Category Archives: mtDNA Discover

The Mystery of the Blue Fugates and Smiths: A Study in Blue Genes and Pedigree Collapse

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The story of the Blue Fugates, an Appalachian family, is quite interesting, from a genetic perspective, a genealogical perspective, and a genetic genealogy perspective.

Who Are the Blue Fugates?

Martin Fugate, supposedly an orphan from France, and his bride, Elizabeth Smith, who had married by 1840, have long been attributed as the progenitors of the Blue Fugate Family of Troublesome Creek, in and around Perry County, Kentucky.

Their descendants were known as “The Blue Fugates” and also “The Blue People of Kentucky” because some of their children and descendants carried a recessive autosomal genetic trait, Methemoglobinemia.

Methemoglobinemia causes the skin to appear blue due to an oxygen deficiency in the red blood cells. Some people only exhibit this characteristic, or even just blue tinges in their fingernails and lips, when they are cold or agitated, such as when infants cry. Yet others are very, very blue.

Inheritance

In order for someone to exhibit the autosomal recessive trait of blueness due to Methemoglobinemia, they must inherit a copy of the gene from BOTH PARENTS. That’s why this trait is so rare.

  • If the parents have only one copy each, they are carriers and will not have the condition themselves.
  • If one parent carries either one or two copies, and the other parent does NOT carry a copy, their offspring CANNOT carry two copies of the mutation and will not be blue.
  • If both parents carry a copy, and both parents pass their copy on to their offspring, the offspring will probably exhibit some level of blueness – from just a tinge when they are cold, ill or or upset, to very, very blue.

I’m not a physician, so I’m not delving into the medical specifics of Methemoglobinemia, but suffice it to say that levels of 10-20% of methemoglobin in the blood produce blue skin, higher levels can produce more severe medical conditions, and levels beneath that may not be visually detectible.

What’s important for the genealogy aspect of this story is that both parents must carry a copy AND pass their copy on for the condition to express in their offspring.

We’ve learned a lot since the 1800s when this was first observed in various members of the Fugate family in Perry County, KY, and since the 1960s when this phenomenon was first studied in the Fugate family and their descendants. To be clear, there are also references to the blue Combs and blue Ritchies in and around Perry County – but the common factor is that they have ancestors that descend from the Fugate family AND the Smith family ancestors, both.

During my research, I’ve proven some of what was initially accepted as fact was incorrect – and I’d like to correct the record. Bonus points too, because it’s just such a great genealogy story!

My Interest

I’ve been inordinately interested in the Fugate family for a long time – but not because of their famous blueness.

The Fugate family has been found for more than 225 years alongside my Cook, Claxton, Campbell, and Dobkins families. First, in Russell County, VA, where Josiah Fugate was granted land along Sword’s Creek in 1801 that adjoined Harry Smith, Richard Smith, and others, including my brick-wall ancestor, Joel Cook. Keep in mind that we have never discovered the birth surname of Joel’s wife or Joel’s parents.

Joel’s daughter, Sarah, married James Claxton about 1799 or 1800 in Russell County, and in February of 1802, James Claxton and Zachariah Fugate, among others, were ordered to view and lay out a new road. They were clearly neighbors, living on the same road, and knew each other well. We don’t know who James’ parents were either.

The Fugates first lived adjacent to the Cook, Riley, Stephens, and Claxton families on Mockason Creek in Russell County, then later migrated with the same group of families to Claiborne County where they lived along the Powell River near the Lee County, VA line, and are very closely associated with the Dobkins and Campbell lines.

Sometime between 1802 and 1805, several Russell County families moved 110 miles down the mountain range and settled together on the Powell River in Claiborne County, TN.  About the same time, others from the same cluster moved to what would eventually become Perry County, KY.

In 1805, the Fugates were ordered as road hands on the north side of Wallen’s Ridge in Claiborne County, the part that would become Hancock County in the 1840s, along with James Claxton and several Smiths.

In 1808, James Claxton witnessed a deed to Henley Fugate and John Riley.

The unsubstantiated family rumor, repeated as fact but with no source, has always been that William Fugate married the sister of my John Campbell. If that were true, tracking the Fugates would help me track my Campbells – yet another brick wall. Hence, my early interest in the Fugate family. Until now, I’ve never solved any part of that puzzle.

In 1827, in Claiborne County, Henry Cook, road overseer, is assigned John Riley, Henly Fugate, William Fugate, Fairwick Claxton (son of James who had died in 1815), and others. These families continued to be allied, living close to each other.

In 1842, William Fugate (1799-1855), born to William Fugate and Sarah Jane Stephens in Russell County, is involved in the estate of John Campbell, born about 1772, who had died in 1838. John Campbell was the husband of Jane “Jenny” Dobkins, daughter of Jacob Dobkins (1751-1835).

William Fugate of Claiborne County signed a deposition in 1851 saying he came to Claiborne County, TN, in 1826. Claiborne County is rugged terrain, located on the south side of the Cumberland Gap, where Virginia, Tennessee, and Kentucky intersect.

In 1853, both William Fugate and Jehiel Fugate are neck-deep in lawsuits surrounding the estate of Jacob Dobkins, who died in 1835, lived on Powell River, and whose daughters married John Campbell and his brother George Campbell

I recently discovered that this William Fugate was born about 1799 in Russell County, VA, and according to his son’s death certificate, William’s wife was Nancy Riley, which makes a lot of sense, given the proximity of these families. I must admit, I’m glad to solve this, but I’m also disappointed that he wasn’t married to John Campbell’s sister.

So, why does any of this matter in the Blue Fugate story?

In part, because I knew decades ago that Martin Fugate, of the Kentucky Blue Fugates, was not an orphan from France who had somehow made his way to the eastern shores of Maryland, then to Perry County, KY by 1820 when he supposedly received a land grant. That land grant date doesn’t square with Martin’s birth year of 1820 either, nor his marriage about 1840, both of which are substantiated by the census.

You can see from the information gleaned from Russell County that the Fugate family was there well before 1800. In fact, a Martin Fugate is shown on the 1789 tax list and other Fugates were there earlier, as early as 1771, according to extracted Russell County records in the book “The Fugate Family of Russell County, Virginia” by David Faris. The Fugate descendants continued to press on westward from there. Fugate, unlike Smith, Cook, and even Campbell, is not a common surname.

“Orphan” stories are often early ways that people said “I don’t know”, without saying, “I don’t know where he came from”, so they speculated and said “maybe he was an orphan.” Then that speculation was eventually passed on as fact.

That might have been happening in Perry County in the 1960s, but in Claiborne County in the 1980s, family members were telling me, “Martin waren’t no orphan,” and would roll their eyes and sigh with great exasperation. You could tell this was far from the first time they had had to combat that story. To be clear, the Fugate family lived down along Little Sycamore Creek with my Estes, Campbell and other ancestral families. In the 1980s, I was finding the oldest people possible and talking to them.

Some records in Russell County, where the Fugates of Perry County, KY, and the Fugates of Claiborne County, TN, originated, did and do exist, so could have been researched in the 1960s, but you would have had to know where to look. No one back then knew that the Perry County Fugates originated in Russell County, so they wouldn’t have known to look there. Research wasn’t easy. If they had known to look in Russell County, they would have had to travel there in person to review records. Early records exist in Perry County, too, but in the 1960s, not even the census was available, and people simply didn’t remember back to the early to mid-1800s.

Truthfully, no one would ever have doubted those early stories that had been handed down. They were revered, in all families, and treated as gospel. Those stories were the only connection they had to their ancestors – and the generations inbetween who passed them on. Nope, no one was going to question what Grandpa or Uncle Joe said.

So, in the 1960s, when the Blue Fugates in Perry and adjacent Breathitt County, KY were first studied by Dr. Cawein and his nurse, Ruth Pendergrass, they gathered oral family history and constructed a family pedigree from that information. They documented who was blue from first-hand eye-witness accounts – which would only have stretched back into the late 1800s, best case.

It probably never occurred to anyone to validate or verify earlier information that was provided. Plus, it would have been considered rude. After all, they weren’t genealogists, and they were trying to solve a medical mystery. The information they collected did not conflict with what was known about the disease and how it was transmitted, so they had no reason to doubt its historical accuracy.

The Mystery of the Blue Fugates?

The Blue Fugates were a family renowned for their blue skin – at least some of them had blue skin. That’s part of what makes this story so interesting.

Originally, it was believed that only one progenitor couple was involved, Martin Fugate and his wife, Elizabeth Smith, but now we know there were two. Maybe I should say “at least two.”

Martin Fugate and his bride, Elizabeth Smith, whose first known child was born in 1841, according to the 1850 census, are progenitors of the Blue Fugate Family of Troublesome Creek, but they aren’t the only progenitors.

Martin was not shown in the Perry County, KY 1840 census, but two Zachariah Fugates are present, 8 Fugate families are found in neighboring Breathitt County, more than a dozen in Russell County and surrounding counties in Virginia, and four, including two William Fugates, in Claiborne County, TN. The younger of the two lived next door to John Dobkins, son of deceased Jacob Dobkins.

Martin Fugate (c1820-1899) of Perry County and his second cousin, Zachariah Fugate (1816-1864), who each married a Smith sister, are both progenitors of the Blue Fugates through their common ancestor, their great-grandfather, Martin Fugate, who was born in 1725 and died in 1803 in Russell County, VA.

Obviously, if Martin (c1820-1899) had a Fugate second cousin who also lived in Perry County, Martin wasn’t an orphan. That knowledge is due to more recently available information, like census and other data – and that’s part of what I want to correct.

In 1948, Luke Combs, from Perry County, KY, took his sick wife to the hospital, but Luke’s blueness caused the medical staff to focus on him instead, thinking he was experiencing a medical emergency. He wasn’t. His skin was just blue. In 1974, Dr Charles H. Behlen II said, ‘Luke was just as blue as Lake Louise on a cool summer day.’ The Blue Fugates were “discovered” by the rest of the world, thanks to Luke, but they were nothing new to local people, many of whom did not welcome the notoriety.

In the 1960s, hematologist Madison Cawein III, with the assistance of Ruth Pendergrass, studied 189 members of the extended Fugate family, treated their symptoms, and published his findings. He included a pedigree chart, but not everyone was keen on cooperating with Dr. Cawein’s research project.

The Fugate family history collected for the study was based on two things:

  • Personal knowledge of who respondents knew was blue
  • Remembered oral history beyond the reach of personal knowledge.

That remembered oral history reported that Martin Fugate and Elizabeth Smith’s youngest son, Zachariah Fugate (born in 1871), married his mother’s (older) sister, Mary Smith, (born about 1820), and had a family. I’ve added the dates and information in parentheses, or they would have immediately known that marriage was impossible. Or, more directly, even if they married when Zachariah was 14, Mary would have been 70 years old, and they were certainly not going to produce offspring. This is the second piece of information I want to correct. That marriage never happened, although people were accurate that:

  • Martin Fugate and his wife, Elizabeth Smith, did have a son named Zachariah Fugate
  • One Zachariah Fugate did marry Mary Smith, sister of Elizabeth Smith

It’s just that they were two different Zachariah Fugates, born 75 years apart. Same name confusion strikes again.

I constructed this census table of Martin Fugate with Elizabeth Smith, and Zachariah Fugate with Mary Smith. They lived next door to each other in Perry County – and it seemed that every family reused the same “honoring” names for their children – and had been doing such for generations.

In the 1960s, when the information was being compiled for Dr. Cawein, the census and other documents that genealogists rely on today were not readily available.

Furthermore, genetically, for the mystery Dr. Cawein was attempting to solve, it didn’t really matter, because it was still a Smith female marrying a Fugate male. I know that it made no difference today, but he wouldn’t have known that then. To track down the source of the blueness, he needed to identify who was blue and as much about their ancestors as possible.

The Zachariah Fugate (1816-1864) who married Elizabeth Smith’s sister, Mary Smith, was Martin Fugate’s second cousin by the same name, Zachariah. Both Martin (c1820-1899) and his second cousin, Zachariah (c1816-1864), married to Smith sisters, had blue children, which helps cement the fact that the responsible genes were passed down through BOTH the Fugate and Smith lines, and weren’t just random mutations or caused by environmental or other factors.

Proof

In case you’re wondering exactly how I confirmed that Martin and Zachariah did indeed marry Elizabeth and Mary Smith – their children’s birth and death records confirmed it. These records correlate with the census.

Unlike most states, Kentucky has some pre-1900 birth and death records.

Wilson Fugate’s birth in February, 1855 was recorded, naming both of his parents, Martin Fugate and Elizabeth Smith.

Martin Fugate and Elizabeth Smith’s son, Henley or Hendley, died in 1920, and his death certificate gave the names of both parents. Betty is a nickname for Elizabeth.

On the same page with Wilson Fugate’s birth, we find a birth for Zachariah Fugate and Mary Smith, too.

Hannah Fugate was born in December 1855.

Zachariah Fugate and Mary Smith’s son, Zachariah died in 1921, and his death certificate gives his parents as Zach Fugate and Polly Smith, a nickname for Mary.

There are more death records for children of both sets of parents.

Both couples, Martin Fugate and Elizabeth Smith, and Zachariah Fugate and Mary Smith, are progenitors of the Blue Fugate family.

Of Martin’s 10 known children, 4 were noticeably “blue” and lived long, healthy lives. At least two of Zachariah’s children were blue as well.

Some people reported that Martin, himself, had deep blue skin. If so, then both of his parents would have carried that genetic mutation and passed it to him.

Unfortunately, color photography didn’t exist when Martin (c1820-1899), lived, so we don’t know for sure. For Martin’s children to exhibit blue skin, they would have had to inherit a copy of the gene from both parents, so we know that Martin’s wife, Elizabeth, also inherited the mutation from one of her parents. Ditto for Zachariah Fugate and Mary Smith. The chances of two families who both carry such a rare mutation meeting AND having two of their family members marry are infinitesimally small.

