Europe in the Year 3000 BCE

The archeogenetics of Europe and transition from hunter-gatherers to Neolithic agricultural societies made a quantum leap forward with the publication of an article investigating haplogroup H, the type carried by about half of Europeans today. But you may have trouble accessing the research in the new journal Nature Communications. I haven't found one ordinary mortal who has actually read the article, because few libraries and hardly any individuals can afford the crushingly expensive subscription to Nature Communications. 

So here is an abstract. 

Maybe If It's First Generation Sex-Linked Testing, Not Autosomal 

Dust off the crystal ball. Scientists consider DNA ancestry services “genetic astrology,” according to a recent BBC article by Pallab Ghosh. In “Some DNA Ancestry Services Akin to ‘Genetic Astrology’,” Ghosh quotes Professor David Balding as maintaining that ‘“such histories are either so general as to be personally meaningless or they are just speculation from thin evidence.’” One article, “Don’t Believe the Guy Who Claims He’s Descended From Vikings,” quotes evolutionary geneticist Mark Thomas, as saying “these tests have so little rigor that they are better thought of as genetic astrology.”  That may be right about some tests. But the key word is “some.”

Not all DNA ancestry tests or companies are created equal.  It is as much an oversimplification to suggest they are as it would be to claim that all lab tests are the same or all pharmaceutical drugs are the same. Do you get a shot for epilepsy when you have diabetes? Hardly. There are DNA tests and there are DNA tests. Customers are generally careful to get  the right medicine from a reputable doctor. A customer needs to be just as careful choosing a DNA test and a DNA ancestry company. Not all DNA ancestry companies, even some of the larger companies, have an ISO certified lab, for instance. This not only guarantees the reliability of results, it is also the highest standard in the genomics industry. A few have this laboratory benchmark, but it is, unfortunately, not required, in direct- to-the-consumer DNA testing. Would you want to entrust your genetic identity with anything less? The buyer needs to be aware that with non-certified labs there is a stronger possibility of contamination or lost or swapped samples. I know someone who was the unknown victim of a sample swapped. He thought he was someone else for two years.

Secondly, there are a variety of tests to choose from. There are sex-linked tests (Y chromosome, X chromosome- mitochondrial) and non-sex linked tests called autosomal. The sex-linked tests are haplotype tests based on genetic markers handed down by the male (Y chromosome, received only by other males) or female (mitochondrial). The industry started out with sex-linked testing, but its limitations dictated a move increasingly to autosomal or non-sex linked testing. There are weaknesses with sex-linked tests.

The mitochondrial genome is small compared with the nuclear genome according to the article “Mitochondrial Genome Analysis with Haplotyping” which means there cannot be that much variation with mitochondrial DNA analysis. For instance, some have expressed doubts that the recently found Leicester skeleton could be Richard III because of the mitochondrial DNA analysis that was done. Live Science writer, Stephanie Pappas, quoted Maria Avila, a computational biologist at the Center for GeoGenetics at the [British] Natural History Museum as saying “people could share mitochondrial DNA even if they don’t share a family tree” (Pappas).  

How is this possible? Mitochondrial DNA is ancient DNA and mutates slowly.  In the article, “Doubts Remain that the Leicester Body is Richard III,” a Mark Thomas at University College London is quoted as saying that “people can have matching mitochondrial DNA by chance and not be related.” So, it might not be Richard III after all. Male line haplotype testing has different limitations. “The Male Y- linked tests have very rapid mutation rates and are very fragile, so you can get a lot of errors with that type of testing,” according to Dr. Donald N.Yates, head of Research and Development for DNA Spectrum.

According to a recent New Scientist article by Colin Baras, “The Father of All Men Is 340,000 Years Old,” the Y chromosome seems more ancient than previously thought. If so, it is also less stable than we thought. Brian Sykes, Professor of Genetics at Oxford University and the author of The Seven Daughters of Eve, makes a strong argument that the Y chromosome is weakening and in trouble in his book, Adam’s Curse. He says it is “doomed to a slow and humiliating decline” (279) because of its instability and rapid genetic mutation and is thus headed toward extinction. Before the 1990’s paternity testing was based on Y chromosome comparisons and limited to fathers and sons. Sometimes, an uncle would be mistaken as the father. Today, it relies on autosomal DNA comparisons, can be applied to females, and is 99.99% accurate.

