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Everyone probably has wondered at some time what makes Aboriginal Australians different from other people, where they came from and how old their ethnic type is. Well, wonder no more. Following up on the previous post, "Australian Aboriginal DNA Gets Attention," this post will summarize the groundbreaking article in Science magazine, M. Rasmussen et al., "An Aboriginal Australian Genome Reveals Separate Human Dispersals into Asia" (Science 334, 7 Oct. 2011, 94-98).

First the abstract:

We present an Aboriginal Australian genomic sequence obtained from a 100-year-old lock of hair donated by an Aboriginal man from southern Western Australia in the early 20th century. We detect no evidence of European admixture and estimate contamination levels to be below 0.5%. We show that Aboriginal Australians are descendants of an early human dispersal into eastern Asia, possibly 62,000 to 75,000 years ago. This dispersal is separate from the one that gave rise to modern Asians 25,000 to 38,000 years ago. We also find evidence of gene flow between populations of the two dispersal waves prior to the divergence of Native Americans from modern Asian ancestors. Our findings support the hypothesis that present-day Aboriginal Australians descend from the earliest humans to occupy Australia, likely representing one of the oldest continuous populations outside Africa.

Above:  Aboriginal Men about 1900 from the Coranderrk Community. La Trobe Picture Collection.

This study of Aboriginals will be cited as a landmark case in genetics because the authors took especial care to disarm any criticism concerning possible admixture and contamination, achieved a stupendous rate of success in sequencing DNA sites and used smart comparators to verify their model of what makes Aboriginals different, including Neanderthals, Denisovans, Andamanese, Filipinos, Indians, Papua New Guineans and Melanesians. Fifty-eight co-authors are listed, with Morten Rasmussen of the Feinstein Institute for Medical Research, Manhasset, New York, named as the first lead author.

First sentence:

The genetic history of Aboriginal Australians is contentious but highly important for understanding the evolution of modern humans.

Some mysteries pointed out about Aboriginal Australian DNA by the authors include:

--The Aboriginal population contains a lot of diversity, including specimens of most of the world's haplogroups, male and female

--Related populations suggested are hunger-gatherers from Nepal and the Philippines, Great Andamanese and Onge from the Andaman Islands, Highland Papua New Guineans and certain peoples from India

--It was previously unclear whether Aboriginals resulted from a single dispersal out of Africa or multiple-dispersal model

--The role of hybridization with other archaic peoples was also not clear.

The authors confirm that "before European contact occurred, Aboriginal Australian and PNG Highlands ancestors had been genetically isolated from other populations (except possibly each other) since at least 15,000 to 30,000 years B.P." Also, "our results favor the multiple-dispersal model in which the ancestors of Aboriginal Australian and related populations split from the Eurasian population before Asian and Europeans split from each other" (97). "We find that the European and Asian populations split from each other only 25,000 to 38,000 years B.P., in agreement with previous estimates."

The new study finds that Aboriginals have an amount of admixture with Neanderthals and Denisovans comparable to Europeans and Asians, although they have more Denisovan DNA than other people. "This admixture may have occurred in Melanesia or, alternative, in Eurasia during the early migration wave" (97).

In sum, the Aboriginals are part of the same first-out-of-Africa branch of the human tree as Europeans and Asians, their ancestors splitting 62,000 to 75,000 years ago from Africans, and leaving relic related populations in the Highlands of Papua New Guinea and the Philippines. A second expansion wave through India, Indo-China and Southeast Asia replaced the original stock, while the Aboriginals became stranded and isolated in Australia about 50,000 years ago. 

"This means that Aboriginal Australians likely have one of the oldest continuous population histories outside sub-Saharan Africa today" (98).

Properly positioning Australian Aboriginals in the expansion of humans out of Africa opens the way to connecting the dots for all the other prehistoric peoples. The migration map presented by Rasmussen et al should be carefully studied for clues about the origins of Asians and Native Americans, to begin with.



Reconstruction of early spread of modern humans outside Africa. Note admixture between early dispersal (red) and second dispersal (black), as well as presence of archaic Denisovans in Asia. Science magazine.

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.