Dr. Cawein’s Paper

In 1964, Dr. Cawein published his findings, but only with a pedigree chart with no names. What was included was an explanation about how remote and deep the hills and hollows were, and that out-migration was almost impossible, explaining the propensity to marry cousins.

Legend:

  • Measured – Found to have elevated methemoglobin
  • Measured – Found to have decreased methemoglobin
  • Not measured – Reported to be “blue”
  • Measured – Found to be normal

Cawein further stated that data was collected by interviewing family members who personally knew the individual in question and could say if they were actually blue.

Cawein erroneously reported that “Martin Fugate was an orphan born about 1800, landed in Maryland, obtained a land grant in Perry County, KY in 1820, and married a local gal. From 1820 to about 1930, the population consisted of small, isolated groups living in creek valleys and intermarriage was quite common.” Bless his heart.

Later, geneticist Ricky Lewis wrote about the Blue Fugates, sharing, among other things, the provenance of that “blue” family photo that circulates on the internet, revealing that it is a composite that was assembled and colorized back in 1982. She also erroneously stated that, “after extensive inbreeding in the isolated community—their son married his aunt, for example—a large pedigree of “blue people” of both sexes arose.” Bless her heart too.

Dr. Lewis is incorrect that their son married his aunt – but she’s right that intermarriage between the families is responsible for the blue descendants. In colonial America, and elsewhere, cousin marriages were fairly common – everyplace. You married who you saw and knew. You saw your family and neighbors, who were generally your extended family. No left-handed apology needed.

Pedigree collapse, sharing the same ancestors in multiple places in your tree, is quite common in genealogy, as is endogamy among isolated populations.

Today, things have changed somewhat. People move into and out of an area. The younger generation moves away a lot more and has for the past 100+ years. Most people know their first cousins, but you could easily meet a second or third cousin and never know you were related.

While early stories reported that Martin Fugate (c1820-1899) was an orphan from France, mysteriously appearing in Kentucky around 1820, later genealogical evidence as well as genetic research proves that Martin Fugate was actually born about 1820, in Russell County, VA and his ancestors, over several generations, had followed the typical migration path across Virginia into Kentucky.

We’ve also proven that Martin’s son, Zachariah (born 1871) was not the Zachariah who married Elizabeth Smith’s sister, Mary, who was 50 years old when Zachariah was born.

What else do we know about these families?

The Back Story

Compared to the Smith story, the Fugate story was “easy.”

Don’t laugh, but I spent several days compiling information and charting this in a way I could see and understand in one view.

I hesitate to share this, but I’m going to because it’s how I think. I also put together a very basic Fugate tree at Ancestry, here. Many children and siblings are missing. I was just trying to get this straight in my mind.

Click to enlarge any image

This spreadsheet is color-coded:

  • The text of each lineage has a specific color. For example, Fugates are blue.
  • Some people (or couples) are found in multiple descendants’ lines and are duplicated in the tree. Duplicated people also have a cell background color. For example, Mahala Richey (Ritchey, Ritchie) is highlighted yellow. James and Alexander Richey have green text and apricot background because they are duplicated.
  • The generation of parents who had blue children is marked with black boxes and the label “Blue Kids.”
  • Only the blue kids for this discussion are listed below those couples.
  • The bluest person was Luna Fugate (1886-1964).
  • While Luna’s husband, John Stacey, also descended from the Smith/Combs line, only one of their children expressed the blue trait. That child’s lips turned blue when they cried. John and Luna were actually related in three ways. Yes, my head hurts.
  • The last known “blue” person was Luna Fugate’s great-grandchild, whose name I’ve obfuscated.

Ok, let’s start with the blue Fugates on our spreadsheet. You’ll probably want to follow along on the chart.

Martin Fugate (1725-1803) and wife Sarah, had several children, but only two, the ones whose grandchildren married Smith sisters are known to have had blue children.

On our chart, you can see that Martin (1725-1803) is blue, and so is Son 1, William Fugate and Sarah Stephens, along with Son 2, Benjamin Fugate and Hannah Devers. Both William and Benjamin are mentioned in Martin’s estate in 1803 in Russell County, VA.

Two generations later, Martin Fugate (c1820-1899) and Elizabeth Smith had four blue children, and Zachariah Fugate (c1816-1864) and Mary Smith had at least two blue children. Furthermore, Zachariah Fugate’s sister, Hannah (1811-1877), married James Monroe Richie.

The Richey’s are green, and you can see them on both the left and right of the chart. Hannah’s husband descended from the same Richey line that Elizabeth Smith did. It was no surprise when their child, Mahala Ritchie (1854-1922), married Levi Fugate, to whom she was related three ways, they became the parents of a blue child. Their daughter, Luna Fugate, was known as “the Bluest of the Blue Fugates.”

Mahala Ritchie (1854-1922) could have inherited her blue gene (or genes) from either her mother Hannah Fugate, or her father, James Monroe Ritchie, or both. We don’t know if Hannah was blue or not.

We do know that Mahala married Levi Fugate, her third cousin through the Fugate line, and her third and fourth cousin also through the Richie and Grigsby lines, respectively. This is the perfect example of pedigree collapse.

You can see the purple Grigsby lines in the center and to the right of the pedigree chart too, with Benjamin Grigsby, highlighted in blue, being common to both lineages.

Zachariah Fugate (1816-1864) and Mary Smith had at least two blue sons, but I am not tracking them further. Suffice it to say that Blue John married Letha Smith, his first cousin, the granddaughter of Richard Smith and Nancy Elitia Combs. Lorenzo, “Blue Anze”, married a Fugate cousin, so it’s no surprise that Zachariah and Mary were also progenitor couples of the Blue Fugates.

Martin’s son, Levi Fugate, married Mahala Ritchie, mentioned above, and had Luna Fugate who would have been personally known to Dr. Cawein. Luna, pictured above, at left, was known as the bluest of the Blue Fugates.

Luna married John Stacey who some thought wasn’t related to Luna, so it was confusing why they had one child that was slightly blue. However, John turns out to be Luna’s second cousin, third cousin once removed and first cousin once removed through three different lines. His great-grandparents were Richard Smith and Nancy Combes. Since one of their children had a slight blue tinge, John, while not visibly blue himself, clearly carried the blue gene.

Where Did the Blue Gene Come From?

The parents of Elizabeth Smith and Mary Smith were Richard Smith and Nancy (Eletia) Combs. His Smith ancestors include both the Richeys and Caldwells.

James Richey (1724-1888) married Margaret Caldwell (1729-1802) and his father, Alexander Richey (1690-1749) married Jeanne Caldwell (1689-1785). While the Caldwell females weren’t closely related, Jeanne was the daughter of Joseph Alexander Caldwell (1657-1730) and Jane McGhie, and Margaret Caldwell (1729-1802) was the great-granddaughter of that couple. The Caldwells are shown in magenta, with both Richey/Caldwell couples shown as duplicates. The Richey are highlighted in apricot, and the Caldwell’s with a light grey background. It was difficult to show how these lines connect, so that’s at the very top of the pedigree chart.

When just viewing the Smith-Combs line, it’s easier to view in the Ancestry pedigree.

The Smith, Richey, Combs, Grigsby, and Caldwell lines are all repeated in different locations in the trees, such as with Hannah Fugate’s husband. These repeated ancestors make it almost impossible for us to determine where in the Smith ancestral tree that blue gene originated.

We don’t know which of these ancestral lines actually contributed the blue gene.

Can We Figure Out Where the Blue Gene Came From?

How could we potentially unravel this mystery?

We know for sure that the blue gene in the Fugate side actually descends from Martin Fugate who was born in 1725, or his wife, Sarah, whose surname is unknown, because their two great-grandchildren, Martin (c1820-1899) and Zachariah (1816-1864) who both married Smith sisters had blue children. For those two intervening generations between Martin Fugate (1725-1803) and those two great-grandsons, that blue gene was quietly being passed along, just waiting for a blue Fugate gene carrier to meet another blue gene carrier. They found them in the Smith sisters.

None of Martin (1725-1803) and Sarah’s other children were known to have had any blue children or descendants. So either they didn’t carry the blue gene, or they didn’t marry someone else who did – that we know of.

We can’t tell on the Smith side if the blue gene descends from the Smith, Richey, Grigsby or Caldwell ancestors, or maybe even an unknown ancestor.

How can we narrow this down?

If a Fugate in another geographic location married someone from one of these lineages, say Grigsby, for example, and they had blue offspring, and neither of them shared any of the other lineages, then we could narrow the blue gene in the Smith line to the Grigsby ancestor.

Unfortunately, in Perry and surrounding counties in Kentucky, that would be almost impossible due to intermarriage and pedigree collapse. Even if you “think you know” that there’s no connection through a third line, given the deep history and close proximity of the families, the possibility of unknown ancestry or an unexpected parent is always a possibility.

Discover

While the blue gene is not connected to either Y-DNA or mitochondrial DNA, we do have the Fugate’s Y-DNA haplogroup and the Smith sisters’ mitochondrial DNA.

Y-DNA

The Big Y-700 haplogroup for the Martin Fugate (c1820-1899) line is R-FTA50432, which you can see, here..

You can see the Blue Fugate Family by clicking on Notable Connections.

If you’re a male Fugate descendant who descends from anyone other than Martin Fugate (c1820-c1899), and you take a Big Y test, you may well discover a new haplogroup upstream of Martin (c1820-1899) that represents your common Fugate ancestor.

If you descend from Martin, you may find youself in either of the two haplogroups shown for Martin’s descendants, or you could split the line to form a new haplogroup.

We don’t have the mitochondrial DNA of Martin Fugate (c1820-1899), which would be the mitochondrial DNA of his mother, Nancy Noble. We also don’t have the the mtDNA of Mary (Polly) Wells, the mother of Zachariah Fugate (c1816-1864). If you descend from either of these women in a direct matrilineal line, through all women, please take a mitochondrial DNA test and reach out. FamilyTreeDNA will add it as a Notable Connection.

We do, however, have the mitochondrial DNA of Elizabeth and Mary Smith

Mitochondrial DNA of Elizabeth and Mary Smith

The mitochondrial DNA of both Elizabeth and Mary Smith follows their mother’s line – Nancy Combs through Nancy (Eletia?) Grigsby. Nancy’s mother is unknown, other than the possible first name of Margaret.

Nancy Grigsby’s descendant is haplogroup K1a61a1, which you can see here.

The Blue Fugates show under Notable Connections.

The Smith sisters’ haplogroup, K1a61a1, tells us immediately that their ancestor is European, eliminating other possibilities.

The time tree on Discover is quite interesting

Haplogroup K1a61a1 was formed about the year 1400. Descendants of this haplogroup are found in the UK, Scotland, England, several unknown locations, and one person who selected Native American, which is clearly in error. Haplogroup K is not Native American.

By focusing on the haplotype clusters, identified by the F numbers in the elongated ovals, our tester may be able to identify the mother of Nancy Grigsby, or upstream lineages that they can work back downstream to find someone who married Thomas Grigsby.

This story is far from over. In fact, a new chapter may just be beginning.

If you’re a Fugate, or a Fugate descendant, there’s still lots to learn, even if autosomal DNA is “challenging,” to say the least, thanks to pedigree collapse. Testing known females lineages can help us sort which lines are which, and reveal their hidden stories.

Other resources if you want to read more about the Fugates: The Blue People of Troublesome Creek, Fugates of Kentucky: Skin Bluer than Lake Louise, Those Old Kentucky Blues: An Interrupted Case Study, and Finding the Famous Paintings of the Blue People of Kentucky.

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Discover’s Ancient Connections – How Are You Related?

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When FamilyTreeDNA released the new Mitotree, they also introduced their new mtDNA Discover tool, which is a series of 13 reports about each haplogroup, including one titled Ancient Connections.

Ancient Connections shows you ancient relatives from your direct matrilineal line through a mitochondrial DNA test or through a Y-DNA (preferably Big Y-700) test.

Ancient Connections help you connect the present to the past based on archaeological excavations around the world and DNA sequencing of remains. Ancient Connections links you through your DNA to ancient people, cultures, and civilizations that would be impossible to discover any other way. You don’t have to wonder if it’s accurate, or which line it came from, because you know based on the test you took. Discover’s Ancient Connections track the journey of your ancestors and relatives.

Ancient Connections can be very exciting – and it’s easy to get swept away on a wave of jubilation.

Are those people your ancestors, or relatives, or what? How do you know? How can you figure it out?

So let me just answer that question generally before we step through the examples, so you can unveil your own connections.

  • You are RELATED to both Ancient and Notable Connections. Notable Connections are famous or infamous people who have lived more recently, and their relatives have been tested to identify their haplogroups.
  • It’s VERY unlikely that Ancient Connections are your direct ancestors – but someone in the line that you share IS your ancestor.
  • Many factors enter into the equation of how you are related, such as the haplogroup(s), the timeframe, and the location.
  • The sheer number of people who were living at any specific time makes it very unlikely that any one person with that haplogroup actually was your direct ancestor. They are much more likely to be your distant cousin.

Factors such as whether you share the same haplogroup, similar locations, and the timeframe make a huge difference. Everyone’s situation is different with each Ancient Connection.

Ok, are you ready for some fun???

Let’s find out how to leverage these tools.

Ancient Connections

Ancient connections are fun and can also be quite useful for genealogy.

In this article, I’m going to use a mitochondrial DNA example because full sequence testers at FamilyTreeDNA just received their new Mitotree haplogroup. mtDNA Discover was released with Mitotree, so it’s new too. However, the evaluation process is exactly the same for Y-DNA.