But then there are non-sex-linked Autosomal DNA tests which are based on a different science altogether. Anyone can take this traditional type of Autosomal DNA test because it does not rely on X or Y chromosomes (women are unable to take the Male Y- linked test and must entice a male in her line, if one is available, to take this test). This test is not testing ancient DNA but  goes back only some four or five generations, so it does not have these limitations. And it provides a complete analysis of all ancestral lines. Not just one line at a time as in haplotype testing. This is next generation ancestry DNA testing and the wave of the future. Moreover, this type of testing is more stable and has more scientific validity as it uses the same science that is used in the legal court system, by the government, and on CSI comparing loci markers to population databases. And two research teams independently reached the same groundbreaking results that the DNA mutation rate is slower than previously thought:  James X Sun et al., in the article, "A Direct Characterization of Human Mutation Based on Microsatellites," in Nature Genetics 44/10 (October 2012):1161-65, and A. Kong et al., in the article "Rate of de novoMutations and the importance of Father's Age to Disease Risk," in Nature 488 (2012):471-75. All done by the magic of math and laws of large numbers.

What does this mean concerning autosomal DNA ancestry tests? They have even more scientific validity. This second-generation type of DNA ancestry testing is based on these same genetic markers, and that is confirmation that the alleles on your DNA that are examined using a statistical basis have been relatively unchanged for the past 20,000 years. That’s about twice the length of what we call world history, hence a meaningful enough time frame for valid inferences about population patterns and ancestry of individuals. These are markers that everyone has (and why anyone can take an autosomal ancestry test).  These genetic markers change at a much slower rate than the Y chromosome which seems to be highly changeable, depending on the father’s age (Kong 201). (The Y chromosome is a marker only males have. It is used for other types of tests: male, haplotype, sex-linked DNA tests. Only males can take these tests, and it only provides information about that one male line).

Of course, anything can be over-interpreted. DNA testing is not magic. Maybe you should put that crystal ball up after all.

Shakespeare painted the last of the York rulers of England as a murderous maniac who was rightly dispatched to hell by Henry Tudor in 1485. But the story of Richard III's skeleton supposedly dug up last year in a parking lot may top that of the Bard for pulling the wool over our eyes. Or it may be the luckiest archeological find since King Tut . . . . 

The last of the York dynasty was buried in Greyfriars, Leicester, but Britons are now talking about re-interring the bones believed to be Richard's in Westminster Cathedral with England's other beloved monarchs. In 2012, a writer from Edinburgh, Philippa Langley, was walking over a particular spot in the municipal parking lot when she got goosebumps and "absolutely knew I was walking on his grave." Langley helped fund an archeological excavation and on February 4, 2013, the University of Leicester confirmed that a skeleton found in the excavation was, "beyond reasonable doubt," that of Richard III, based on a combination of evidence from radiocarbon dating, comparison with contemporary reports of his slight frame, and a comparison of his mitochondrial DNA with two matrilineal descendants of Richard III's eldest sister, Anne of York. 

Hunches and Hunchbacks

According to a BBC article, “Richard III: The Twisted Bones that Reveal a King,” the skeleton had a “striking curvature” that could only be that of the hunchback king. But according to a Daily Beast article, “Unraveling King Richard III’s Secrets,” Shakespeare wrote a century after the fact and had a pro-Tudor, anti-York political agenda. “Portraits made after his defeat that show Richard with a hump- or at least uneven shoulders- are suspect as Tudor propaganda.” There is no historical evidence of Richard III having a “striking curvature” of the spine. Or even “uneven shoulders.”  There is no evidence beyond Shakespeare of his deformity. In fact, there is historical evidence to the contrary. The article, “Richard’s Comeback,” quotes the historian, Thomas More, as saying Richard III was of “bodily shape comely enough, onely (sic) of low stature.” The Countess of Desmond reported that, at a royal ball, Richard was the ‘“handsomest man in the room . . . except for his brother, Edward, and was very well made." 

Despite historical evidence, most articles that discuss remaining doubts about the case like, “Doubts Remain that the Leicester body is Richard III,” miss this point and take it as a historical fact that Richard III had scoliosis as does the skeleton that has been found in the parking lot.

What of historical depictions of Richard III’s face? “No portraits made during his lifetime have survived  and some later copies show signs of having been altered to make him appear more sinister” (“ Richard III: The Twisted Bones”). Nevertheless, a 3D scan of the skull was taken, and a 3D face created and painted. Ashdown –Hill is quoted as telling the BBC in the article, “Richard III Facial Reconstruction Reveals Slain King More than 500 Years After His Death,”that it “largely matched” the “prominent features” in posthumous representations of the king. The artist, Janine Aitken said her part was “interpretive not scientific.” At least it is a pleasant face. But is it Richard III’s face?

