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. 

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.

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. 

Every year in the United States about half a million paternity cases are performed proving or disproving whether an alleged father is the true parent of a child. Sometimes there is a court order to do this; at other times, it is sheerly for personal information. The determination of parentage is made based on a simple comparison of a small rock-hard number of genetic markers in the DNA fingerprint of the child and alleged father. Samples are extracted from a 30-second cheek swab and processed at any of an estimated 2,000 forensic labs across the country. The standard in place since about 1997 has been a set of 30-32 biallelic or double values each person carries on loci spread across their chromosomes, making for a virtually unique identification signature that reflects the equal DNA input of mother and father (and in fact all grandparents and all ancestors).

Often termed CODIS markers (standing for Combined DNA Identification System), these alleles or variations are the magic numbers underlying the popularity of paternity tests as well as the national passion for jailing or exonerating crime suspects. If a value is found in the DNA profile of the child and is not present in the two observed values of the alleged father on the same locus, this constitutes what is known in the paternity business as an exclusion:  the alleged father is almost certainly not the true father. Conversely, if all the alleged father’s values can be detected in the child’s on each location, one after another, that male is judged to be the child’s biological father to a 99.999% certainty. Paternity tests are simple math.

A famous paternity test involved proving who was the true father of the baby born to Anna Nicole Smith in 2006. After her death in early 2007, several men came forward claiming to be in father, including a European prince, Anna Nicole’s bodyguard and a convict who had been a former boyfriend. Larry Birkhead pressed his case. When the results came in, he was declared by Bahamian court to be the baby’s biological father. The child’s original birth certificate was amended to show this.

Can paternity testing be used in a reverse process to establish the identity of a father, given only the child’s DNA profile? No, but with enough DNA profiles available for comparison the missing member of a family group can be reconstructed by comparing alleles they must share, called obligate.  Doing so is a matter of logic and statistics, mostly just either-or, deductive logic.

I became interested in reconstructing a parent’s profile after many of DNA Consultants’ customers inquired if such a calculation or estimate was even possible. Some were adopted persons who had no recourse to testing their parents, some knew one parent but not the other, and some had no access to parents. They were either uninterested or unavailable. In a special category were females who were only-children with both parents deceased who wanted to know something about their father, but who could not take a Y-chromosome haplotyping test, as they did not carry a copy of their father’s male DNA. In this respect, autosomal DNA testing is the great equalizer.

My father, Lawden Henry Yates, died in 1978. My mother, Bessie Cooper Yates, lived to the advent of DNA tests, but I failed to obtain any sample from her before her death in 2006. I had siblings and half-siblings still living, however, so in 2010, I constructed a family group autosomal DNA study with the help of Crystal Wagner at Chromosomal Laboratories/Bode Technology. The results were very satisfying. This paper and blog post will serve as a report to those who are interested.

Step One
I was fortunate to have the participation of three half-sisters by my father, along with his second wife, their mother. Comparing mother and daughters I was able to verify the obligate alleles each daughter must have received from the mother.

Autosomal alleles are fixed in our genealogy, have little or no mutations (unlike YSTRs, which mutate from generation to generation, as do mitochondrial nucleotide positions, though more gradually over time)[*] and derive from both parents equally by recombination at the moment of conception. They are copied and preserved without change in every cell of our bodies. The mother is responsible for half of the equation.  By a process of elimination the other number on each row of the lab report must represent the father’s contributions.  This method is completely logical and unequivocal. There can be no other answer to the problem. No studies suggest these pieces of our double helix DNA change significantly in transmission from one generation to the next or mutate over time in genealogies. Their values and patterns are strictly attributable to heredity.

Step Two
The father’s alleles are confirmed by a comparison with three children by his first wife, my mother.  

Step Three
By the same watertight process we can now proceed to the mother’s reconstructed DNA profile. In it, we can expect to visualize the final piece of the puzzle, proceeding from the known to the unknown according to the immutable laws of autosomal DNA and genetic inheritance.