Everyone’s results are unique, so your mileage absolutely WILL vary. What we are going to learn here is a step-by-step analytical process to make sure you’re hearing the message from your ancestors – and interpreting it correctly.

To learn about your new mitochondrial DNA haplogroup and haplotype, read the articles:

Radegonde Lambert

Let’s start with an Acadian woman by the name of Radegonde Lambert. She’s my ancestor, and I wrote about her years ago in the article, Radegonde Lambert (1621/1629-1686/1693), European, Not Native.

At the time, that article caused a bit of a kerfluffle, along with the article, Haplogroup X2b4 is European, Not Native American, because Radegonde’s X2b4 haplogroup had been interpreted by some to mean that her matrilineal ancestors were Native American.

That often happens when a genealogical line abruptly ends and hits a brick wall. What probably began with “I wonder if…”, eventually morphed into “she was Native,” when, in fact, she was not. In Radegonde’s case, it didn’t help any that her haplogroup was X2b4, and some branches of base haplogroup X2 are in fact Native, specifically X2a, However, all branches of X2 are NOT Native, and X2b, which includes X2b4, is not.

The Acadians were French people who established a colony in what is now Nova Scotia in the 1600s. They did sometimes intermarry with the Native people, so either Native or European heritage is always a possibility, and that is exactly why DNA testing is critically important. Let’s just say we’ve had more than one surprise.

I always reevaluate my own work when new data becomes available, so let’s look to see what’s happening with Radegonde Lambert now, with her new haplogroup and mtDNA Discover.

Sign on and Identify Your Haplogroup

You can follow along here, or sign on to your account at FamilyTreeDNA.

The first step is to take note of your new Mitotree haplogroup.

Your haplogroup badge is located near the bottom right of your page after signing in.

The tester who represents Radegonde Lambert has a Legacy Haplogroup of X2b4 and has been assigned a new Mitotree haplogroup of X2b4g.

Click Through to Discover

To view your personal Discover information, click on the Discover link on your dashboard.

You can simply enter a haplogroup in the free version of mtDNA Discover, but customers receive the same categories, but significantly more information if they sign in and click through.

You can follow along on the free version of Discover for haplogroups X2b4 here, and X2b4g here.

Clicking on either the Time Tree, or the Classic Tree shows that a LOT has changed with the Mitotree update.

Each tree has its purpose. Let’s look at the Classic Tree first.

The Classic Tree

I like the Classic Tree because it’s compact, detailed and concise, all in one. Radegonde Lambert’s new haplogroup, X2b4g is a subgroup of X2b4, so let’s start there.

Click on any image to enlarge

Under haplogroup X2b4, several countries are listed, including France. There are also 7 haplotype clusters, which tell you that those testers within the cluster all match each other exactly.

It’s worth noting that the little trowels (which I thought were shovels all along) indicate ancient samples obtained from archaeological digs. In the Discover tools, you’ll find them under Ancient Connections for that haplogroup. We will review those in a minute.

In Mitotree, haplogroup X2b4 has now branched several granular and more specific sub-haplogroups.

Radegonde Lambert’s new haplogroup falls below another new haplogroup, X2b4d’g, which means that haplogroup X2b4d’g is now the parent haplogroup of both haplogroups X2b4d and X2b4g. Both fall below X2b4d’g.

Haplogroup names that include an apostrophe mean it’s an umbrella group from which the two haplogroups descend – in this case, both X2b4d and X2b4g. Apostrophe haplogroups like X2b4d’g are sometimes referred to as Inner Haplogroups.

You can read more about how to understand your haplogroup name, here.

In this case, haplogroup X2b4d’g is defined by mutation G16145A, which is found in both haplogroups X2b4d and X2b4g. Both of those haplogroup have their own defining mutations in addition to G16145A, which caused two branches to form beneath X2b4d’g.

You can see that Radegonde Lambert’s haplogroup X2b4g is defined by mutation C16301T, but right now, that really doesn’t matter for what we’re trying to accomplish.

In descending order, for Radegonde, we have haplogroups:

  • X2b4
  • X2b4d’g
  • X2b4g

Your Match Page

Looking at the tester’s match page, Radegonde’s haplotype cluster number and information about the cluster are found below the haplogroup. You can view your cluster number on:

  • Your match page
  • The Match Time Tree beside your name and those of your matches in the same haplotype cluster
  • The Scientific Details – Variants page

I wrote about haplotype clusters, here.

Click on any image to enlarge

On your match page, which is where most people look first, you are in the same haplogroup and haplotype cluster with anyone whose circle is also checked and is blue. If the little circles are not checked and blue, you don’t share either that haplogroup, haplotype cluster, or haplogroup and haplotype cluster. If you share a haplotype cluster, you will always share the same haplogroup.

Haplotype clusters are important because cluster members match on exactly the same (but less stable) mutations IN ADDITION to haplogroup-defining (more stable) mutations.

However, you may also share an identifiable ancestor with people in different haplotype clusters. Mutations, and back mutations happen – and a lot more often at some mutation locations, which is why they are considered less stable. Normally, though, your own haplotype cluster will hold your closest genealogical matches.

In Discover, you can see that Radegonde’s haplotype cluster, F585777, displays three tester-supplied countries, plus two more. Click on the little plus to expand the countries.

What you’re viewing are the Earliest Known Ancestor (EKA) countries that testers have entered for their direct matrilineal ancestor.

Let’s hope they understood the instructions, and their genealogy information was accurate.

Notice that Canada and France are both probably quite accurate for Radegonde, based on the known history of the Acadians. There were only French and Native women living in Nova Scotia in the 1600s, so Radegonde had to be one or the other.

The US may be accurate for a different tester whose earliest known ancestor (EKA) may have been found in, say, Louisiana. Perhaps that person has hit a brick wall in the US, and that’s all they know.

The US Native American flag is probably attributable to the old “Native” rumor about Radegonde, and the tester didn’t find the Canadian First Nations flag in the “Country of Origin” dropdown list. Perhaps that person has since realized that Radegonde was not Native and never thought to change their EKA designation.

The little globe with “Unknown Origins” is displayed when the tester doesn’t select anything in the “Country of Origin.”

Unfortunately, this person, who knew when Radegonde Lambert lived, did not complete any additional information, and checked the “I don’t know this information” box. Either Canada, or France would have been accurate under the circumstances. If they had tracked Radegonde back to Canada and read about her history, they knew she lived in Canada, was Acadian, and therefore French if she was not Native. Providing location information helps other testers, whose information, in turn, helps you.

Please check your EKA, and if you have learned something new, PLEASE UPDATE YOUR INFORMATION by clicking on the down arrow by your user name in the upper right hand corner, then Account Settings, then Genealogy, then Earliest Known Ancestors.

Don’t hesitate to email your matches and ask them to do the same. You may discover that you have information to share as well. Collaboration is key.

Radegonde’s Discover Haplogroup

First, let’s take a look at Radegonde’s haplogroup, X2b4g, in Discover.

The Discover Haplogroup Story landing page for haplogroup X2b4g provides a good overview. Please READ this page for your own haplogroup, including the little information boxes.

The history of Radegonde’s haplogroup, X2b4g, is her history as well. It’s not just a distant concept, but the history of a woman who is the ancestor of everyone in that haplogroup, but long before surnames. Haplogroups are the only way to lift and peer behind the veil of time to see who our ancestors were, where they lived, and the cultures they were a part of.

We can see that Radegonde’s haplogroup, X2b4g, was born in a woman who lived about 300 CE, Common (or Current) Era, meaning roughly the year 300, which is 1700 years ago, or 1300 years before Radegonde lived.

  • This means that the tester shares a common ancestor with everyone, including any X2b4g remains, between now and the year 300 when haplogroup X2b4g was born.
  • This means that everyone who shares haplogroup X2b4g has the same common female ancestor, in whom the mutation that defines haplogroup X2b4g originated. That woman, the common ancestor of everyone in haplogroup X2b4g, lived about the year 300, or 1700 years ago.
  • Your common ancestor with any one individual in this haplogroup can have lived ANYTIME between very recently (like your Mom) and the date of your haplogroup formation.
  • Many people misinterpret the haplogroup formation date to mean that’s the date of the MRCA, or most recent common ancestor, of any two people. It’s not, the haplogroup formation date is the date when everyone, all people, in the haplogroup shared ONE ancestor.
  • The MRCA, or most recent common ancestor, is your closest ancestor in this line with any one person, and the TMRCA is the “time to most recent common ancestor.” It could be your mother, or if your matrilineal first cousin tested, your MRCA is your grandmother, and the TMRCA is when your grandmother was born – not hundreds or thousands of years ago.
  • Don’t discount mitochondrial DNA testing by thinking that your common ancestor with your matches (MRCA) won’t be found before the haplogroup birth date – the year 300 in Radegonde’s case. The TMRCA for all of Radegonde’s descendants is about 1621 when she was born.
  • The haplogroup birth date, 1700 years ago, is the common ancestor for EVERYONE in the haplogroup, taken together.
  • Mitochondrial DNA is useful for BOTH recent genealogy and also reveals more distant ancestors.
  • Looking back in time helps us understand where Radegonde’s ancestors lived, which cultures they were part of, and where.

There are two ways to achieve that: Radegonde’s upstream or parent haplogroups, and Ancient Connections.

Parent Haplogroups

X2b4g split from X2b4d’g, the parent haplogroup of BOTH X2b4d and X2b4g, around 3700 years ago, or about 1700 BCE (Before Common (or Current) Era).

Looking at either the Classic Tree, the Time Tree (above) or the Match Time Tree, you can see that haplogroup X2b4g has many testers, and none provide any locations other than France, Canada, the US, unknown, and one Native in the midst of a large haplotype cluster comprised of French and Canadian locations. Due to the size of the cluster, it’s only partially displayed in the screen capture above.

You can also see that sister haplogroup X2b4d split from X2b4d’g around the year 1000, and the ancestors of those two testers are reported in Norway.

Many, but not all of the X2b4g testers are descendants of Radegonde. Even if everyone is wrong and Radegonde is not French, that doesn’t explain the other matches, nor how X2b4g’s sister haplogroup is found in Norway.

Clearly, Radegonde isn’t Native, but there’s still more evidence to consider.

Let’s dig a little deeper using Radegonde’s Ancient Connections.

Ancient Connections

While ancestor and location information are user-provided, Ancient Connections are curated from scientifically published papers. There’s no question about where those remains were found.

When signed in to your account, if you’ve taken the mtFull Sequence test, clicking on the Ancient Connections tab in Discover shows a maximum of around 30 Ancient Connections. If you’re viewing the free version of Discover, or you’ve only tested at the HVR1 or HVR1+HVR2 levels, you’ll see two of your closer and one of your most distant Ancient Connections. It’s easy to upgrade to the mtFull.

In Discover, the first group of Ancient Connections are genetically closest to you in time, and the last connections will be your most distant. Some connections may be quite rare and are noted as such.

Please keep in mind that oldest, in this case, Denisova 8 and Sima de los Huesos, will never roll off your list. However, as new studies are released and the results are added to the tree, you may well receive new, closer matches. New results are being added with each Discover update.

It’s very exciting to see your Ancient Connections, but I need to say three things, loudly.

  1. Do NOT jump to conclusions.
  2. These remains are probably NOT YOUR ANCESTORS, but definitely ARE your distant cousins.
  3. Ancient Connections ARE wonderful hints, especially when taken together with each other and additional information.

It’s VERY easy to misinterpret Ancient Connections because you’re excited. I’ve done exactly that. To keep the assumption monster from rearing its ugly head, I have to take a breath and ask myself a specific set of questions. I step through the logical analysis process that I’m sharing with you.

The first thing I always want to know is where the genetically closest set of remains was found, when, and what we know about them, so let’s start there. Keep in mind that the closest remains genetically may not be the most recent set of remains to have lived. For example, my own haplogroup will be the closest genetically, but that person may have lived 2000 years ago. An Ancient Connection in a more distant haplogroup may have lived only 1000 years ago. The closest person genetically is NOT the same as the person who lived the most recently.

Our tester, Radegonde’s descendant, has no Ancient Connections in haplogroup X2b4g or X2b4d’g, but does have two in haplogroup X2b4, so let’s start there.

Discover provides a substantial amount of information about each set of ancient remains. Click on the results you want to view, and the information appears below.

Radegonde’s first Ancient Connection is Carrowkeel 534. The graphic shows the tester, the Ancient Connection being viewed, and their shared ancestor’s haplogroup. In this case, the shared ancestor haplogroup of Carrowkeel 534 and the tester is X2b4, who lived about 5000 years ago.

It’s very easy to look at Carrowkeel 534, become smitten, and assume that this person was your ancestor.

By Shane Finan – Own work, CC BY-SA 4.0, https://commons.wikimedia.org/w/index.php?curid=35098411

It’s especially easy if you WANT that person to be your ancestor. Carrowkeel 534 was buried in a passage tomb in County Sligo, Ireland. I’ve been there.

However, don’t let your emotions get involved – at least not yet.

This is the first example of the steps that determine that these remains are NOT YOUR ANCESTOR.

  • Carrowkeel 534 was a male, and we all know that males do not pass on their mitochondrial DNA. Well, that’s an inconvenient fact.😊
  • There are two sets of X2b4 remains in Ancient Connections. Carrowkeel 534 remains are about 4600-5000 years old, and your common ancestor with them lived about 5000 years ago. However, Radegonde was French and migration from Ireland to France is not typical.
  • The other set of X2b4 remains, Ladoga 16, lived more recently, between the years of 900 and 1200 (or 800-1100 years ago), but they are found in Russia.
  • Radegonde’s parent haplogroup, X2b4d’g was born about 3700 years ago, which excludes the Russian remains from being Radegonde’s direct ancestor.
  • Radegonde’s common ancestor with both these sets of remains lived about 5000 years ago, but these remains were not found even close to each other.