Phyllis Starnes drew many threads of Melungeon research together when she delivered her presentation on autosomal DNA validation studies at the Fifteenth Melungeon Union, held atWarren Wilson College, Swannanoa, NC July 15-16, 2011. Sponsored by the Melungeon Heritage Association of Kingsport, Tenn., the conference was appropriately titled, "Carolina Connections: Roots and Branches of Mixed Ancestry."

Starnes, who is administrator of DNA Consultants' Melungeon DNA Studies as well as an assistant investigator responsible for authoring reports, began her presentation by telling her own story. In 2002, she read an article about the occurrence of Familial Mediterranean Fever in Appalachia, where she grew up. "This article was the catalyst for me to address my own health and ancestry," she told participants.

She had met N. Brent Kennedy, author of the touchstone book The Melungeons:  The Resurrection of a Proud People, and soon became acquainted with both Elizabeth Hirschman (Melungeons:  The Last Lost Tribe in America) and Donald Panther-Yates, both speakers at Melungeon Fourth Union in Kingsport. The resources she needed for understanding her peculiar heritage were coming together.

Starnes summarized the Hirschman-Yates study of Melungeon DNA results published last December in Appalachian Journal and went on to reveal the results of a validation study of the Melungeon data in which the DNA profiles of the 40 participants were fed back into the database atDNA, expanded to reflect the world's only autosomal DNA Melungeon sample.

Astoundingly, many Melungeon DNA project participants had Melungeon as their No. 1 match, including Starnes.

In 1990, physical anthropologist and chemist James Guthrie analyzed blood sampled from 177 Southern Appalachian people identifying as Melungeon tested by Pollitzer and Brown in 1969. Guthrie's analysis was consistent to a remarkable degree with the Hirschman-Yates study.

All studies to date have verified and confirmed repeatedly that Melungeon descendants carry an unusual mix of Jewish, Mediterranean, Turkish, Iberian, Native American and African DNA. They also inherit genetic predispositions toward developing Familial Mediterranean Fever and other disorders.

This overarching thesis explaining what makes Melungeons different was advanced over twenty years ago by Brent Kennedy. It has now been re-examined, probed, tested and validated by unimpeachable followup studies, but little has turned up to change Kennedy's original thinking. It would be wrong to say that Melungeon origins today are controversial or mysterious. There is much we do not know about them, but their genetic and medical profiles are clear.

Starnes is enrolling people in Phase II of the Melungeon DNA Study. She has also inaugurated a password-secured blog where participants can freely share their experiences.

Early experiments with our new Melungeon Match product show that members of the original research study score extremely high for a match to the population Melungeon (n=40) recently added to the database atDNA (Beta Version).

A sample of forty self-identifying Melungeons was assembled for a study by Donald N. Yates and Elizabeth C. Hirschman that should appear in the fall issue of Appalachian Journal. Their autosomal profiles formed the first population to be added to our new computer program atDNA, which contains the database used for the DNA Fingerprint Test. 

As an example, one of the participants, with known Melungeon ancestry including Ramey descent through her father, elicited the following top five matches in the new database, with Melungeon as her No. 3 match:

In the participant's father's results (Floyd Milton Grimwood, deceased), Melungeon was higher, occupying the No. 1 spot:

Such results tend to confirm the representativeness of the original sample, which contained closely and distantly related people of declared Melungeon ancestry, and validate its conclusions.

Melungeon DNA Project Administrator, Phyllis Starnes, who is also a moderator for the Melungeon Forum on DNA Communities, is coordinating the check for Melungeon ranking for the 40 participants. She will have a summary statement ready soon.

Statistically, the results are nothing short of astounding. They show Melungeon autosomal DNA reflects a well-defined population isolate with multiple interrelatedness. Melungeon is a valid historical and scientific label, not an arbitrary or adventitious designation or construct.

Pictured above:  four generations of the Tennessee Melungeon Ramey family.

After many years in development, the results of a DNA ancestry project enrolling 40 Melungeons were published and made public, marking the end of an attempt to solve the mystery of a Southern U.S. ethnic group with autosomal DNA.

Seeming to lay to rest an old controversy in American history about Melungeons, the scientific data supporting a genetic mixture of white, American Indian and Sub-Saharan African were placed online today by the organizers of DNA Consultants' Melungeon DNA Project.

