kerry).  His son, Muireadhach, was the first to take on the Mac Carthaigh name.  Literally the ‘son of Carthaigh’.  In names like O’Neill or O’Brien, the O’ means grandson or descendant.

   Time to go for the gold.  How am I related to the Kings of Ireland?  Which DNA haplogroup do the McCarthys belong?  First, I found that a surname project existed on Family Tree DNA.  Then I started analyzing the data on the McCarthy Surname Study DNA site.  Nothing is ever simple.  There are six different haplogroup represented in the group, E1b, I1, I2a, I2b, R1a and R1b.  There are also four different R1b subgroups.  The site has R1b divided into Group A (SNP R-L21), Group B (SNP R-P314.2), Group C (SNP R-M222) and Group D (misc. others).  I would expect there to be multiple R1b subgroups as it is the most numerous haplogroup in Western Europe.

   Like the Olympics, there can only be one gold medal winner in this event.  Only one (or none) of these groups can be related to the original Carthaigh.  There are many reasons why there are multiple McCarthy haplogroups.  The Administrator of the McCarthy site, Nigel McCarthy, is well aware that there could be non-paternal events and has posted some possible situations where a McCarthy name could have arisen:

“•Soldiers, serfs, or slaves or hostages taken in battle and who remained with their captives, all under the tutelage of a McCarthy king, chief of chieftain, adopting this surname.
•Rape of McCarthy womenfolk by invading forces.
•Other illegitimacy.
•Adoption (e.g. by a chieftain of a sister’s orphaned children).
•Raiders such as Vikings being absorbed, a century or two after they settled in Ireland,  into the group which became the McCarthy family as they became “gaelicised”.
•Stepsons taking the McCarthy name of their new stepfather (early deaths of husbands or wives, and thus remarriages, were common).
•The sons of Cárthachs other than he who died in 1045 forming their surnames in a similar manner (although there is no explicit evidence of this).”
-source McCarthy Surname Study - Background

   Which genes are the royal McCarthy genes?  Other projects have been able to analyze DNA records and come back with an announcement that they have identified the haplotypes of Genghis Khan or Niall, ancestor of the O’Neill kings.  The same methods should work for the McCarthys.  If we consider the McCarthy DNA records as a random sample representing the larger population, then the groups with the larger number of records are more likely to be part of the royal group.  A wealthier family would have had more resources to provide for larger families, allowing for more descendants.

   Looking at the McCarthy site, haplogroup R1b Groups A and B have the most records.  At first glance, the other haplogroups seem to be ruled out for lack of representation.  An analysis of the haplotypes within these haplogroups gives us additional evidence.  The E1b group shows a clear pattern of migration from Greece through Italy, Germany, England and Scotland before arriving in Ireland.  This is consistent with the Alexandrian origin of E1b and the timing fits with Rome’s incursion into the region.

   Haplogroup I2b shows a migration from the Danube River region through Germany, England, Scotland and into Northern Ireland.  They appear to have arrived before the Romans.  Haplogroup R1a originated from Eastern Europe and took a different path via Normandy, Devon/Cornwall, into Ireland through Cork.  Their timing fits the Norman invasion of Ireland about 900 years ago.

   If we calculate the time to most recent common ancestor (TMRCA) for Groups A and B, we see that within each group they are closely related.  For each group, their common ancestor lived about 1,000 years ago, which coincides with Carthaigh’s timeframe.  Comparing the two groups against each other shows a common ancestor over 2,800 years ago.  Both groups have the right ancestral timing.  Group A has DNA that is associated with Southern Ireland and an analysis across a larger R1b tribal haplotype indicates that this group entered Ireland over 2,600 years ago.  The same analysis of Group B indicates that they entered Ireland about 500 years later.  Group A has been in Ireland longer and occupy the ancestral region of Desmond.

   So far, we have circumstantial evidence.  We need something more concrete.  We can get a clue from the historic royal genealogies.  The McCarthys were more than just a royal family.  They were a dynasty.  Along with the surname McCarthy, there were also the Sullivans, Callaghans, Keeffes, Donoghues and Donovans that made up the larger related genetic dynasty.  Looking at each group in the context of the larger genetic pool of records and surnames shows that Group A has a close DNA connection to the dynastic surnames and Group B does not.  This method was a key factor in the O’Neill project.

   The evidence points to Group A as the descendants of the royal McCarthys.  The haplotype for Carthaigh is slightly different from the modal for the McCarthy Project Group A.  Considering the dynastic records, makes the values of DYS576=19 and DYS442=13.

   The pedigree of Carthaigh’s ancestors borders on mythology.  Many Irish pedigrees trace back to Milesius of Spain as the father of the Irish people.  Historians found it easy to dispute these claims as these records often are full of conflicting historical information, a lack of dates and obvious attempts to connect back to the Biblical genealogies.  As with most mythology, the Irish origins contain grains of truth.  Haplogroup R1b, which is predominant in Ireland, has its origins in Iberia (modern day Spain and Portugal).  The McCarthy Group A DNA data can be traced backward in time via STR mutations to their Spanish and Portuguese cousins.  Imagine two brothers at a farewell party on the slopes of the Pyrenees 3,000 years ago.  One brother has decided to go north to seek better fortunes and the other decided to stay behind.  The ancestors of each exist today for us to compare.

   The Irish do have ‘Spanish’ origins.  Some elements of that oral history remained intact over 3,000 years as the Iberian tribe migrated and settled in Ireland.  As with any oral tradition, embellishment can occur, especially when developing a royal pedigree to show divine right.

   McCarthy Group A was not the first Iberian tribe to land in Ireland and certainly not the last.  Group B arrived about 500-1,000 after Group A.  Irish mythology suggests that there were at least four previous waves of immigration to Ireland from the mainland.  The E1b McCarthy ancestors begin to show up around 2,000 years ago with the Roman invasion and the R1a McCarthys are associated with the Norman invasion of Ireland about 900 years ago.

   My next steps are to find my male McCarthy cousins and get them tested.  I’ll look for at least two, one from each of my g-granduncle’s surviving lines.  My McCarthys trace back to Kilmichael Parish in County Cork and my gg-grandfather, Florence McCarthy, has one of those names that repeats throughout McCarthy history.   I look forward to finding out which McCarthy DNA group I belong.

   If you are a McCarthy, please consider DNA testing and joining the McCarthy DNA Project.  Your data will help build a better understanding and a better genetic family tree of the McCarthy groups.  Along the way, we can learn more about our ethnicity and our Irish culture.  You may even want to change your surname back to its original Irish spelling, Súilleabháin (Sullivan), Ceallacháin (Callaghan), Donnchadha (Donoghue), Donnabhain (Donovan) or Mac Carthaigh.

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