In fact, these remains, if walking, are about 3299 km (2049 miles) apart, including two major water crossings.

  • Given that Radegonde is probably French, finding her ancestor around 5000 years ago in an Irish passage tomb in County Sligo, or in a location east of St. Petersburg, is extremely unlikely.

What IS likely, though, is that X2b4d’g descendants of your common ancestor with both sets of remains, 5000 years ago, went in multiple directions, meaning:

  • Radegonde’s ancestor found their way to France and along the way incurred the mutations that define X2b4d’g and X2b4g by the year 1600 when she lived, or about four hundred years ago.
  • Another X2b4 descendant found their way to what is today Ireland between 4600 and 5000 years ago
  • A third X2b4 descendant found their way to Russia between 800-1100 years ago, and 5000 years ago

If any question remains about the genesis of Radegonde’s ancestors being Native, Ancient Connections disproves it – BUT – there’s still an opportunity for misunderstanding, which we’ll see in a few minutes.

Ancient Connections Analysis Chart

I’ve created an analysis chart, so that I can explain the findings in a logical way.

Legend:

  • Hap = Haplogroup
  • M=male
  • F=female
  • U=unknown

Please note that ancient samples are often degraded and can be missing important mutations. In other words, the tree placement may be less specific for ancient samples. Every ancient sample is reviewed by FamilyTreeDNA’s genetic anthropologist before it’s placed on the tree.

Ancient samples use carbon dating to determine ages. Sometimes, the carbon date and the calculated haplogroup age are slightly “off.” The haplogroup age is a scientific calculation based on a genetic clock and is not based on either genealogy or ancient burials. The haplogroup age may change as the tree matures and more branches are discovered.

I’m dividing this chart into sections because I want to analyze the findings between groups.

The first entry is the earliest known ancestor of the current lineage – Radegonde Lambert, who was born about 1621, or roughly 400 years ago. I’ve translated all of the years into “years ago” to avoid any confusion.

If you wish to do the same, with CE (Current or Common Era) dates, subtract the date from 2000. 300 CE= (2000-300) or1700 years ago. With BCE dates, add 2000 to the BCE number. 1000 BCE= (1000+2000) or 3000 years ago.

Connection Identity Age Years Ago Location & Cultural Group Hap Hap Age Years Ago Shared Hap Shared Hap Age Years Ago
Radegonde Lambert (F) 400 France or Canada -Acadian X2b4g 1700 X2b4 5000
Carrowkeel 534 (M) 4600-5100 Sligo, Ireland – Neolithic Europe X2b4 5000 X2b4 5000
Ladoga 16 (M) 800-1100 Ladoga, Russia Fed – Viking Russia X2b4 5000 X2b4 5000
  • Age Years Ago – When the Ancient Connection lived
  • Hap Age Years Ago – When the haplogroup of the Ancient Connection (X2b4) originated, meaning was born
  • Shared Hap Age Years Ago – When the Shared Ancestor of everyone in the Shared Haplogroup originated (was born)

In this first section, the haplogroup of the Ancient Connections and the Shared Haplogroup is the same, but that won’t be the case in the following sections. Radegonde Lambert’s haplogroup is different than her shared haplogroup with the Ancient Connections.

Let’s assume we are starting from scratch with Radegonde.

The first question we wanted to answer is whether or not Radegonde is European, presumably French like the rest of the Acadians, or if she was Native. That’s easy and quick.

Native people crossed Beringia, arriving from Asia someplace between 12,000 and 25,000 years ago in multiple waves of migration that spread throughout both North and South America.

Therefore, given that the first two samples, Carrowkeel 534 and Ladoga 16, share haplogroup X2b4, an upstream haplogroup with Radegonde Lambert, and haplogroup X2b4 was formed around 5000 years ago, the answer is that Radegonde’s X2b4 ancestor, whoever that was, clearly lived in Europe, NOT the Americas.

According to Discover, Haplogroup X2b4:

  • Was formed about 5000 years ago
  • Has 16 descendant haplogroups
  • Has 29 unnamed lineages (haplotype clusters or individuals with no match)
  • Includes testers whose ancestors are from 23 countries

The Country Frequency map shows the distribution of X2b4, including all descendant haplogroups. Please note that the percentages given are for X2b4 as a percentage of ALL haplogroups found in each colored country. Don’t be misled by the relative physical size of the US and Canada as compared to Europe.

The table view shows the total number of self-identified locations of the ancestors of people in haplogroup X2b4 and all downstream haplogroups.

The Classic Tree that we looked at earlier provides a quick view of X2b4, each descendant haplogroup and haplotype cluster, and every country provided by the 331 X2b4 testers.

For the X2b4 Ancient Connections, we’ve already determined:

  • That Radegonde’s ancestors were not Native
  • Carrowkeel 534 is a male and cannot be Radegonde’s ancestor. It’s extremely likely that Carrowkeel 534’s mother is not Radegonda’s ancestor either, based on several factors, including location.
  • Based on dates of when Ladoga 16 lived, and because he’s a male, he cannot be the ancestor of Radegonde Lambert.

Radegonda’s haplogroup was formed long before Ladoga 16 lived. Each Ancient Connection has this comparative Time Tree if you scroll down below the text.

  • Both Carrowkeel and Ladoga share an ancestor with our tester, and Radegonde, about 5000 years ago.

Think about how many descendants the X2b4 ancestor probably had over the next hundreds to thousands of years.

  • We know one thing for sure, absolutely, positively – X2b4 testers and descendant haplogroups live in 32 countries. People migrate – and with them, their haplogroups.

What can we learn about the genealogy and history of Radegonde Lambert and her ancestors?

We find the same haplogroup in multiple populations or cultures, at different times and in multiple places. Country boundaries are political and fluid. What we are looking for are patterns, or sometimes, negative proof, which is often possible at the continental level.

X2b4, excluding downstream haplogroups, is found in the following locations:

  • Bulgaria
  • Canada (2)
  • Czech Republic
  • England (2)
  • Finland (2)
  • France (3)
  • Germany (4)
  • Portugal
  • Scotland (2)
  • Slovakia (2)
  • Sweden (2)
  • UK (2)
  • Unknown (11)
  • US (2)

Note that there are three people in France with haplogroup X2b4 but no more refined haplogroup.

Looking at X2b4’s downstream haplogroups with representation in France, we find:

  • X2b4a (none)
  • X2b4b (none)
  • X2b4b1 (1)
  • X2b4d’g (none)
  • X2b4d (none)
  • X2b4g (24) – many from Radegonde’s line
  • X2b4e and subgroups (none)
  • X2b4f (none)
  • X2b4j and subgroups (none)
  • X2b4k (none)
  • X2b4l (1)
  • X2b4m (none)
  • X2b4n and subgroups (none)
  • X2b4o (none)
  • X2b4p (none)
  • X2b4r (none)
  • X2b4+16311 (none)

I was hoping that there would be an Ancient Connection for X2b4, X2b4d’g, or X2b4g someplace in or even near France – because that makes logical sense if Radegonde is from France.

All I can say is “not yet,” but new ancient sites are being excavated and papers are being released all the time.

Ok, so moving back in time, let’s see what else we can determine from the next set of Ancient Connections. Haplogroup X2b1”64 was formed about 5050 years ago.

Connection Identity Age Years Ago Location & Cultural Group Hap Hap Age Years Ago Shared Hap Shared Hap Age Years Ago
Radegonde Lambert (F) 400 France or Canada X2b4g 1700
Carrowkeel 534 (M) 5100-4600 Sligo, Ireland – Neolithic Europe X2b4 5000 X2b4 5000
Ladoga 16 (M) 800-1100 Ladoga, Russia Fed – Viking Russia X2b4 5000 X2b4 5000
Parknabinnia 186 (M) 5516-5359 Clare, Ireland – Neolithic Europe X2b1”64 5516-5259 X2b1”64 Before 5050 years ago
Rössberga 2 (M) 5339-5025 Vastergotland, Sweden – Funnel Beaker X2b1”64 5516-5259 X2b1”64 Before 5050
Rössberga 29 (M) 5366-5100 Vastergotland, Sweden – Funnel Beaker and Early Plague X2b1”64 5516-5259 X2b1”64 Before 5050
Rössberga 38 (M) 5340-5022 Vastergotland, Sweden – Funnel Beaker X2b1”64 5516-5259 X2b1”64 Before 5050
Monte Sirai 797263 (U) 2600-2400 Monte Sirai, Italy (Sardinia) – Phoenicians X2b35a1 3350 X2b1”64 5050
Bogovej 361 (F) 1000-1100 Lengeland, Denmark – Viking Denmark X2b1”64 5516-5259 X2b1”64 5050
Ladoga 410 (M) 800-1000 Leningrad Oblast, Russia – Viking Russia X2b1”64 5516-5259 X2b1”64 5050

Our first group ended with haplogroup X2b4, and our second group consists of haplogroup X2b1”64, the parent haplogroup of X2b4. X2b1”64 is a significantly larger haplogroup with many downstream branches found throughout Europe, parts of western Asia, the Levant, India, and New Zealand (which probably reflects a colonial era settler). The Country Frequency Map and Table are found here.

X2b1”64 is just slightly older than X2b4, but it’s much more widespread, even though they were born about the same time. Keep in mind that haplogroup origination dates shift as the tree is developed.

  • These seven individuals who share X2b1”64 as their haplogroup could be related to each other individually, meaning their MRCA, anytime between when they lived and when their haplogroup was formed.
  • The entire group of individuals all share the same haplogroup, so they all descend from the one woman who formed X2b1”64 about 5050 years ago. She is the shared ancestor of everyone in the haplogroup.

One X2b4 and one X2b1”64 individual are found in the same archaeological site in Russia. Their common ancestor would have lived between the time they both lived, about 800 years ago, to about 5000 years ago. It’s also possible that one of the samples could be incomplete.

A second X2b1”64 Ancient Connection is found in the Court Tomb in County Clare, Ireland, not far from the Carrowkeel 534 X2b4 site.

However, Monte Sirai is fascinating, in part because it’s not found near any other site. Monte Sirai is found all the way across France, on an island in the Tyrrhenian Sea.

It may be located “across France” today, but we don’t know that the Phoenician Monte Sirai site is connected with the Irish sites. We can’t assume that the Irish individuals arrived as descendants of the Monte Sirai people, even though it would conveniently fit our narrative – crossing France. Of course, today’s path includes ferries, which didn’t exist then, so if that trip across France did happen, it could well have taken a completely different path. We simply don’t know and there are very few samples available.

Three Ancient Connections are found in the Rössberga site in Sweden and another in  Denmark.

Adding all of the Ancient sites so far onto the map, it looks like we have two clusters, one in the northern latitudes, including Denmark, Sweden, and Russia, and one in Ireland with passage burials, plus one single Connection in Monte Sirai.

If I were to approximate a central location between all three, that might be someplace in Germany or maybe further east. But remember, this is 5000 years ago and our number of samples, as compared to the population living at the time is EXTREMELY LIMITED.

Let’s move on to the next group of Ancient Connections, who have different haplogroups but are all a subset of haplogroup X2.

Identity Age Years Ago Location & Cultural Group Hap Hap Age Years Ago Shared Hap Shared Hap Age Years Ago
Radegonde Lambert (F) 400 France or Canada X2b4g 1700
Carrowkeel 534 (M) 5100-4600 Sligo, Ireland – Neolithic Europe X2b4 5000 X2b4 5000
Ladoga 16 (M) 800-1100 Ladoga, Russia Fed – Viking Russia X2b4 5000 X2b4 5000
Parknabinnia 186 (M) 5516-5359 Clare, Ireland – Neolithic Europe X2b1”64 5516-5259 X2b1”64 Before 5050
Ross Rössberga 2 (M) 5339-5025 Vastergotland, Sweden – Funnel Beaker X2b1”64 5516-5259 X2b1”64 Before 5050
Rössberga 29 (M) 5366-5100 Vastergotland, Sweden – Funnel Beaker and Early Plague X2b1”64 5516-5259 X2b1”64 Before 5050
Rössberga 38 (M) 5340-5022 Vastergotland, Sweden – Funnel Beaker X2b1”64 5516-5259 X2b1”64 Before 5050
Monte Sirai 797263 (U) 2600-2400 Monte Sirai, Italy (Sardinia) – Phoenicians X2b35a1 3350 X2b1”64 5050
Bogovej 361 (F) 1000-1100 Lengeland, Denmark – Viking Denmark X2b1”64 5516-5259 X2b1”64 5050
Ladoga 410 (M) 800-1000 Leningrad Oblast, Russia – Viking Russia X2b1”64 5516-5259 X2b1”64 5050
Barcin 31 (M) 8236-8417 Derekoy, Turkey – Neolithic Anatolia Ceramic X2m2’5’7^ 9200 X2b”aq 13,000
Abasar 55 (M) 500-800 Abasár Bolt-tető, Abasar, Hungary – Medieval Hungary X2m1e 5350 X2b”aq 13,000
Gerdrup 214 3779-3889 Gerdrup, Sealand, Denmark – Middle Bronze Age X2c1 3400 X2+225 13,000
Sweden Skara 275 800-1100 Varnhem, Skara, Sweden – Viking Sweden X2c1 3400 X2+225 13,000
Kopparsvik 225 950-1100 Gotland, Sweden – Viking Sweden X2z 5650 X2+225 13,000
Sandomierz 494 900-1100 Sandomierz, Poland – Viking Poland X2c2b 1650 X2+225 13,000
Kennewick man 8390-9250 Kennewick, Washington – Native American X2a2’3’4^ 10,450 X2 13,000
Roopkund 39 80-306 Roopkund Lake, Uttarakhand, India – Historical India X2d 13,000 X2 13,000

The next several Ancient Connections have haplogroups that are a subgroup of haplogroup X2. These people lived sometime between 500 years ago in Hungary, and 8390-9250 years ago when Kennewick Man lived in the present-day state of Washington in the US. Kennewick Man merits his own discussion, so let’s set him aside briefly while we discuss the others.