Jumping to Forensic Conclusions

And the skeleton includes 10 battle wounds showing Richard III “met a violent death…”eight to the head and two to the body—which they believe were inflicted at or around the time of death. Since he died in a battle, did not other soldiers meet untimely wounds in such a manner?

Not a few scientists are waiting for peer-reviewed results. But there are none. Instead of waiting for a boring academic conference, the sponsors at the Richard III Society chose to release the results via a Hollywood style press conference. 

What kind of DNA analysis was used? Mitochondrial DNA. According to Bryony Jones in his CNN article, “Body Found under Parking Lot is King Richard III, Scientists Prove,” “the mitochondrial DNA extracted from the bones was matched to Michael Ibsen, a Canadian cabinetmaker and direct descendant of Richard III’s sister, Anne of York, and a second distant relative who wishes to remain anonymous.” Well, end of story and close that book. Right? Not so fast. Some scientists believe that the testing done was not sufficient. Why?

Mitochondrial DNA has limitations. It does reflect the deepest ancestry [see The Seven Daughters of Eve by Bryan Sykes], but is also prone to contamination [under such circumstances]( Pappas). Especially when we are discussing skeletons reminiscent of Night of the Living Dead interred improperly for centuries in damp soil. Timothy Bestor, Professor of Genetics and Development at Columbia University Medical Center, is quoted in the NY Academy of Sciences article, “Skeletal Remains of King Richard III Reportedly Discovered,” as saying that the possible quality of the [mitochondrial] DNA [under the given circumstances] was one of his key reasons for skepticism. “’After 500 years or more in a wet environment like England’s, “‘the microbes are going to degrade the DNA. It’s just food to them, ‘” says Dr. Bestor.  And Pappas quotes Maria Avila, a computational biologist at the Center for GeoGenetics at the Natural History Museum as saying, “The DNA results presented today are too weak, as they stand, to support the claim that [the] DNA [sample] is actually from Richard III…more in depth DNA analysis summed to the archaeological and osteological [bone analysis] results would make a round story [She is requesting Autosomal DNA analysis akin to what was done with the hominin discovery of the Denisovans].”  And she wonders about contamination with the type of DNA testing that was done. Avila says that, “Before being convinced of ANY atDNA study, it should be explicit that all possible cautions were taken to avoid contamination” and … “ also warned that people could share mitochondrial DNA even if they share a family tree” ( Pappas). The article, “Doubts Remain that the Leicester Body is Richard III,” a Mark Thomas at University College London is quoted as saying that “people can have matching mitochondrial DNA by chance and not be related.”

And Bestor asserts there other reasons to be skeptical, even though “Richard Buckley, lead archeologist from the University of Leicester, asserts ‘“this is beyond reasonable doubt’” based on genetic and historical forensic evidence.” Bestor argues that beyond the high risk of sample contamination, there are three other “particularly complicating factors.”  Of course, it is often an overlooked fact that “the English aristocracy reproduced within a closed gene pool in order to preserve lineages. This inbreeding results in consanguinity” (“Skeletal Remains of King Richard III”).  Dr. Bestor is quoted as saying, “ You may have the same mitochondrial haplotype, but that does not guarantee a lineal descent from a given individual.” [ Mitochondrial DNA analysis is not the same as Y haplotype DNA analysis because it focuses on deeper ancestry whereas male haplotype DNA analysis is linked to more recent male lines ]. He also points out the possibility of adoption. [The possibility of an adoption or any type of non-paternity event increases as one delves back into the distant past of any family tree]:

Another confounding factor is that, in the 17-25 generations separating King Richard’s sister from her extant relatives, there is a fair chance that children of deceased parents’ may have been adopted by their parents’ siblings somewhere along the way. After all, medieval lives were short. Such adoptions may have been kept private and excluded from historical or genealogical records. 

Moreover, Bestor points out that the “genetic sequences and statistical data are yet to be released” but adds that the “historical evidence is quite compelling.” According to this article, forensic evidence of the bones (1455-1540)matches with the time that Richard III was to have died ( 1485). But didn’t many people die at this same time during the same battle with similar wounds?