The data report a sample of 40 Melungeons' DNA fingerprints. Population analysis of the participants' DNA fingerprints was used in an article for Appalachian Journal. Titled "Toward a Genetic Profile of Melungeons in Eastern Tennessee," the study was co-authored by Donald N. Yates, principal investigator of DNA Consultants, and Elizabeth Caldwell Hirschman, a professor at Rutgers University in New Brunswick, N.J.

"This is a giant stride forward in understanding the mixed ancestry of Melungeons," said Donald Yates, co-author. "Never before has autosomal DNA been used in attacking the problem."

The 40 participants' names were:

Anonymous, Mabel Bentley, Judy Douglas Bloom, Leah Laura Bulgariev, John (Dick) Caldwell, John R. Caldwell, Sr. (deceased), Virginia Caldwell, William Collins, Mary Goodman, Floyd Milton Grimwood (deceased), Ann Reagan Haines, Linda Barnett Hall, Nancy E. Hammes, Elizabeth Caldwell Hirschman, Pat Goin Jones, Brenda LaForce, Everett LaForce, Jessica Kiely Law, Bonnie J. Lyda, N. Brent Kennedy, Richard Kennedy, Margaret E. Kross, MeriDee Orvis Mahan, Karen Mattern, Sebenia Ann Milbacher, Nicolas J. Millington, Holli Starnes Molnar, Nancy Sparks Morrison, Teresa Panther-Yates, Billy Starnes, Julia Starnes, Keely Starnes, Phyllis Starnes, Richard Stewart, Doretha J. Thornton, Kaye M. Viars, Celia Wyckoff, Wayne Winkler, Betty Yates Adams, Donald N. Yates.

Participants were qualified by their genealogies and included many names familiar to those who follow Melungeon genealogy discussion groups on the Internet, including Brent Kennedy, author of the book 1996 book that started the Melungeon Movement, his brother Richard Kennedy; Elizabeth Hirschman, a native of Kingsport, Tenn., along with several members of her family; Wayne Winkler of the Melungeon Heritage Association and author of Walking Toward the Sunset; and Nancy Morrison, creator of the online Melungeon Health referral service.

More information on DNA Consultants' Melungeon DNA Studies page.

Melungeon family in Tennessee about 1900.

Older version and abstract of "Toward a Genetic Profile of Melungeons"

Implications for Jewish History and Genealogy

Article:  Gil Atzmon et al., “Abraham’s Children in the Genome Era:  Major Jewish Diaspora Populations Comprise Distinct Genetic Clusters with Shared Middle Eastern Ancestry,” The American Journal of Human Genetics 86 (June 11, 2010) 850-859.

This blog posting attempts to summarize this important article and translate its technical results into layman’s language for the sake of our customers. From the genetic evidence, we hope to glean some useful information about Jewish history and genealogy, especially for those who find they have “some” Jewish ancestry in their family tree but who are non-Jewish in the way they identify.

The eleven authors represent a stellar team of international researchers specializing in population genetics. The institutions involved are leading centers of genetics and biomedicine, starting with the Albert Einstein College of Medicine in New York and including Tel-Aviv University in Israel. Appearance in the American Journal of Human Genetics, a publication of the American Society of Human Genetics, assures prestige and finality of the highest order.

The study uses a new sample of 237 carefully qualified Jewish subjects, which it compares with data from the Human Genome Diversity Project started at Stanford in the 1990s, as well as the Population Reference Sample (PopRes) project, containing hundreds of thousands of SNPs (single nucleotide polymorphisms, used to differentiate genes that show heredity lines and disease linkage in populations).

The scale of the project is colossal, and it must have taken years to complete. Financial support came from private and public sources, including the U.S.-Israel Binational Science Foundation and NIH. It supersedes (while it confirms or clarifies) the two types of previous approaches to the problem: 1) genetics studies on blood groups from the 1970s, and 2) recent studies of Y chromosomal and mitochondrial haplotypes. The latter “uniparental” studies could only offer a limited view of the subject. This study uses autosomal DNA to its full advantage. The scientists had supercomputers and the latest tools in biostatistics at their disposal.