The important information to be gleaned here isn’t when these people lived, but when Radegonde shared a common ancestor with each of them. The shared haplogroup with all of these individuals was born about 13,000 years ago.

Looking at the map again, and omitting both X2 samples, we can see that the descendants of that shared ancestor 13,000 years ago are found more widely dispersed.

Including these additional burials on our map, it looks like we have a rather large Swedish and Viking cluster, where several of the older burials occurred prior to the Viking culture. We have a Southeastern Europe cluster, our two Irish tomb burials, and our remaining single Monte Sirai Phoenician burial on the island of Sardinia.

Stepping back one more haplogroup to X2, which was born about the same time, we add a burial in India, and Kennewick Man.

The Migration Map

The Migration map in Discover provides two different features.

  • The first is the literal migration map for the various ancestral haplogroups as they migrated out of Africa, if in fact yours did, culminating in your base haplogroup. In this case, the base haplogroup is X2, which is shown with the little red circle placed by FamilyTreeDNA. I’ve added the red squares, text and arrows for emphasis.
  • The second feature is the mapped Ancient Connections, shown with little brown trowels. Clicking on each one opens a popup box.

After haplogroup X2 was formed, it split into haplogroups X2a and X2b.

The X2a group, Kennewick Man’s ancestors, made their way eastward, across eastern Russia to Beringia where they crossed into the Americas.

They either crossed Beringia, follow the Pacific coastline, or both, eventually making their way inland, probably along the Hood River, to where Kennewick Man was found some 2,800 years later on the banks of the Kennewick River.

The X2b group made their way westward, across western Europe to a location, probably France, where Radegonde Lamberts’ ancestors lived, and where Radegonde set sail for Nova Scotia.

After being separated for nearly 13,000 years, the descendants of the single woman who founded haplogroup X2 and lived someplace in central Asia around 13,000 years ago would find themselves on opposite coasts of the same continent.

So, no, Radegonde Lambert was not Native American, but her 600th matrilineal cousin or so, Kennewick Man, absolutely was.

Radegonde Lambert and Kennewick Man

Here’s where confirmation bias can rear its ugly head. If you’re just scanning the Ancient Connections and see Kennewick Man, it would be easy to jump to conclusions, leap for joy, slap a stamp of “confirmed Native American” on Radegonde Lambert, and never look further. And if one were to do that, they would be wrong.

Let’s work through our evaluation process using Discover.

Radegonde Lambert and Kinnewick Man, an early Native American man whose remains were found Kennewick, Washington in 1996, are both members of the broader haplogroup X2. Kennewick Man lived between 8290 and 9350 years ago, and their shared ancestor lived about 13,000 years ago – in Asia, where mitochondrial haplogroup X2 originated. This is the perfect example of one descendant line of a haplogroup, X2 in this case, going in one direction and a second one traveling in the opposite direction.

Two small groups of people were probably pursuing better hunting grounds, but I can’t help but think of a tundra version of the Hatfields and McCoys and cousin spats.

“I’m going this way. There are better fish on that side of the lake, and I won’t have to put up with you.”

“Fine, I’m going that way. There are more bears and better hunting up there anyway.”

Their wives, who are sisters, “Wait, when will I ever see my sister again?”

One went east and one went west.

X2a became Native American and X2b became European.

Looking back at our information about Kennewick Man, his haplogroup was born significantly before he lived.

He was born about 8390-9250 years ago, so let’s say 8820 years ago, and his haplogroup was born 10,500 years ago, so about 1680 years before he lived. That means there were many generations of women who carried that haplogroup before Kennewick Man.

Let’s Compare

Discover has a compare feature.

I want to Compare Radegonde Lambert’s haplogroup with Kennewick Man’s haplogroup X2a2’3’4^.

The Compare tool uses the haplogroup you are viewing, and you enter a second haplogroup to compare with the first.

The ancestral path to the shared ancestor, meaning their shared haplogroup, is given for each haplogroup entered. That’s X2 in this case. Then, from the shared haplogroup back in time to Mitochondrial Eve.

I prefer to view this information in table format, so I created a chart and rounded the haplogroup ages above X2.

Hap Age – Years Ago Radegonde’s Line Shared Ancestors and Haplogroups Kennewick’s Line Hap Age – Years Ago
143,000 mt-Eve
130,000 L1”7
119,000 L2”7
99,000 L2’3’4’6
92,000 L3’4’6
73,500 L3’4
61,000 L3
53,000 N
53,000 N+8701
25,000 X
22,500 X1’2’3’7’8
13,000 X2 – Asia
13,000 X2+225 X2a 10,500
12,900 X2b”aq X2a2’3’4^ 10,400 Kennewick Man born c 8800 years ago
11,000 X2b
5,500 X2b1”64
5,000 X2b4
1,900 X2b4d’g
Radegonde Lambert born c 1661 – 400 years ago 1,700 X2b4g

More Ancient Connections

Radegonde Lambert’s matrilineal descendants have an additional dozen Ancient Connections that are found in upstream haplogroup N-8701. Their shared ancestors with Radegonde reach back to 53,000 years ago in a world far different than the one we inhabit today. I’m not going to list or discuss them, except for one.

Identity Age Years Ago Location & Cultural Group Hap Hap Age Years Ago Shared Hap Shared Hap Age Years Ago
Radegonde Lambert (F) 400 France or Canada X2b4g 1700
Carrowkeel 534 (M) 5100-4600 Sligo, Ireland – Neolithic Europe X2b4 5000 X2b4 5000
Ladoga 16 (M) 800-1100 Ladoga, Russia Fed – Viking Russia X2b4 5000 X2b4 5000
Parknabinnia 186 (M) 5516-5359 Clare, Ireland – Neolithic Europe X2b1”64 5516-5259 X2b1”64 Before 5050
Rössberga 2 (M) 5339-5025 Vastergotland, Sweden – Funnel Beaker X2b1”64 5516-5259 X2b1”64 Before 5050
Rössberga 29 (M) 5366-5100 Vastergotland, Sweden – Funnel Beaker and Early Plague X2b1”64 5516-5259 X2b1”64 Before 5050
Rössberga 38 (M) 5340-5022 Vastergotland, Sweden – Funnel Beaker X2b1”64 5516-5259 X2b1”64 Before 5050
Monte Sirai 797263 (U) 2600-2400 Monte Sirai, Italy (Sardinia) – Phoenicians X2b35a1 3350 X2b1”64 5050
Bogovej 361 (F) 1000-1100 Lengeland, Denmark – Viking Denmark X2b1”64 5516-5259 X2b1”64 5050
Ladoga 410 (M) 800-1000 Leningrad Oblast, Russia – Viking Russia X2b1”64 5516-5259 X2b1”64 5050
Barcin 31 (M) 8236-8417 Derekoy, Turkey – Neolithic Anatolia Ceramic X2m2’5’7^ 9200 X2b”aq 13,000
Abasar 55 (M) 500-800 Abasár Bolt-tető, Abasar, Hungary – Medieval Hungary X2m1e 5350 X2b”aq 13,000
Gerdrup 214 3779-3889 Gerdrup, Sealand, Denmark – Middle Bronze Age X2c1 3400 X2+225 13,000
Kopparsvik 225 950-1100 Gotland, Sweden – Viking Sweden X2z 5650 X2+225 13,000
Sandomierz 494 900-1100 Sandomierz, Poland – Viking Poland X2c2b 1650 X2+225 13,000
Sweden Skara 275 800-1100 Varnhem, Skara, Sweden – Viking Sweden X2c1 3400 X2+225 13,000
Kennewick man 8390-9250 Kennewick, Washington – Native American X2a2’3’4^ 10,450 X2 13,000
Roopkund 39 80-306 Roopkund Lake, Uttarakhand, India – Historical India X2d 13,000 X2 13,000
Ranis 10 43,500-47,000 Ranis, Germany – LRJ Hunger Gatherer N3’10 53,000 N+8701 53,000
Zlatý kůň woman 47,000 Czech Republic – N+8701 53,000 N+8701 53,000

Zlatý kůň Woman

Zlatý kůň Woman lived some 43,000 years ago and her remains were discovered in the Czech Republic in 1950.

Believed to be the first anatomically modern human to be genetically sequenced, she carried about 3% Neanderthal DNA. Europeans, Asians and indigenous Americans carry Neanderthal DNA as well.

Unlike many early remains, Zlatý kůň Woman’s facial bones have been scanned and her face approximately reconstructed.

There’s something magical about viewing a likeness of a human that lived more than 40,000 years ago, and to whom I’m at least peripherally related.

Like all other Ancient Connections, it’s unlikely that I descend from Zlatý kůň Woman herself, but she is assuredly my very distant cousin.

What else do we know about Zlatý kůň Woman? Quoting from her Ancient Connection:

She lived during one of the coldest periods of the last ice age, surviving in harsh tundra conditions as part of a small hunter-gatherer group. She died as a young adult, though the cause of death remains unknown.

Her brain cavity was larger than that of modern humans in the comparative database, another trait showing Neanderthal affinity. While the exact colors of her features cannot be determined from available evidence, researchers created both a scientific grayscale model and a speculative version showing her with dark curly hair and brown eyes.

Zlatý kůň Woman may or may not have direct descendants today, but her haplogroup ancestors certainly do, and Radegonde Lambert is one of them, which means Radegonde’s matrilineal ancestors and descendants are too.

Ancient Connections for Genealogy

While Ancient Connections are fun, they are more than just amusing.

You are related through your direct matrilineal (mitochondrial) line to every one of your mtDNA Discover Ancient Connections. Everyone, males and females, can take a mitochondrial DNA test.

I find people to test for the mitochondrial DNA of each of my ancestral lines – like Radegonde Lambert, for example. I wrote about various methodologies to find your lineages, or people to test for them, in the article, Lineages Versus Ancestors – How to Find and Leverage Yours.

Radegonde’s mitochondrial DNA is the only key I have into her past, both recent and distant. It’s the only prayer I have of breaking through that brick wall, now or in the future.

Interpreted correctly, and with some luck, the closer Ancient Connections can provide genealogical insight into the origins of our ancestors. Not just one ancestor, but their entire lineage. While we will never know their names, we can learn about their cultural origins – whether they were Vikings, Phoenicians or perhaps early Irish buried in Passage Graves.

On a different line, an Ancient Connection burial with an exact haplogroup match was discovered beside the Roman road outside the European town where my ancestral line was believed to have been born.

Ancient Connections are one small glimpse into the pre-history of our genetic line. There are many pieces that are missing and will, in time, be filled in by ancient remains, Notable Connections, and present-day testers.

Check your matches and your Ancient Connections often. You never know when that magic piece of information you desperately need will appear.

What is waiting for you?

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Mitochondrial DNA: What is a Haplotype Cluster and How Do I Find and Use Mine?

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A new feature called Haplotype Clusters was released with the new Mitotree and mtDNA Discover.

MtDNA Discover includes a dozen new reports for EVERY haplogroup. You can use the public version of Discover with any haplogroup.

However, there are additional included features for mtFull testers, and other information provided will be much more detailed and robust because the mtFull test is much more specific than any partial haplogroup.

If you have only taken the older partial-coverage HVR1 or HVR1/HVR2 tests at FamilyTreeDNA, you can sign in and upgrade, or if you have received a partial haplogroup from another source, you can take the mtFull test at FamilyTreeDNA.

OK, I’ve Taken the mtFull Test, So How Do I Access My Discover Reports?

Sign in to your FamilyTreeDNA account, then from your mtDNA dashboard, click through to Discover to access your Discover reports.

Discover reports are in addition to the tools in the mtDNA Results and Tools section of your dashboard on FamilyTreeDNA.

Definitions

Let’s start with some basic definitions.

  • Haplotype – Your individual DNA results at specific adjacent locations that are generally inherited together.

Other people may have the same haplotype as you. If they have mutations that you don’t have, or vice versa, then you have different haplotypes. People with the same haplotypes match exactly on whatever type of DNA is being discussed, such as Y-DNA or mitochondrial DNA, with no mutations or differences. Multiple people who match exactly are considered a Haplotype Cluster.

  • Haplogroup – A group of specific mutations that identify people who share a common genetic clan. Haplogroups, based on a series of mutations, can be traced forward and backward in time.

A haplogroup is a grouping of haplotypes with the same foundation mutations. You will share those mutations with other people in your haplogroup, but you may have other, different mutations that form your haplotype.

  • Other people will have the same haplogroup as you, because a group implies two or more.
  • You may or may not share a haplotype with other people. If you share the exact same haplotype with at least one other person, the two (or more) of you form a Haplotype Cluster

What is a Haplotype Cluster?

Haplotype Clusters are new and have been added to provide additional granularity to the new Mitotree, making results more genealogically useful.

In addition to your mitochondrial DNA haplogroup, you may also have a Haplotype Cluster if you took a full sequence mitochondrial DNA test, called the mtFull.

A mitochondrial DNA haplogroup, such as J1c2f for example, means that everyone within that haplogroup has the same foundation grouping of mutations. You may have additional mutations, or even some missing mutations, based on the older Phylotree Build 17, which was last updated in 2016.

Click to enlarge any image

To see your Extra and Missing Mutations in the Classic, or Phylotree build, on the FamilyTreeDNA mtDNA dashboard, click on “See More,” then on Mutations.