We are our DNA. It was not a surprise to find that our entire DNA is Functional (“Junk DNA Isn’t Junk, and That Isn’t Really News”). The surprise is in the discovery of what we can do with what we once thought was junk. According to that recent NPR article, “It is a massive control panel that regulates the activity of our genes.” Our genes “would not work” without it. So instead of being junk- they are critical and “control how cells, organs, and other tissues behave.” But we can also now read the markers and mutations on this “panel” and discover much more information than knowing it is just working efficiently for our body. This knowledge is considered a “major medical and scientific breakthrough” (Ibid.). We just have to read it well.

But first, what is DNA exactly? John Wilwol, in his recent NPR article, “A ‘Thumb’ on the Pulse of What Makes Us Human,” quotes Sam Kean, author of the book, The Violinist’s Thumb And Other Lost Tales of Love, War, and Genius, As Written by Our Genetic Code, as saying that DNA is what makes us who we are. Wilwol further quotes Kean to help us understand what DNA is and how it differentiates from genes: “ ‘While DNA is a thing- a chemical that sticks to your fingers, he writes, genes are more conceptual in nature, …“‘like a story with DNA as the language the story is written in.”

So if DNA is a language how are we able to read it? All parts of our genetic code are now readable and meaningful. Marker locations (loci) are spread across one’s entire genome, not confined to one’s male (Y chromosome) or female (mitochondrial) DNA. (This is how sex-linked, haplotype tests that follow one line at a time are analyzed). Different mutations are handed down genetically – different according to the region where one’s ancestors lived.

Because of this new ability to read markers, consumers are now able to buy Autosomal DNA tests that provide a complete analysis of where all one’s ancestors’ ethno-geographic origins – reflecting the entire spectrum of all ancestral lines. Not just one line at a time as in haplotype testing. This is next generation ancestry DNA testing and the wave of the future. Anyone can take an Autosomal DNA test because it does not rely on X or Y chromosomes (women are unable to take the Male Y- linked test and must entice a male in her line, if one is available, to take this test). The future is now in many ways.

What else can you learn from Autosomal DNA testing? Anne Tergesen, in a recent article in the Wall Street Journal,” quotes Megan Molenyak, author of, Hey America, Your Roots Are Showing, as saying that this relatively new test deciphers the amount of DNA shared between those whose common ancestors lived within the last half-dozen or so generations. Tergersen explains it like this, “Y-DNA and mitochondrial DNA can connect people whose common ancestors lived recently or hundreds of years ago. But to find out how closely you are related—and to locate relatives besides those on your direct maternal or paternal lines—you will need an autosomal DNA test.” (Of course, you would both need one to compare) and “in general, the more DNA two people share, the closer their connection”.

But there are even more things on the horizon with Autosomal DNA for the future. Personalized Medicine. According to a recent Smithsonian article, “Fetal Genome Sequenced Without Help From Daddy,” “A fetus’ entire genome can now be sequenced” from the mother alone with a “99.8% accuracy.” How is that possible? It was just “last month clinicians announced that they could sequence a fetus’ entire genome by taking samples from the pregnant mother’s blood and that of the father to be” (“Fetal Genome”). Now they have a “more difficult, but more complete method [that] uses DNA from the pregnant woman and the fetus to map out every last letter of the fetal genome…with the advantage that it can pick up mutations that a fetus has but its parents do not” (Ibid.).  Rob Stein quotes Dr. Alan Guttmacher, director of the National Institute for the Child Health and Human Development in a recent NPR article, “Genome Sequencing For Babies Brings Knowledge and Conflicts,” as saying, “Instead of screening for currently something like 30 conditions, it would allow you to screen for hundreds if not thousands, [of conditions] at birth.  He goes on to say that, “One could imagine a day where knowing someone’s entire genome sequence at birth, you could really begin to think about structuring health care, their dietary choices, their exercise choices…early in life, in a way that would have an impact on truly lifelong health.” Stein says that this gene sequencing could “spot babies that are prone to conditions such as obesity, diabetes, heart attacks or cancer” and that we may soon be “sequencing all babies when they’re born.”  It could be a wonderful tool. But we are not there yet.

According to Rob Stein in another recent NPR article, “Perfection is Skin Deep: Everyone has Flawed Genes,” Scientists have determined we are all more flawed than they thought. “Researchers discovered that normal, healthy people are walking around with a surprisingly large number of mutations in their genes.” Chris Tyler-Smith of the Wellcome Trust Sanger Institute in Cambridge, England and his colleagues analyzed the DNA of 179 people from several countries who volunteered their genetic information to the 1,000 Genomes Project.