We have arrived at my mother Bessie Yates’ DNA profile by a multi-step process of extrapolating it using three of her children and three children by her husband’s second marriage, along with the test results of my half-sisters’ mother. Seven tested profiles yielded two reconstructed ones. In the process we have also recovered my deceased father’s DNA profile.

Separating Mother and Father’s Contributions to Ancestry
Having overcome these hurtles, I was most interested in the utility of the results. I felt confidant about the method. But what excited me most was to see how my own autosomal ancestry results might be respectively apportioned in my parents. For this, I ran a DNA Fingerprint Plus on them both. The findings were very satisfying to me personally, helping solve many questions I had always had about what ancestry I got from my father, what from my mother and what from both.

Let’s start with American Indian admixture. My own DNA Fingerprint Test, as well as percentage tests through another company, suggested a relatively large amount, perhaps one-quarter all told by various measures, but family tradition had placed Native American heritage solely on my mother’s side. To be sure, my mother gave me a Native American mitochondrial haplotype, indicating a female line going back to a Cherokee woman in Georgia, traced as far back in records as 1790. Extensive genealogy research showed, however, that my father’s great-grandmother was also a Cherokee with the surname Thomas from North Carolina. What did the new autosomal DNA profiles say?

On a rough measure, I have received a “double dose” of Native American II, a marker co-relating with 80% of 24 tested American Indian populations in the atDNA 4.0 database. (Two siblings and one half-sibling received only single doses.) This seemed to indicate that I had some degree Native American (not possible to say how much) from both parents. True enough apparently, judging from the top world matches for my mother and father. I give here the top ten for comparison.

These results confirmed that my father did have some Native American, although evidently not as much. They also suggested that although both bore about the same mixture of European and Native American ancestry (including high matches to Melungeon), my mother had a more pronounced Native American cast, her highest match being to North Asian, one of the supposed Asiatic feeder populations of Native Americans, whereas my father’s top match was European American. Based on profile frequencies, my father was five times more likely to be European American than American Indian if subjected to forensic profiling, whereas my mother was 18 times more likely to come out as a Siberian Native than Northern European. Sometimes, it seems, exotic ancestry rises to the top. My overall conclusion was that my mother probably had 3/8 and my father 1/8 Native American heritage, which corresponds to their proved genealogies.

In my own profile, combining those of my parents, here are my megapopulation results:

Self (Donald N. Yates)

According to these frequencies, my mother and father’s Native American ancestry reinforced each other in me to make my top four matches Native American (or Siberian-Mongol-Turkic), so that I am about twice as likely to be graded into the Native American category by population statistics than the European. Similar conclusions emerged from my siblings’ tests, and a diminished presence of Native American indicators was confirmed in my half-siblings, although their mother seemed to evince some Native American as well as my father, the shared parent. All participants in this study had grandparents born in North Alabama.

Further observations are possible. For instance, I was surprised to see a large indication of Jewish ancestry in my father’s profile. Genealogy confirms as much, as the family surname is Hebrew (an anagram of Ger Tzedek similar to Katz, Kohen Tzedek). The emigrant Yates figure was reportedly an English Jew in seventeenth-century Virginia. My mother also showed Jewish ancestry. Both parents matched Melungeons, an Appalachian ethnic type suspected to have Sephardic Jewish forebears. My father’s family included uncles named Josephus, Manaen, Irbin, Azariah, Lazarus and Sherith—apparently his Middle Eastern matches were truthful to a partial Muslim background. My mother’s mother was named Palestine, and the names Isaac and Jacob were ubiquitous in her family tree. But neither side of the family claimed any Jewish heritage. It was left to autosomal DNA to reveal that hidden inheritance.