In the recently released Mitotree, which reconstructs the tree of humanity with more than 35,000 new branches, or haplogroups, many of those “extra” or “missing” mutations have been used in the definition of new haplogroups.

At FamilyTreeDNA, on your matches page, you’ll see your matches, like always. Matching has not changed.

You’ll notice that some are exact matches, and some may be “1 step” or more distant. That means they have one qualifying genetic mutation difference from you.

Some mutations have always been excluded from matching because they are unreliable. In my case, location 315.1C is one of those. You can read more about matching here. Matching has NOT been rerun with the release of the new Mitotree, but may be in the future.

The new Haplotype Clusters designate other people who you literally match exactly, with no differences – and no excluded marker locations.

So, let’s compare how I match people and what it means:

  • Haplogroup match – I match these people at the haplogroup level, which can reach back hundreds or even thousands of years ago. In addition, I may match them on both other relevant, reliable mutations, and/or unreliable mutations. On the current matching page, the mtDNA Haplogroup is the PhyloTree Build 17 haplogroup. Before Mitotree, matches to any other haplogroup were not displayed. Now, new haplogroups of my J1c2f matches, if they received a new haplogroup, are shown in the Mitotree Haplogroup column. My common ancestor with a match can have occurred anytime between when the haplogroup was formed and today.

Some people receive partial haplogroup level matches from other testing companies that also don’t include matching. A haplogroup match alone isn’t particularly useful except when it can eliminate a connection.

That’s why we need matching on the Matches page.

  • FamilyTreeDNA Matches Page Match – On the Matches page, I match these people at the haplogroup level as calculated based on Phylotree Build 17, as shown in the mtDNA Haplogroup Column at the Genetic Distance displayed. This means that I match them on the haplogroup markers PLUS possibly other markers.

My first match with Per, above, is listed as an exact match. Before Haplotype Clusters were introduced, I had no way of knowing if I matched him on all of my mutation locations, or just the ones that are NOT excluded from matching. But now I do.

My Haplotype Cluster number is F1752176. I know this because the little circle is checked and blue – meaning this person and I share both a haplogroup in the new Mitotree, and a Haplotype Cluster.

Ronald, above, is a match with a “1 step” Genetic Difference. I know for sure that I match him on the haplogroup markers. I also know that we don’t match on one non-excluded marker – but I have no idea which one. We may also match, or not, on some of the excluded markers. But we are not members of the same Haplotype Cluster. The blue circle is not checked.

You cannot be a member of more than one Haplotype Cluster, because everyone in a Haplotype Cluster must match exactly.

  • Haplotype Cluster – A Haplotype Cluster, if you have one, is a random F number assigned to people whose mitochondrial DNA matches exactly – and by exactly, I mean without excluding unstable or unreliable mutations.

You can see my Haplotype Cluster number, above, in the Mitotree Haplogroup column, in addition to my new Mitotree haplogroup – which is still J1c2f and did not change from the earlier version. In Mitotree, some people will receive new haplogroups, and some will not – based on your and other people’s mutations.

My match with Ronald is one step difference. Our haplogroup is the same, so that circle is checked, but Ronald belongs to a different Haplotype Cluster, so that circle is not checked, and he has a different F number. I can’t see his mutations that are different from mine, but I know he matches everyone else in his Haplotype Cluster exactly.

Let’s look at another example.

Click on any image to enlarge

Looking at my match list, I can see that beneath my matches’ haplogroup, which is the same as mine, F1752176 is checked and the checked circle is blue, which means that I share that Haplotype Cluster with those people. Everyone in that cluster has all of the same mutations in addition to the haplogroup-defining mutations, which is why both the haplogroup and haplotype circles are checked. I match both.

If I look at my Matches page, or the mtDNA Discover Time Tree, or Matches Time Tree, I can see that I have many exact haplotype matches, which means:

  • We all share haplogroup-defining mutations and
  • We match exactly on all other mutations as well

Before Haplotype Clusters were introduced, I had no way of knowing which of these people I matched exactly if no mutations were excluded.

To summarize, a Haplotype Cluster is a group of people who all match each other exactly within a haplogroup. People in Haplotype Clusters always match exactly, which INCLUDES mutations that are EXCLUDED from haplogroup formation and matching.

If you don’t match someone exactly, you’re not in the same Haplotype Cluster. You can either be in a different cluster, or no cluster at all if no one matches you exactly.

Everyone has a Haplotyupe Cluster number, but you will only be a member of a Haplotype Cluster if you have an exact match to at least one other person.

Don’t Ignore Other Clusters

The F number itself isn’t important. What is important is that Haplotype Clusters serve to focus your genealogy on that cluster first. However, understand that because the Haplotype Cluster does include unreliable or fast-mutating markers, it’s possible for you to share a more recent ancestor with people in a different cluster. It depends on the marker and the mutation, so don’t discount that possibility.

Who Can See Haplotype Cluster Mutations?

The only people who know the exact mutations of the people in a specific Haplotype Cluster are the members of that cluster – because they all match exactly.

If you scroll down your match list, you’ll notice that people, like Anastasia, who have a genetic distance of 1 step or greater have a different F Haplotype Cluster number, which is expected.

You may also notice that someone who is an “exact match” with you on the match list is assigned to a different Haplotype Cluster, such as Rose and Per. Rose is not in my Haplotype Cluster, but Per is, even though they are both “exact matches.”

Remember, “matching exactly” on the match list excludes unreliable mutation locations. Haplotype Clusters always match exactly and include all mutations. So, this tells me that I match Per on all mutation locations, regardless of their stability, and I match Rose on all stable locations, and we mismatch on at least one location that was excluded from matching.

However, the only people who know the exactly mutations of any other person are me and Per, because we both share a Haplotype Cluster. People in other clusters, or without a cluster, don’t know and can’t identify the mutations in clusters not their own.

  • The only thing I can tell about my match with Rose is that we don’t share one of the unreliable markers, because we are an “exact match” on the match list which excludes unstable markers. I have no idea whether I carry that unstable marker, or she does, or which marker it is.
  • The only thing I can tell about my match with Anastasia is that we don’t share at least one stable marker, because we are a “1-step” genetic distance, and we could also not share some of the unstable markers. I have no way of identifying those markers.
  • I know that I match Per exactly on all markers, including unstable or unreliable markers.

Included Versus Excluded Markers

Sometimes people who are listed as exact matches on your Matches page are assigned to different Haplotype Clusters. This is because mutations such as 309 and several others are included in Haplotype Clusters, but excluded from matching and haplogroup formation. The reason they are excluded is because they are sometimes unreliable – but they may be useful to your research. They aren’t always unreliable, but it varies on a case-by-case basis, including when the mutation occurred.

Location Haplogroup Formation Matching on Matches Page Haplotype Cluster
309 Excluded Excluded Included

Here’s an example using location 309. While some locations are excluded from matching, their inclusion in the formation of Haplotype Clusters may be very genealogically relevant to you – or perhaps not. That’s where genealogy research becomes important.

Haplotype Clusters give you the ability to focus your research on a specific group of people that you know do, in fact, match you exactly. Just keep in mind that some people in a different Haplotype Cluster, that don’t have a mutation at 309, for example, could have a closer common ancestor. That’s the nature of 309, 315 and other unstable SNPs, especially heteroplasmies, which tend to “come and go,” which I wrote about here. In other words, don’t ignore other Haplotype Clusters that appear on your match list – just begin with your own and evaluate using genealogy..

The Haplotype Cluster number itself isn’t important. What is important is that they serve to focus your genealogy efforts.

Where Else Can I Find My Haplotype Cluster

You can identify your Haplotype Cluster number by looking at your match list, as we have discussed, or by navigating to the Variants tab on the Scientific Details page.

On the variants tab, your haplogroup is marked with the solid red square, along with other information which I have truncated here.

Immediately above your haplogroup, you’ll see your Haplotype Cluster number, if you have one, along with any remaining private variants, aka mutations, that are haplogroup seeds and qualify to potentially become part of a haplogroup in the future.

In my case, this tells me that either all of my mutations are now included in a haplogroup definition, or they are excluded due to their instability or unreliability. Everyone else in this Haplotype Cluster is in exactly the same situation.

The only person who can see your Haplotype Cluster in Discover is you, if you are signed in to FamilyTreeDNA and you toggle “Show Private Variants” to “on.”

Haplotype Clusters as a Subset of Haplogroups

Haplogroups can and do have mutations “beneath” them, meaning haplogroup members may have different mutations or variants, in addition to the mutations used to form the haplogroup. Think of them as twigs or leaves on the tree.

Using the Classic Mitotree view in mtDNA Discover, you’ll notice that haplogroup J1c2f contains six Haplotype Clusters.

Please note that one of these clusters could be people who match the haplogroup definition exactly, and have no additional mutations of any type. They would form their own cluster.

Additionally, above the clusters, there are individual branches listed that don’t (yet) form clusters. You don’t know from looking at the individuals listed by country, such as Sweden, Germany, Norway, and so forth, if these people have only the exact mutations in haplogroup J1c2f, or if they have additional mutations that are unique and no one else has those exact mutations. What you do know is that so far, no one else matches them exactly, but as other people test, they may develop into a HaploType Cluster.

You may not match all of the people in your haplogroup on your matches page, because they may be over the match threshold and have too many mutations difference from you.

Some testers with unique, stable mutations may form new haplogroups as additional people test.

Using the Time Tree, you can see that there are currently 33 people who are in haplogroup J1c2f but do not match anyone else exactly.

The Discover Time Tree

Now that we’ve looked at examples individually, I took a screenshot of my entire haplogroup on the mtDNA Discover Time Tree to get the big picture.

The Time Tree offers a nice visual summary of all of J1c2f, including my full sequence matches, all in one place, along with Haplotype Clusters.

My haplogroup is shown in the black circle, and downstream haplogroups are shown in red circles.

You can see my Haplotype Cluster, which I can identify by the F#. You can see other Haplotype Clusters within my haplogroup, along with some individuals who don’t have any exact matches, who are shown alone on their line.

The Match Time Tree

When you click on Discover Haplogroup Reports from your dashboard, then on the Match Time Tree, you’ll see your matches’ names on your personal Time Tree, along with their self-reported earliest known matrilineal ancestors, in addition to their ancestor’s country of origin.

Here’s an example of a portion of my Match Time Tree with my matches’ names redacted.

With these new Discover and Mitotree tools, you know where to focus your research most closely. Which matches’ trees to view or build out to identify common ancestors, and who to prioritize for communications.

If you have a new haplogroup – that’s wonderful, but you don’t need one to make headway. The clue you need may well be found in your Haplotype Cluster.

There’s so much new information available for you. What can you discover?

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RootsTech 2025 – The Year of Discover and the New Mitotree

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Last week, RootsTech was a whirlwind and full of discoveries – which, ironically, was the 2025 theme.

I always take you along with me and share the RootsTech experience, start to finish, so here’s my 2025 “feet on the ground” report.

I might, just might, have overcommitted myself. I taught the half-day DNA Academy,  three more sessions, plus several other commitments such as book signings, get-togethers, and interviews.

One class, “DNA for Native American Genealogy,” was a live webinar from the floor of the expo hall. You can watch that here for free, if you’re interested.

Unfortunately, none of my other sessions were recorded, but I’ll see what other alternative options may be available to bring those to you.

Additionally, I did two book signings at the GenealogyBank booth, along with two other authors, Drew Smith and Sunny Morton. I’m sorry, I don’t have any pictures. I should have asked someone to take some.

There were long lines and books sold out. Still, you can order either of my books, The Complete Guide to FamilyTreeDNA – Y-DNA, Mitochondrial, Autosomal and X-DNA or DNA for Native American Genealogy, at Genealogical.com. Thank you to GenealogyBank for being so welcoming.

The book signing was particularly fun because people shared their success stories or their hopes of what they want to achieve. I met a couple of new cousins too! Even people waiting in line were helping each other with information about research resources.

I had created my “RootsTech plan” for sessions I wanted to attend, but I was only able to actually attend one of those. Several were happening at the same time as mine, or directly before or after. As a presenter, you arrive early to get set up and make sure everything is working correctly.

Then, after your session, attendees have questions and are interested in your topic, which is a good thing. So essentially, you can’t attend sessions either before or after your session either.

Before I share photos, I’d like to share something else.

It’s About the People

I have never attended RootsTech for the classes, although there are wonderful offerings – and I have enjoyed them immensely.

Having said that, for me, the best part of RootsTech is the people. People I know and love but never get to see – many of whom I met in-person at RootsTech initially. I get to meet my blog followers. I meet with or reconnect with friends and cousins from around the world. I am privileged to talk with people about their challenges and their victories – when they’ve broken through a brick wall using DNA that they could never have otherwise achieved. People collaborating and helping each other. It’s all beautiful.

The reason I started blogging in the first place, and the reason all 1750 articles are free, is because I wanted to help people do just that – confirm ancestors, find ancestors, and connect with their fsmily.

My cousins that I’ve met through genealogy are some of my closest friends and closest family members. Outliving everyone is a mixed blessing but it makes me extremely grateful for my various cousins since all of my siblings and close family, with the exception of the next generation, have transitioned to the land of the ancestors.

So, yea, for me, RootsTech is about connecting and reconnecting with the people.

That’s also why I never get anything done because I’m always talking with someone.

Additionally, this particular RootsTech was a celebration.

Mitotree Release

Just a few days before RootsTech, the Million Mito Team at FamilyTreeDNA released the brand new Mitotree, 5 years in the making, reconstructing the tree of humankind to reflect our combined heritage more accurately.

At RootsTech 2020, I was honored to announce the Million Mito Project, and the new Mitotree initiative was born.