In a published paper in the American Journal of Human Genetics, the researchers reported that though none of the people whose DNA was studied were sick, the average person has about 400 minor flaws and one or two that could contribute to disease. Tyler-Smith says, “It’s a bit surprising that people should be walking around apparently healthy yet we’re seeing known disease-causing mutations in their genomes,” he says. “But the answer was that these tended to be for mild and very often late-onset conditions. Things like heart disease, an increased risk of disease or developing cancer. On its website, the American Diabetes Association highlights the interaction of genetic and environmental factors: “You inherit a predisposition to the disease then something in your environment triggers it. Genes alone are not enough.”

So the problem is not so much with the analytical tool but rather the possibility of over- interpretation. Again, we just have to read it well, with the same critical eye for what is written in us as that which is written by us. And who knows what else we will soon be able to discover from reading our DNA?

The question of ancestry has been of human concern in virtually all cultures and over all times of which we have any knowledge. Whether it be a story about the origin of a particular tribe or nation and its subsequent mixture with other groups, or curiosity about a family history, there is always the implication that we understand ourselves better if we know our ancestors and that we, within ourselves, reflect properties that have come to us by an unbroken line from past generations. As treasurer of the Marlboro Historical Society in Vermont, I am the recipient of requests for printed copies of the Reverend Ephraim Newton’s mid-eighteenth-century history of our town, 70 percent of whose pages consist of “Genealogical and Biographical Notes” and a “Catalog of Literary Men.” Over and over our correspondents write of the “pride” they have in descending from these early settlers.

Surely pride or shame are appropriate sentiments for actions for which we ourselves are in some way responsible. Why, then, do we feel pride (or shame) for the actions of others over whom we can have had no influence? Do we, in this way, achieve a false modesty or relieve ourselves of the burdens of our own behavior? As a descendant of late-nineteenth-century Eastern European immigrants I cannot depend on Reverend Newton’s pages to explain my frequent contributions to The New York Review, but neither have the extensive “begats” in Genesis 10 or Matthew 1 been more enlightening.  Read More...

Behind the Numbers:  Elizabeth Hirschman

  (Part Two of a Series)

We interviewed Rutgers marketing professor Elizabeth Caldwell Hirschman, author of several books and articles incorporating DNA in her research, to hear her personal story in our continuing series about the people behind the scenes in the field of DNA testing.

Elizabeth Hirschman with MBA students at Rutgers in December 2009.

When did you first get interested in DNA?

ECH: I got interested in DNA testing around 2000 when I discovered I was Melungeon after reading Brent Kennedy's 1994 book. Brent suggested several different ancestries that possibly contributed to the Melungeon population and I wanted to find out which of these were correct and which ones I had. I already suspected Jewish ancestry because of the naming patterns in my family over the past 300 years, as well as some of their habits --e.g., not eating pork, getting married in a home instead of a church, cleaning house on Friday afternoon, no eggs with blood spots, washing all meat, etc. We also had some genetic anomalies -- shovel teeth (sinodonty), palatal tori and large rear cranial extensions, as well as polydactylism.

Tell us more.

ECH:  Over the course of the past decade I have been found to have Native American, Spanish, Ashkenazi Jewish, African, Mediterranean and Gypsy/Northwestern India ancestry. My Dad turned out to have substantial Gypsy and African ancestry. He and I share a large cranial rear extension that I believe likely comes from the African ancestry -- the photos I have seen of the !Kung Bushmen look just like our head shapes. My Mom has Native American and/or Sino-Siberian ancestry. She also possessed the Asian teeth and palatal tori found in this group.

You've written several books and articles with Donald Yates; how did that come about?

ECH:  We shared ancestry from the Coopers, a prominent pioneer family in Daniel Boone’s time. In 2000, I wrote him out of the blue when he was a professor in Georgia and introduced myself and asked if possibly the Coopers were Jewish. We began to correspond by email. I told him I was sure one of the reasons I was working so hard to figure out the Melungeon story was because I had to figure out who I am. “Up until last year,”  I remember telling him, “I thought I was Scotch-Irish, English , white and Presbyterian.” It was a big transition to Sephardic, brown and Jewish. It turned out that we were distant cousins and had numerous links in our Melungeon ancestry.

What was a typical publication?