Although never performed before to my knowledge, this method of reconstructing autosomal profiles can be useful to others seeking to recover unavailable relatives’ genetic fingerprints and to separate parents’ contributions to their children’s ethnic and ancestral stories. Since it is based on immutable markers in DNA it rests on more solid ground than Y chromosome alleles or mitochondrial mutations. The challenge in exploiting the method is to have enough subjects in your family group study. In my case, I was fortunate to have a prolific father with six living children. I would like to conclude by thanking all my siblings, half-sisters and my father’s widow. Their participation made it possible to present a true first in DNA genealogy.

Read the working paper
A Method of Reconstructing Parentage and Ancestry by Autosomal DNA Profiles

Go to Learn about DNA

Describing himself as "a cultural geographer by training," Peter McCormick contributed an interesting chapter mentioning Melungeons to a recent volume of political science and anthropological essays. Titled Border Crossings:  Transnational Americanist Anthropology, the collection is edited by Kathleen Sue Fine-Dare and Steven Rubinson and published by the University of Nebraska Press (2009). It may be the first time a practicing academic historian has committed to a considered opinion on the subject since Melungeons first appeared on the radar of Americanists with Price's "tri-racial isolate" definition in the 1950s.

McCormick has a Ph.D. from the University of Oklahoma and is an associate professor of Southwest studies and Native American and indigenous studies at Fort Lewis College in Colorado. His most recent work has been on the autogeography and autohistory of his extended family in the plains, the Southwest, Appalachia, Iberia, South America and the Mediterranean.

Here's how he describes Melungeons (p. 286):

The Melungeon population of Appalachia has been the subject of a tremendous amount of interest and controversy lately. A consensus appears to be building that this population, once thought to be small, is rather large and is a result of the mixing of Iberian and Middle Eastern settlers who had been part of Spanish and English trading parties with the indigenous population of the American Southeast. Later migrations into the Piedmont and upper South by refugees of the Inquisition (Sephardic Jews and Moors) in the seventeenth and eighteenth centuries supplemented this population (see Hirschman 2005; Kennedy and Kennedy 1997). Our families were of this mixture.

Professor McCormick goes on to write about his personal Melungeon genealogy:

Sephardic names include Cuba, Pillo Monnis Callahin, Jorgas, Nassi, Khanadi, Rosa, David, Baez, Santos and Gascon. The families that were at one point crypto Jews include Kieffer, Mayabb, Dula D'Aultun, Baigne and Ball.  Our Melungeon families are Sizemore, Yates, Brashears, Collins, Lucas, Noel, Bass, Kennedy, Davis, Nash, Mullins, Center and Carrico. The family names on the Miller-Guion and Dawes rolls include Tunnell, Mabe, Waller, Yates and Doolin.

McCormick's testimony and evaluation of the evidence, together with his willingness to name names and self-identify as a Melungeon in academia, are important signs that the Melungeon thesis advanced by Kennedy and further documented by Hirschman and others is winning the day.

We thank McCormick for his part in bringing the true story of Jewish and Middle Eastern ancestry in Appalachia to a wider attention.

Review of Border Crossings
For anthropologists and social scientists working in North and South America, the past few decades have brought considerable change as issues such as repatriation, cultural jurisdiction, and revitalization movements have swept across the hemisphere. Today scholars are rethinking both how and why they study culture as they gain a new appreciation for the impact they have on the people they study. Key to this reassessment of the social sciences is a rethinking of the concept of borders: not only between cultures and nations but between disciplines such as archaeology and cultural anthropology, between past and present, and between anthropologists and indigenous peoples.

Border Crossings is a collection of fourteen essays about the evolving focus and perspective of anthropologists and the anthropology of North and South America over the past two decades. For a growing number of researchers, the realities of working in the Americas have changed the distinctions between being a “Latin,” “North,” or “Native” Americanist as these researchers turn their interests and expertise simultaneously homeward and out across the globe.

Melungeon DNA Studies

More information about Melungeons
Toward a Genetic Profile of Melungeons in Southern Appalachia
Melungeon Studies
Melungeon Match

2011 has gone down as the year of faked scholarship, but what if sound (if undaring) research is the victim of scientists' golden dreams of glory?