At some point, I will write about the deep, personal significance of the Mitotree for me,  but for now, suffice it to say that there is something profoundly moving about rewriting the tree of humankind and in doing so, giving a voice to our ancestors from long ago. Yes, I know many of them are thousands or even tens of thousands of years old, but had they not survived, we would not be here today. Now we can identify who they are and that they lived.

Million Mito Team, left to right, Goran Runfeldt, Dr. Paul Maier, me, Dr. Miguel Vilar, Bennett Greenspan, John Detsikas

Our amazing Dream Team has given life to our ancestors and said their names once again, even if their name is a mitochondrial DNA haplogroup. Four team members, Goran, Paul, me and Bennett were at RootsTech. Where else can you actually approach and speak with the actual scientists?

When I say RootsTech is about the people, I know that I am related to every single individual at RootsTech, it’s just a matter of how far back in time. So are you.

Just think about the significance of that for a minute.

Every. Single. Person.

The other end of the mitochondrial DNA spectrum is genealogy, of course, and the new Mitotree with it’s haplotype clusters brings mitochondrial DNA results into the genealogical timeframe. In future articles, I’ll be writing about each one of the new tools, what they mean, and how to use them.

Dr. Paul Maier, lead scientist doing most of the hard science behind Mitotree, had the much-deserved honor of introducing the Mitotree to genealogists at RootsTech.

I’m not sure the audience understood they were witnessing history unfold, but they clearly were. We needed a drum roll and some balloons!

This wasn’t like most vendor announcements of a new product or feature – this was a major scientific achievement that led to genealogical benefits.

In celebration, I asked my friend to make double helix zipper pulls so that I could give them to colleagues, friends and cousins that I ran into at RootsTech. It’s my way of celebrating and sharing the joy!

Five years is a very long time to work on a project. The Mitotree is a massive accomplishment. Every customer at FamilyTreeDNA who has taken the full sequence test received their new haplogroup either the week before or during RootsTech, AND, the second updated version of the tree was released too.

While this is truly wonderful, the true highlight is the testimonials – seeing how Mitotree is actually helping people break through their brick walls.

Here’s just one.

Breathless Testimonial

I’m going to try to convey this exactly as it happened.

A lady that I don’t know literally runs up to me in the hallway. This isn’t unusual. She was so excited that what she said was one long breathless sentence, which I’m going to try to reconstruct here, although I’m adding a bit of punctuation. I also can’t remember how many “greats” were attached to the “grandmother,” but you’ll get the idea.

Roberta, Roberta, I’m so excited – I just wanted to let you know – I found my ancestor using mitochondrial DNA. I got my new haplogroup and I had like 47 matches before but now they are clustered together so I could focus…and there were three matches in my cluster…and one of them had an EKA but the other didn’t…so I built out the EKA matches’ tree and guess what??? They were from the same place and then I found that her great-great-grandmother’s sister is my great-great-grandmother but she had her surname so now I have more generations too. OMG I ‘m so excited I could never have broken through this wall without mtDNA because I had no surname. This is THE MOST CONSEQUENTIAL DNA TEST I’VE EVER TAKEN, and I’ve taken them all. Thank you, thank you!

And with that she quickly hugged me and ran off to something she was obviously late for.

I never got to say one word, which was fine, but I stood there with tears in my eyes, thinking to myself, “This – this is what it’s all about.”

It doesn’t get better than this!

I want to hear your stories too. I just scaled my fourth brick wall last night using the new Mitotree and mtDNA Discover features.

RootsTech Week

RootsTech week started early for me – as in leaving the house at 3 AM Sunday. I fly on Sunday because the flights are cheaper and because the pre-conference meetings and events begin on Monday.

We took off into the dawn, jetting our way westward through the azure blue sky.

I have never gotten over the majesty and beauty of the Rocky Mountains.

And then, of course, the Great Salt Lake, for which Salt Lake City is named.

Looking at the Salt Palace across the street from the Marriott hotel. The silver building is the new Hyatt which is attached to the conference center behind the windmills which extends another very long block to the right, out of view. The mountain range is visible in the distance, and the beautiful sunset.

Speaking of the Marriott hotel, several people have asked if it was any better this year, and if I got trapped in the fire exit again, like last year.

No, I didn’t get stuck because I didn’t tempt fate again. It looked just the same though, so I’m presuming nothing has changed. Furthermore, there was no heat in my room, so they gave me a space heater and a pass to the concierge level – which they did not do last year.

That was kind of them, but food ran out, and there was only one poor server in the restaurant. I’m not even going to mention the nauseating thing that happened with my food. Let’s just say I’m not picky, but I will NEVER eat there again, and that makes it particularly difficult because there’s very little close by, especially when you’re exhausted.

I’m hoping that RootsTech will negotiate someplace different for speakers in the future. I’ve stayed in a lot of Marriotts and most of them are just fine. I have never had issues like this with any of them, let alone repeat issues year after year.

The good news is that we’re not there for the hotel, and the fun began on Monday.

Monday

My interviews began on Monday morning with “Mondays with Myrt” at the FamilySearch Library, which you can view here beginning about 16 minutes.

Mondays with Myrt is a RootsTech tradition and Myrt incorporates people present in person and tuning in virtually as well. Left to right, Kirsty Gray from England, John Tracy Cunningham, me and Myrt. Kirsty had a huge breakthrough that she shared with us just a few minutes after it happened.

I met John at the ECGGS Conference last October. He’s one of the few people I know whose 8 great-grandparents were born in the same county. I’m so jealous. Mine were either born in or first generation immigrants from four countries.

Sometimes the broadcast waiting area is just as much fun as the actual broadcast – in part because it’s the first day of RootsTech week and everyone is so excited to see their friends that they haven’t seen in forever. Call is a reunion!

Do Kirsty Gray and I look like we’re about to get into mischief?

Behind me is the first group of folks to be interviewed.

Pat Richley-Erickson, aka Myrt, Cheryl Hudson Passey, Laura Wilkinson Hedgecock, and Jenny Horner Hawran.

This is the livestream room at the FamilySearch Library. The waiting area for the next group is to the right, and the three presently being interviewed are sitting on the left beside Myrt.

For those who know Gordon, aka Mr. Myrt, he’s coordinating interviewees outside the livestream room. His job is herding cats and he’s the nicest cat-herder you’ll ever meet!

Pre-RootsTech Library Research

I love the FamilySearch Library. It feels like coming home to me.

So many passionate genealogists at every level – learning and searching. Lots of volunteer helpers available, too.

Normally, I create a research plan for the library, but I had been so utterly slammed between preparing my several RootsTech sessions and the Mitotree release that I hadn’t really been able to prepare anything.

I did, however, have a group of ancestors in mind that settled in the Oley Valley in Pennsylvania, so I decided to focus on the Berks County books.

I won’t bore you with the details, but among other things, I found confirmation that the Hoch surname is also the same as High and Hoy, which explains some very confusing Y-DNA results. So even though I didn’t get much productive time there, I did find something very useful in the land records.

I also ran into cousins and friends, of course, which is why I didn’t get more actual research done.

I knew Judy Nimer Muhn, at left, was going to be at RootsTech as a speaker, and I knew we connected through Acadian lines, but we never took the time to really piece together that puzzle.

My cousins, Mark and Manny were also coming for RootsTech, and to visit the library, for the first time. Mark, Manny and I visited Nova Scotia together in the summer of 2024, chasing our ancestors.

You know, fate is a funny thing.

We all descend from Acadian, Francois Savoie who was born about 1621 in France, but settled in Acadia, today’s Nova Scotia. Mark, Manny and I knew that we are cousins through Francois, but Judy and I did not. Mark, Manny and I ran into a local historian, Charlie Thibodeau, the Acadian Peasant, last year, outside of Port Royal. It just so happened that he was taking another couple to see the remains of the Savoie homestead deep in the salt marshes at BelleIsle.

We asked if we could join them, and Charlie was kind enough to include us. It was a long, brutally hot, tick-infested hike through the swamp, but oh so worth it!

We also found the well, located between three homesteads.

The year before, Judy had been in the same place in Nova Scotia, found the same man, Charlie, at the BelleIsle Hall Acadian Cultural Centre, and he had taken her to the remains of the same homestead.

And here we all four are in Utah.

What are the chances?

Needless to say, we had a LOT to talk about, and still do. Unfortunately, I wasn’t able to get to Judy’s talk, but Mark and Manny attended.

I ran into Katy Rowe-Schurwanz, the FamilyTreeDNA Product Manager at the library too, and look what she’s wearing – a mitochondrial DNA scarf. How cool is that!

The rest of Tuesday and most of Wednesday morning were spent trying to update my several presentations to reflect newly released information by various vendors and practicing the timing of the presentations. I had another interview, and more people were arriving.

I found time to visit Eva’s Bakery about 3 blocks from the Salt Palace. If you’re ever in Salt Lake City, Eva’s is a must! Lunch is wonderful, and so are their French pastries.

Wednesday is “tech prep” day at RootsTech, along with speaker instructions and then the Speaker Dinner.

Steve Rockwood, President and CEO of FamilySearch always delivers an inspirational message and this year did not disappoint.

If you’ve wondered about RootsTech conference stats, they provided this information. I can’t even imagine trying to coordinate all of this – and that’s not including the vendors, expo hall, technology in the presentation rooms, food, security and so much more.

Last year, in 2024, the final attendance numbers were more than 16,000 people in person and 4 million virtual attendees. I noticed a few days ago that there were more than half a million people participating in Relatives at RootsTech, which is still live until April 12th.

On Wednesday evening, after the Speaker’s Dinner, vendors in the Expo Hall were putting the final touches on their booths and preparing for the thousands of excited genealogists who would descend Thursday morning.

Discover

This year’s RootsTech theme was “discover” and attendees were greeted with this display just inside the door.

Attendees listed their discoveries on Post-its and could either post them on the board or plastic boxes, or on the green tree.

I placed my discovery from the day before at the library on the Rootstech tree.

Some people place their wishes here, kind of like a technology wishing well.

I couldn’t help but think of the new Mitotree, now forever green and growing, so I posted a second discovery, “Mitotree.”

Thursday – Opening Day

For those who don’t know, the Salt Palace Convention Center is two lengthy blocks long, a block wide, and two or three stories high, depending on whether you are in the front or rear portion. In other words, it’s massive and you need a map!

The huge Expo Hall with vendors is located in the center on the first floor and vendors have aisle addresses. The show floor is always very busy, and this year was no exception. One of the things I love is that spontaneous conversations just spring up between people who often find commonalities – common ancestors, common locations, and more. People compliment each other and join others at tables. It’s like a big family gathering of sorts.

I always try to walk the entire Expo Hall, because I really enjoy seeing the vendors and their wares, but this year, I never actually had enough time to traverse all the aisles. I took several pictures as I was passing through and running into people, but not nearly enough. I know I missed a lot, but there just wasn’t enough time and I arrived at RootsTech already tired.

However, the energy of RootsTech is like no place else and just infects you.

It’s like you can’t drink from the genealogy firehose fast enough!

Let’s Take a Walk

Ok, come along on a walk with me.

Left to right, Lianne Kruger, a speaker, and Courtney, in the FamilyTreeDNA booth. I believe they said they are cousins.

Daniel Horowitz, genealogist extraordinaire, in the MyHeritage booth. More about MyHeritage’s announcements shortly.

Geoff Rasmussen in the Legacy Family Tree Webinars booth. For those who don’t know, there’s lots of good material at Legacy, and the freshly recorded webinars are always free for a week.

Several vendors offer booth talks, including MyHeritage. I love their photo tools and use their site in some capacity almost daily.

One of the RootsTech traditions is ribbons. Collect one, collect ‘em all. Liv’s ribbons almost reach the floor. I think she wins!

Selfies are also a RootsTech tradition. Me, here with Jonny Perl of DNAPainter fame. I owe Jonny an apology as he asked me if I had a minute, and I had to say no because I was on the way to one of my own classes. I never got back to his booth to view his new features. Sorry Jonny – don’t take it personally!

Jonny released a new Ancestral tree version titled Places, so take a look here at his blog. I need to go look at my ancestors Places.

You’ll find this new feature under Ancestral Trees, Places. These are my most recent 8 generations. Just think of all those brave souls who climbed on a ship and sailed for the unknown. Check this feature out and have fun.

In a booth talk, Dave Vance, Executive Vice-President and General Manager at FamilyTreeDNA is speaking about the three types of DNA, which are, of course, Y-DNA, mitochondrial and autosomal DNA – all useful for genealogy in different ways.

Dave is explaining how in-common-with matches, also known as shared matches, operate with the chromosome browser. You can use the chromosome browser, shared matches, the new Matrix Tool, and download your match segment information at FamilyTreeDNA, a combination of features not available at any other vendor.

WikiTree, a free a moderated one-world-tree is one of my favorite genealogy tools. One of their best features is that you find your ancestor, and in addition to lots of sources, their Y-DNA, mitochondrial DNA, and those who are related autosomally are listed. Here’s my grandfather, for example.

Several DNA connections are listed. The further back in my tree, the more DNA connections are found, becuase those ancestors have more descendants.

WikiTree volunteers were wandering around taking pictures of “WikiTreers” holding fun signs.

Paul Woodbury, a long time researcher with Legacy Tree Genealogists, who specializes in DNA. I don’t take private clients anymore, and regularly refer people to Legacy Tree.

Me with Janine Cloud taking our annual RootsTech selfie. Janine, the Group Projects Manager at FamilyTreeDNA and I co-administer one of those projects and accidentally discovered a few years ago that we are cousins too. How fun is this!!!

I wanted this shirt, but by the time I got back to the booth, it was too late. I’m going to order it online from Carlisle Creations, in case you want one too. This is so me.

Land records are critically important to genealogists. Rebecca Whitman’s class was about plotting land plats. What she’s holding is a surveyor’s chain. You’ve read about chain carriers? This is what they carried to measure land boundaries – literally metes and bounds. Some of my best discoveries have been thanks to land records.