ECH: One article was called “Suddenly Melungeon! Reconstructing Consumer Identity Across the Color Line.” This was published by Routledge in 2007 in a handbook on consumer culture theory edited by Russell Belk.  

How did the Jewish findings play out?

ECH:  On a personal level, both Don and I, as well as his wife Teresa, returned to Judaism, he and Teresa in Savannah and I in New Jersey. On a professional level, we started the Melungeon Surname DNA Project, which focused on Scottish clan and Melungeon surnames (i.e., male or Y chromosome lines), and later included Native American mitochondrial DNA.  Initially, many people in the genetic genealogy community were frustrated that the incoming Jewish DNA results were not originating in the Middle East, as they had strongly believed and hoped, but were showing a lot of Khazar, Central Asian, Eastern European and Western European/Spanish/French input.

Can you elaborate?

ECH:  Critics were not happy that DNA was proving a wider and more inclusive picture of the Jewish people. Where Don and I have performed a service, I believe, is by just following the DNA trail and accepting new findings (e.g., the Gypsy/Roma) when they come in, instead of clinging to an a priori theory/belief/wish, for instance, the claim of a Middle Eastern origin for the majority of Jews.

What tests have you ordered from DNA Consultants?

ECH: I ordered every test as they became available over the years, first the Y chromosome and mitochondrial or male-line and female-line tests and later the autosomal or DNA fingerprint tests that analyze your total ancestry.  I helped organize the first autosomal Melungeon study by contributing samples from my mother and brother and obtaining samples from well-known Melungeons like Brent Kennedy and his brother Richard. Increasingly, our testing took on the aspect of a family group study. For instance, I was able by comparing multiple results from relatives to reconstruct my father’s ancestry quite satisfactorily, even though he died many years ago. I took the Rare Genes from History for all available family members. There is a streak of the Thuya Gene and First Peoples Gene in all of us, as well as the Sinti Gene (which is Gypsy), while my brother Dick got our father’s Khoisan Gene, which is African. Incidentally, it has the same source as the !Kung people and head shape I mentioned before.

If you had H. G. Wells' time machine where would you go?

ECH: I would love to be able to visit my ancestors and see what they looked like, where they lived, how they lived and learn how they got to Appalachia from such disparate parts of the world. I wish I could talk with them. My project now is to visit all the places they are known to have come from and see what the architecture, climate, food, and people are like. That is about as close to "meeting" them as I will be able to get. So far, I’ve traveled to Scotland, Ireland, Wales, England, Spain, Tunisia and Morocco on the trail of my Sephardic Jewish ancestors. I am trying to get to the Silk Road to see Central Asia, Turkey and Northwest India in the near future.

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Phyllis Starnes:  Designer Genes

We interviewed Phyllis E. Starnes, assistant investigator, to find out what fascinates her about the field of DNA testing. Her story is the first in a series titled "Behind the Numbers" about the workers behind the scenes in our industry, from lab technicians to statisticians.

Interviewer:  How did you first get interested in DNA?

PES:  I went to the Melungeon Union in Kingsport [Tennessee, in 2002]. Beth Hirschman had her “stalk,” a diagram of her Melungeon family tree with all the names in her genealogy, many of which were also my surnames. I heard Dr. Yates speak at that meeting. They had their lines all pinpointed, thanks to DNA studies.

Interviewer:  What was your next step after that?

PES:  I came home and did a lot of genealogy research on the computer.

Interviewer: And then?

PES:  The first year DNA Consultants opened for business, which was 10 years ago, I ordered a Y chromosome test for my husband Billy. Other companies were offering the same product, but DNA Consultants was the only one to give you a full analysis and customized explanation of things. Then I ordered my own mitochondrial DNA test.

Interviewer:  Any surprises?

PES:  Billy’s top matches for his male line, the Starnes surname line, were Macedonia and Albania. My mitochondrial mutations matched Native Americans. I became the first of the “Anomalous Cherokees” whose female lineages didn’t fit in the traditional scheme of “Indians out of Asia.” In fact, my Hypervariable Region 2 mutations matched only one other sample in the world, and that was Dr. Yates, who is Cherokee in his direct female line.

Interviewer:  What did your husband and the rest of your family think?

PES:  Some were excited, as I was, but most were just not interested. My kids thought the strong Native American matches were very interesting.

Interviewer:  What other family members did you test?

PES:  As soon as autosomal testing arrived, with the DNA Fingerprint Test, I did Billy and myself, of course, Julia, Kiely and Holli (our three daughters), our granddaughter Keely, my Dad’s sister and Mother’s sister, an uncle and his wife, a niece and a cousin.