The prestigious journal Human Immunology first published the article "The Origin of Palestinians and Their Genetic Relatedness with Other Mediterranean Populations," then yanked it, instructing their subscribers to rip out the offending pages because they showed that Middle Eastern Jews and Palestinians are genetically almost identical. As of today, we still found the article online along with the editor's retraction and protests, but you'd better hurry if you want to read it. The censors who guard the scientific fables about Jewish DNA may discover a way to rewrite World Wide Web history as well as world history.

In the meantime, you can read about the whole lamentable mess in The Guardian in a story by Robin McKie, "Journal Axes Gene Research on Jews and Palestinians."

The Gypsies, or Roma, or Romani (so called because of their concentration in Romania) are a far-flung distinctive population with a lot of diversity. In our database, we have samples of four Gypsy populations, plus samples for Romania, Macedonia and Hungary which you can match if you have even a small degree of Gypsy/Romani.

Gypsy DNA can sometimes be conflated or confused with Jewish DNA because both populations originated in the Middle East and often lived in the same Central European areas in modern times, but true Gypsy matches usually come with Indian, especially north Indian matches, because that's where the Gypsies lived around the 900s before they backtracked into Iran and Turkey and eventually crossed the Bosporus into Europe.

The Gypsy language, Romani, shows a strong Romanian influence but its basic vocabulary and grammar point to a north Indian origin.

The Gypsy religion, on the other hand, is not Indian or Hindu but closest to Jewish, Persian and Zoroastrian forms of monotheism.

"It is not known when or why the Gypsies left India but they were living in Iran by the tenth century AD. The Iranian poet Firdausi (c. 930-1020) wrote of the Gypsies in his epic history of the Iranians, the Shah Nama (Book of Kings), that they were originally a tribe of musicians who had been sent to the ruler of Iran by an Indian king. Once they had eaten the ruler out of house and home, the Gypsies took to the roads. By the 11th century Gypsies were living in the Byzantine empire and soon afterwards were spreading through the Balkans. When the Ottoman Turks began to overrun the Balkans in the 14th century, groups of Gypsies dispersed across western Europe, reaching Bohemia in 1399, Bavaria in 1418, Paris in 1421, Rome in 1423 and Spain in 1425. In the early 16th century Gypsies spread to Britain, Scandinavia, Poland and Russia, but the Balkans remained the main Gypsy centre." John Haywood, The Great Migrations from the Earliest Humans to the Age of Globalization (London:  Quercus), p. 142.


Gypsy Migrations according to Haywood.

We always suspected the genetics community of clinging to stale dogmas and being slow to acknowledge emerging new evidence about American Indians. But we did not dream that their officiousness extended to changing the information given by test subjects to bring it into conformity with preconceived conclusions.

Not until we heard Marcy's story.

"Over the years, I've heard complaints that [a DNA testing company] is not really responsive when you have questions about unexpected results," Marcy said. "They usually suggest further testing, which of course, means more revenue to them.

"I've had some major disagreements with [a DNA testing company] over how they list results for mitochondrial haplogroup ancestral origins . . . . I found out they were taking dozens of T2's who had listed their earliest known female ancestor as being from America or the United States, changing this and placing them in the 'unknown' category. They claimed that because our haplogroup was designated European, our ancestors couldn't be from the United States!

"Now this was nonsense, because at the same time, they allowed people to claim other similarly-colonized western countries, like Cuba. It's my opinion that if participants list a country of origin for their earliest known female relative, that should be what is on the web page, not something assigned by [a DNA testing company] because as they told me, it may 'confuse people,' or contradict current scientific data.

"As a consequence [the DNA testing company's] publicly reported ancestral origins has nothing to do with our haplogroup's ancient Cherokee clan mother. The chips should fall where they may."

Now this is not professional behavior on the part of a DNA testing company and it prevents new findings from coming to light.