The only session I actually got to attend was Gilad Japhet’s “What’s New and Exciting at MyHeritage.” For those who don’t know, Gilad is the founder and CEO of MyHeritage and it’s always great to hear about the new features straight from the top executive who is, himself, a seasoned genealogist. That’s why he started MyHeritage in the first place – 22 years ago in his living room.

Gilad had several wonderful announcements, but the one I’m most excited about is their new Cousin Finder. Cousin Finder finds and reveals cousins who are DNA candidates if they have not yet taken a DNA test.

I’ll be writing more about the MyHeritage announcements soon, but you can read their blog about Cousin Finder now, here, and their Roundup here about the rest of their announcements!

My Last Class – Reveal Your Maternal Ancestors & Their Stories

My last class at the end of the final day of RootsTech was “Reveal Your Maternal Ancestors & Their Stories – Solving Mitochondrial DNA Puzzles.”

Had I tried to coordinate this presentation with International Women’s Day, I could never have done it, but fate winked and here I was.

I’m often asked what it’s like from the presenters’ perspective. This is one of the smaller ballrooms. My earlier sessions were in larger rooms, maybe 3 times this size. I took this picture about 15 minutes before the session started as people were beginning to drift in.

The amazing RootsTech techs had me wired up to microphones and had verified that the audio and video equipment was working correctly, so now it was just waiting.

My cousin, John Payne, who co-administers the Speaks surname project with me, came by and took this great picture of the two of us. We’ve made huge inroads connecting the various Speake(s) lines in America, plus finally proving our home village in England, thanks to the Big Y-700 test, followed by church records. All is takes, sometimes, is that one critical match.

As I sat there, waiting to begin the mitochondrial DNA session, I couldn’t help but reflect upon all of the women who came before me and how fortunate I was to have been in the right place at the right time to be a member of the Million Mito team.

These are my direct matrilineal ancestors who give me, and my daughter, pictured at left, their mitochondrial DNA. I felt them with me as I sat there, waiting.

The woman at furthest right, Barbara Drechsel (1848-1930), immigrated to Indiana from Germany as a child with her parents in the 1850s. Before her came thousands of generations of women with no photos, of course, and no names before Barbara Freiberger, another eight generations earlier, born about 1621 in Germany.

Before that, which was before church and other records, prior to the 30 Years War, this lineage came from Scandinavia where some of my exact matches are still found today.

Before beginning, I said a positive affirmation and thanked my ancestors – so very honored to introduce them. I know they were proud of me, a member of the team that opened the door to the distant past. I wouldn’t be here if not for every one of their lives.

In this session, I would discuss, for the first time ever, the new Mitotree and my/our connection to all of humanity some 7000 generations ago, more or less.

The mutations we carry over those generations form an unbroken chain of breadcrumbs, connecting us to mitochondrial Eve who lived about 145,000 years ago. We revealed that breakthrough finding in the Haplogroup L7 paper, published in 2022.

I’m still in absolute awe that we have been able to both reach that far back in time AND, at the same time, make the newest haplogroups and haplotype clusters genealogically relevant. I will write more about that soon, but for now, I wrote about the Mitotree release here and you can find articles by Katy Rowe-Schurwanz here and here.

I’m very excited about my new mitochondrial DNA results for my ancestral lines that I track and have already made headway on several.

I’m not the only one.

Not only was I excited about my results, many other people have had breakthroughs too, including Mark Thompson, one of our genealogy AI experts who also spoke at RootsTech. I particularly love his AI generated image.

If you haven’t yet, check your mitochondrial DNA results.

It’s a Wrap

Another year done, another RootsTech under our belts. Hopefully everyone is over the “conference crud” by now and are busily applying their newfound knowledge.

You can view either live-cast sessions or RootsTech webinars, here.

I saw a meme posted sometime during the conference that coined the term “exhausterwhelmulated,” a combination of exhausted, overwhelmed and overstimulated at the same time.

I added exhilarated and elated to the mix and asked ChatGPT to draw me a picture of someone at a genealogy conference feeling those simultaneous emotions.

ChatGPT titled this request “Genealogy Conference Overload,” which made me laugh.

The first two attempts looked like the person had a headache, which I fully understood, so I asked ChatGPT to make the person look happy to be there.

This person, carrying a coffee like I often do, looks like they have just discovered the great irony that they have chased the wrong ancestor for some 20 years – with “laugh or I’ll cry” mania being their overwhelm “go to” in that minute.

This one made me laugh too!

Yes, indeed, I think every single one of us, especially at RootsTech, has experienced this exact adrenaline-fueled emotion.

We leave with a VERY long to-do list, exhausted but full of anticipation and buoyed by excitement. Filled with so much gratitude for our cousins and fellow genealogists, the speakers, vendors, DNA to solve thorny problems, new tools and records, FamilySearch who sponsors RootsTech itself and their amazing employees, plus the legions of the volunteers who make it all work.

Thank you! Thank you! Thank you!

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Mitotree is Born

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Mitotree is born and I can hardly contain my excitement.

The Million Mito R&D team members, along with many others at FamilyTreeDNA, are proud to introduce the new Mitotree and mtDNA Discover, which were brought to life thanks to one pivotal entrepreneurial figure, Bennett Greenspan, whose support and vision set the ball in motion and made Mitotree possible.

Left to right, the Million Mito science team is:

  • Goran Runfeldt, Head of R&D at FamilyTreeDNA
  • Dr. Paul Maier, Senior Population Geneticist at FamilyTreeDNA
  • Roberta Estes, DNAexplain, scientist, blogger, author, genetic genealogist, and Genographic Affiliate Researcher
  • Dr. Miguel Vilar, Genetic Anthropologist, Lead Scientist with the Genographic Project, and Professor at the University of Maryland
  • Bennett Greenspan, President Emeritus of FamilyTreeDNA, and avid genealogist
  • John Detsikas, Front End Developer who is responsible for the user interface for both Y-DNA Discover and now mtDNA Discover

The Million Mito Project Inception

The Million Mito Project was launched at RootsTech 2020 and encouraged people to test their mitochondrial DNA, both for their genealogy and to help build the database. More than a million samples were candidates, but only high-quality, full sequence results were used. In the process of building the tree, additional samples were incorporated from other public sources for tree construction.

Drum Roll – The Mitotree

A beta version of the Mitotree is being released today, and boy, is this a big deal.

Before we discuss the rest of what’s coming, I need to mention that the Mitotree is now evergreen, meaning that the tree will be updated periodically, as will mtDNA Discover. This lifetime value is included with the cost of your test, so there’s nothing more to purchase.

Haplogroups will change from time to time, as the tree does, so don’t fall in love with yours, and definitely, no tattoos😊

I’m going to be speaking in terms of “we,” meaning the Million Mito team who built the Mitotree and mtDNA Discover, plus an amazing team of FamilyTreeDNA folks who were absolutely essential in getting this out the door and to you.

The Mitotree is new from the ground up, and yes, haplogroup naming consistency with PhyloTree has been maintained where possible.

One of the unanticipated challenges we encountered was that the 2016 PhyloTree had to be recreated, essentially reverse engineered, to determine the rules they used regarding mutations for haplogroup creation. In other words, which mutations were valid and reliable, which weren’t, determining their relative importance, and so forth.

After the existing 2016 tree was recreated, the next hurdle to overcome was that none of the existing phylogenetic software used in academia would scale from 24,000 samples and 5500 subclades to more than a quarter million samples and 40,000 haplogroups, so that software had to be designed and written by R&D team members.

More information about this process will be forthcoming shortly, and a paper will be published with our methodology, but for right now, let’s look at the user experience and what’s being released now.

Here’s what’s coming today and over the next few days.

The beta Mitotree includes:

  • Over 40,000 branches
  • Over 250,000 mtFull Sequences from FTDNA
  • Over 10,000 third-party full sequences from GenBank, 1000 Genomes, etc.
  • Over 1000 Ancient Connections
  • Over 100 Notable Connections

More is on the way.

The new Mitotree is the tree provided in several formats within mtDNA Discover. You can view the public version of the tree, here, or sign on to your FamilyTreeDNA account and click through from your dashboard to see more.

Today’s Releases

The Mitotree doesn’t exist in a vacuum, so several updates and new features will be rolling out today.

  • mtDNA Discover, which includes the new Mitotree
  • New customer haplogroups for those who have taken mtFull sequence tests
  • New mtDNA matches page

New Haplogroups

New haplogroups have been calculated for FamilyTreeDNA customers who have taken the full sequence test. Those who have taken only the HVR1 or HVR1/HVR2 tests are encouraged to upgrade to the full sequence test.

Not everyone will receive a new Mitotree haplogroup that is different from their classic haplogroup, but most people will. Your original haplogroup is displayed with the classic tag, and the new Mitotree haplogroup with the beta tag.

If your classic and Mitotree haplogroups are the same, it means that either you have no more private variants (mutations) available to form a new haplogroup, or no one else from your lineage has tested yet.

New mtDNA Matches Page

If you click on your mtDNA matches, you’ll notice that the page has been redesigned to look and function like the other FamilyTreeDNA match pages.

If you click to view your matches, you’ll be able to view both the “old” classic haplogroup, and your matches’ new Mitotree haplogroup, plus a new haplotype if they have one. We will talk about haplotypes in a minute.

The people you match are the same as before, but matches may be recalculated in the future.

If you click through to the new mtDNA Discover from your dashboard, you’ll be able to view the public portion of mtDNA Discover, plus the additional customized information provided to FamilyTreeDNA mtFull sequence customers.

mtDNA Discover

If you have taken a full sequence test, sign on to your account to view your new haplogroup, then click on the new mtDNA Discover icon on your dashboard.

If you haven’t taken the mtFull sequence test, but the partial HVR1 or HVR2 versions, you can still view mtDNA Discover on your dashboard, but without the mtFull customization.

Customization that occurs exclusively for FamilyTreeDNA mtFull sequence customers includes:

  • Most detailed placement of your branch on Mitotree
  • Haplotype clusters
  • Additional Ancient Connections
  • Additional Notable Connections
  • The Match Time Tree
  • Globetrekker (coming soon)
  • The Group Time Tree (coming soon)

mtDNA Discover is similar to Y-DNA Discover.

You’ll be able to view a dozen new reports about your haplogroup in addition to the tools provided on your dashboard.

The new Mitotree can be viewed in several formats, each with its unique benefit.

  1. Time Tree – a genetic tree that shows when each haplogroup was formed, plus a country flag for where present-day testers report as the location of their earliest known ancestor (EKA)
  2. Classic Tree – a more traditional view of a phylogenetic tree, including the number of testers on each branch, the variants, or mutations that define the haplogroup, the era and approximate date of formation, and other details about the tree topology
  3. Scientific Details Variants Tab – shows the variants that differ in each haplogroup as you reach back in time
  4. Ancestral Path for the selected haplogroup – outlines your path back to early humans, including Denisovans.
  5. Match Time Tree for you and your matches (must be signed in to your account and click on mtDNA Discover icon)
  6. Group Time Tree (coming soon) for those who have joined projects

Match Time Tree

The Match Time Tree is extremely useful because it overlays your matches, plus their earliest known ancestors (EKA), on a genetic Time Tree, by haplogroup and haplotype, so you can see how you may be related, and when.

You can also see your matches that have now fallen into neighboring haplogroups, which suggests that they probably aren’t as genealogically close as people in your haplogroup. However, that’s not always the case, because mutations can occur at any time.

Haplotype Clusters

A haplotype cluster is a new concept introduced specifically for genealogists with the new Mitotree. Haplotypes are identified by numbered “F” groups. Three are shown, below.

There may be groups of people within a haplogroup that have exactly the same mutations, or genetic signature, and no additional mutations. Still, they may not form a new haplogroup. There could be several reasons for not forming a new haplogroup, including known SNP locations where mutations occur that are known to be unstable, such as location  315, which tends to accumulate random insertions and is ignored because of its known instability.

When multiple people share an exactly identical signature, meaning all of the same mutations, they are shown within a haplotype “F” cluster to provide additional specificity to the tree.

The haplotype has been designed to provide additional granularity to the tree and genealogically relevant information. The haplotype “Fxxxxxx” numbers are randomly generated and have no special meaning.

A word of caution here. While the haplotype sequences are identical, it is still possible that another tester from outside the cluster could be a closer relative. For example, they could have accumulated a fast mutating SNP in the last few generations, which would give them a different signature.

Someone who is actually genealogically close to you may be in a different haplotype, or no haplotype at all because no one matches them exactly. For example, if your aunt or sister has a heteroplasmy, they are a close relative and will be in your haplogroup, but won’t be in your haplotype cluster because of the heteroplasmy. So don’t ignore matches who aren’t in your haplotype.

In the above example, under haplogroup V71b, there is one group of three people of unknown origin, meaning they didn’t enter any location for their earliest known ancestor, plus haplotype F9712482 – all of whom are identical matches to each other, but don’t form a new haplogroup.

Beneath V71b is haplogroup V71b1 with nine people, plus two haplotype clusters. F1965416 consists of two people, and F8189900 consists of 16 people.

You can also see haplotype clusters bracketed on any of the Time Trees in mtDNA Discover as well.

More to Come

There’s more information to come in the next few days and weeks, and at RootsTech. I’ll be writing articles when I get back.

For now, take a look to see if you have a new haplogroup. The new haplogroup rollout is being staggered, and you should receive an email when yours has been posted. But there’s no need to wait. Go ahead, sign in and check now, check out mtDNA Discover, and have fun.

Guaranteed, you’ll learn something new, and you may discover the key to a new ancestor!

Resources

Here are additional resources about the new Mitotree, mtDNA Discover, and the associated updates:

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