Interviewer:  What did you find out?

PES:  Within the immediate family, it was obvious who got which ancestry and trait from whom, and how they all resonated. One of the big surprises was my father’s side, which proved to have quite a bit of Native American and Iberian. The “First Peoples” gene came from his side and passed on down through our girls. On my mother’s side, 11 out of 20 matches was India.

Interviewer:   India!?

PES:  Yes, it appears we were finally seeing the extensive Romani/Gypsy heritage in her family. People had always told me I was like a Gypsy, from my clothes and jewelry to my attitude and outlook. When Billy was in the Navy, I told him one day, ‘I’m tired of being a Gypsy.’ I said I wanted to settle down in one place.

Interviewer:  Did you settle down?

PES:  Yes, we’ve lived in a small town in East Tennessee for almost 40 years. We moved here in 1973.

Interviewer:  Any other surprises in your DNA?

PES:  If you were to chart our geographical matches, both in terms of autosomal DNA as well as the female and male lines, it would surround the Mediterranean. That’s where Familial Mediterranean Fever comes in.

Interviewer:  Who has FMF in your family?

PES:  Billy, myself, Julia, Holli and a cousin. I’m sure others have it but it has not been diagnosed and they may call it instead fibromyalgia. Brent Kennedy [author of a book on Melungeons and their genetics] is a cousin many times over.

Interviewer:  What do you enjoy about your job?

PES:  It’s like a holiday every day. With customers coming out of North Carolina or East Tennessee, I see a lot of the same matches and genealogy I have personally encountered in my own experience with DNA testing. I recognize a lot of genetic cousins.

Interviewer:  When did you first hear the word “Melungeon”?

PES:  I grew up in Southwest Virginia in the little town where the Stony Creek Church is located. The church minutes contain the first written instance of the word. The register is all of mine and Billy’s ancestors, and part of Beth’s [Elizabeth Hirschman, author of books on Melungeons].

Interviewer:  What do you see in the future of DNA testing?

PES:  I think we’ve only glimpsed the tip of the iceberg so far, even though it’s been 10 years. We’ll continue to have new knowledge, new products. I highly recommend our customized approach.

Interviewer:  Any parting shots?

PES:  I’ve worked in sales all my life—jewelry management and design, my own interior decorating shop, running my own hair salon—but I have found something to be truly excited about in DNA. Funny I couldn’t get this excited about selling diamonds! If you think about it, your genes are the ultimate design for living.



Donald Yates and Elizabeth Hirschman speaking at Fourth Melungeon Union, Kingsport, Tenn., in June 2002. Hirschman, a professor at Rutgers University, went on to publish Melungeons: The Last Lost Tribe in America. Yates, a professor at Georgia Southern University at the time, founded a service for evaluating DNA reports that became DNA Consultants. The two authors have collaborated on a number of books and articles, including Jews and Muslims in British Colonial America. 

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Yes, according to Bill Tiffee, whose article on Solutreans in America will appear in volume 29 of the series Epigraphic Society Occasional Papers. Titled "Were Ancient Egyptians the Solutreans Who First Settled America?" the new study, he says, "looks at the possibility that the Solutreans who first settled America were from Egypt, and that the genetic marker X is found in the highest concentrations among the Druze (who migrated from Egypt 1,000 years ago)and the descendants of the Moundbuilder Native groups including the Sioux and Algonquin and possibly the Cherokee."

We have previously suggested that the Cherokee incorporate both Greek and Egyptian DNA. Chapter 3 of Donald Yates' new book Old World Roots of the Cherokee is devoted to the DNA story of the so-called "anomalous" Cherokee lines, including haplogroups T and X. 

Several prominent scholars have argued that Europeans known to archeologists as the Solutreans of France and Spain around 18,000 years ago were the first to settle the Americas. Tiffee examines the similarities between Solutrean and Clovis or Paleo-Indian stone technology and reconstructs the Solutrean culture in Egypt beginning 24,000 years ago (p. 119). He links ancient Egyptians with genetic marker E-M78, mitochondrial haplogroup X, Tula and the Spiro Complex mounds in Oklahoma, among other North American sites. He also discusses the Great Flood of about 10,000 years ago, the legends surrounding Osiris and the rise of agriculture in southern Turkey (Gobekli Tepe). 