In a study of 52 individuals claiming direct maternal descent from an American Indian woman, mostly Cherokee, we found that they were unmatched anywhere else except among other participants. Haplogroup T emerged as the largest lineage, followed by U, X, J and H. Similar proportions of these haplogroups were noted in the populations of Egypt, Israel and other parts of the East Mediterranean.

DNA testing companies do a disservice to their customers and to science by failing to call results as they appear without doctoring them. It is time geneticists stopped bringing all American Indians over the Bering Straits and forcing test subjects into the Procrustean bed of outmoded theory.

For more on "anomalous" American Indian haplotypes, visit our Cherokee DNA Studies, now in Phase II testing.

This posting will review some of the material we have previously made available about the science behind our three Jewish markers in the autosomal 18 Marker Ethnic Panel. First, it may be worthwhile to recount the chronology of our testing innovations in this area.

2006 - DNA Consultants introduces the DNA Fingerprint Test, one of the first simple autosomal ancestry tests based on population databases

2009 -Donald N. Yates, Ph.D., principal investigator, makes the discoveries in July that lay the foundation for the DNA Fingerprint Plus, rolled out in early September. The enhanced product includes simple autosomal markers for Native American, European, Jewish, Asian and African ancestry, based upon their frequencies of occurrence in these ethnicities.

2010 - Several important studies on Jewish genetics appear; DNA Consultants introduces Jewish DNA Test

2011 - DNA Consultants releases version 2.0 of its autosomal population database atDNA, marking the addition of the population Melungeon (n=40).

In the Fall of 2010, our project administrator tabulated results for more than 450 people who had ordered a Jewish Ancestry Test through our partner Jewish Voice. It was found that 99.97% showed at least one Jewish marker, that is, had some Jewish ancestry.  Some had all three markers while others had a combination of the three in some way.  The informal study indicated 74% of Jewish Ancestry Test takers had Jewish I, 30% had Jewish II and 82% Jewish III.

A recent comparison of medieval mitochondrial DNA from a Byzantine cemetery with modern populations in Southwest Turkey shows what we have assumed in our population analyses of atDNA 2.0. The integration of historical with archaeological information proves that the little South Anatolian town of Sagalassos has a clearly structured Balkan/Greek maternal population with some ancient Persians and Italians in the mix but no Central Asian (Turkic) contributions discernible. The inference is that when the Turks conquered Anatolia and eventually took control of the Byzantine capital (modern-day Constantinople) they remained largely a ruling class with little penetration into the ancient settlements scattered through Turkey. Even though the general populace accepted their conquerors' religion, Islam, their bedrock DNA did not significantly alter, at least not in the female lines. 

Claudio Ottoni et al., "Mitochondrial Analysis of a Byzantine Population Reveals the Differential Impact of Multiple Historical Events in South Anatolia," Eur. J. of Hum. Genet. (2011) 19:571-76.

Abstract
The archaeological site of Sagalassos is located in Southwest Turkey, in the western part of the Taurus mountain range. Human occupation of its territory is attested from the late 12th millennium BP up to the 13th century AD. By analysing the mtDNA variation in 85 skeletons from Sagalassos dated to the 11th–13th century AD, this study attempts to reconstruct the genetic signature potentially left in this region of Anatolia by the many civilizations, which succeeded one another over the centuries until the mid-Byzantine period (13th century BC). Authentic ancient DNA data were determined from the control region and some SNPs in the coding region of the mtDNA in 53 individuals. Comparative analyses with up to 157 modern populations allowed us to reconstruct the origin of the mid-Byzantine people still dwelling in dispersed hamlets in Sagalassos, and to detect the maternal contribution of their potential ancestors. By integrating the genetic data with historical and archaeological information, we were able to attest in Sagalassos a significant maternal genetic signature of Balkan/Greek populations, as well as ancient Persians and populations from the Italian peninsula. Some contribution from the Levant has been also detected, whereas no contribution from Central Asian population could be ascertained.