"Perhaps," he concludes, "Egyptologists need to rethink their paradigms of ancient Egypt. And perhaps modern Native American descendants of the Moundbuilders, the Algonquin groups, Sioux, Cherokee, Chickasaw (and other Native cultures closely related to mound-building) need to reconsider where their most ancient ancestors came from (129)."

In DNA Consultants' Cherokee DNA study, "Anomalous Mitochondrial DNA Lineages in the Cherokee," as well as numerous blog posts since 2009, it was reported that haplogroups U, T, K, J, N, X and L are found in Cherokee descendants in frequencies mirroring those of Egypt. 

We've known or suspected as much for a long time. American Indians and Turkic peoples of the Altai region of southern Siberia share common ancestors. American scientists Thomas Jefferson and Constantine Rafinesque were the first to demonstrate this genetic similarity, long before the days of DNA. Now an article in American Journal of Human Genetics has clenched the argument with mitochondrial and Y chromosomal DNA studies.

The groundbreaking citation is:  Matthew C. Dulik et al., Mitochondrial DNA and Y Chromosome Variation Provides Evidence for a Recent Common Ancestry between Native Americans and Indigenous Altaians, AJHG 90/2, 229-246. The full article may read here.

From Old World Roots of the Cherokee, a book appearing June 15 by Donald N. Yates:

--Thomas Jefferson thought American Indians were Turks and Tartars coming across the Bering Sea from Asia, while his contemporary John Filson believed them to be Phoenicians. (See Boorstin, Daniel J. The Lost World of Thomas Jefferson, Chicago:  U of Chicago P, 1993.)

--(quoting Rafinesque) "Many other empires having begun to rise in the vicinity of Aztlan, such as those of Bali [Indonesia, perhaps Oppenheimer’s Eden in the East?], Scythia [Russian steppes], Thibet, Oghuz [Lake Baikal area], the Iztacan were driven eastwards, north of China; but some fragments of the nation are still found in the Caucasus, &c. such as the Abians or Abassans, Alticezecs [Altai Turks], Cushazibs, Chunsags, Modjors, &c. 

--"The six Iztacan nations being still pressed upon by their neighbours the Oghuzians [Uigur Turks], Moguls [Mongols], &c. gradually retreated or sent colonies to Japan, and the islands of the Pacific ocean; having discovered America at the peninsula of Alasca [Alaska, a Chinese word], during their navigations, the bulk of the nation came over and spread from Alasca to Anahuac, establishing many states in the west of America, such as Tula [Toltec], Amaquemeca, Tehuajo [Tewa, Tiwa, Tawa], Nabajoa [Navajo], Teopantla, Huehue, and many others.

--"After crossing the mountains, they discovered and followed the Missouri and Arkanzas rivers, reaching thus the Mississippi and Kentucky (26-27)."

How long will it take American history books to catch up to this new proof? We predict:  never. The jingoistic Smithsonian has its own versions of things and these are ingrained into anthropological dogma as deeply as Manifest Destiny. Interestingly, Turkish and Muslim historians have already entered it as a basic fact of history. They have long claimed American Indians as their genetic cousins.

Geneticists seized the opportunity provided by an international Basque cultural event held in Idaho in 2010 to sample volunteers and study Basque DNA. The result was two studies, including "The Y-STR Genetic Diversity of an Idaho Basque population, published in Human Biology.

It was the first DNA study to document the spread of the Basque male chromosome overseas. The Basque people were renowned seafarers.

"The idea is to better understand health risks for Basque people, including an increased incidence of both Alzheimer's and Parkinson's diseases," said Josu Zubizarreta, a Boise State graduate who conducted research with the lead author, Greg Hampikian.

Mitochondrial DNA, which reflects a deeper history, was also studied.

Basques are credited with the invention of the rudder. They provided the crew and navigators for Magellan. Basque names are common on antique maps. The Bay of Biscayne is named for them, and many harbors, points and landfalls on the Atlantic Coast of North America are thought to come from the Basque language, which is known as an isolate and is unrelated to other European languages.

Sculpture of Basque sailor, Victorio Macho, Toledo. Travelpod.

Citation
Zubizarreta, Josu; Davis, Michael C.; and Hampikian, Greg (2011) "The Y-STR genetic diversity of an Idaho Basque population, with comparison to European Basques and US Caucasians," Human Biology: Vol. 83: Iss. 6, Article 2.
Available at: http://digitalcommons.wayne.edu/humbiol/vol83/iss6/2