Material and Methods

The two cornerstones of any statistical study are reliability and validity. Experts would be challenged to find anything wrong with the reliability of “Abraham’s Children.” State-of-the-science genotyping, phylogeny, bootstrapping and GERMLINE algorithms are employed. But validity issues may be mentioned as likely to call some of the findings into slight question in some areas. Subjects were recruited in New York (Iranian, Iraqi, Syrian and Ashkenazi Jews), Seattle (Turkish Sephardic Jews), Greece (Greek Sephardic Jews) and Rome (Italian Jews). The main divisions into Italian, Ashkenazi, Syrian, Middle Eastern (termed Mizrahi, or Eastern, Jews here) can be seen in some instances to be question-begging, and there are equivocations in labels that might, conceivably, create “desired results.” Moreover, subjects “were included only if all four grandparents came from the same Jewish community.” Such a rule might have influenced one of the findings, namely, that “Jewish Communities Show High Levels of IBD,” or Informative By Descent shared segments of DNA (p. 855f.).

Notably, the conclusion that Ashkenazi Jews are highly inbred, with most being as close as 3^rd or 4^th cousins to each other, could be an effect of the sample selection from New York Ashkenazi Jews, who often emigrated together and belonged to the same synagogue for several generations. A larger, more randomized selection would have been better. The total number of Ashkenazi Jews used was only 34 persons.

Jews now living in Rome are not the same as Roman Jews. Traditional schemes of Jewry speak of the Romaniot Jews, but these were traditionally at home in the Byzantine Empire. Are Syrian Jews mostly Middle Eastern or are they another amalgam of émigrés and remnants? Where are Central Asian Jews like the large Uzbekistani population my local barber represents? The absence of Caucasian and Central Asian Jews may have affected the study’s rather resounding, over-confidant statement that it “refutes” the contention that Ashkenazi Jews have little Middle Eastern heritage and rather more of a contribution to their genetics from Khazars and Slavs. The study, like many, seems at pains to prove Middle Eastern connections of Ashkenazi Jews, who are the leading force in present-day Israel.

There are no German, Dutch, Spanish, Portuguese or English Jews in the study. “Ashkenazi” seems to represent Jews living in New York with rather uniform ancestry in Poland, Hungary, Ukraine, Lithuania and Russia. All Jews in the study seem to be of the “go to temple” (at least on the High Holy Days) sort, although no mention is made of religious orientation. Subjects were chosen because of their ostensibly “pure” Jewish roots.

Ashkenazi Jews at Yom Kippur in 19th century Central Europe from a painting by Gottlieb.

Seven Jewish population clusters are defined: 

1. Irani Jews
2. Iraqi Jews
3. Syrian Jews
4. Ashkenazi Jews
5. Italian Jews
6. Greek Jews
7. Turkish Jews

These were sorted out into three major groups of the Jewish Diaspora:

• Eastern European Ashkenazim
• Italian, Greek and Turkish Sephardim
• Iranian, Iraqi and Syrian Middle Easterners

How Different are Jews from Each Other? From Non-Jewish Populations?

Table 1 on page 853 shows Fst values, which indicate the degree of projected inbreeding within a cluster and allow one to make comparisons between clusters. If we look at the table of genetic diversity among Jews, we can pick out some of the following points of interest:

• Ashkenazi Jews are very, very different genetically from Italian (Sephardic) Jews: genetic distance between the two populations is over 3.1, whereas that between Ashkenazi Jews and non-Jewish European populations such as Russian or French hardly ever goes above 1.0.

• Syrian and Iraqi Jews are also very different from each other; Syrian Jews group together with European (Ashkenazi and Sephardic) Jews, a major finding of the study.

• All Jewish populations, including Ashkenazim, resemble genetically the Druze, a Middle Eastern population that is still in its original place in Lebanon and Israel. Syrian and Turkish Jews (Sephardim) most resemble Druzes.

The study identifies two major groups of Jews, characterizing them as Middle Eastern Jews and European/Syrian Jews. Of the Middle Eastern Jews, the Irani and Iraqi were scarcely distinguishable. The Europeans have varying degrees of admixture with non-Jewish populations into which they have been dispersed. European Jews are 20-40% (or on another page, 30-60%) European, the study concludes, while Sephardic Jews have 8-11% North African (Berber) DNA. Italian, Syrian, Iranian and Iraqi Jews are the most inbred.

All these statistics “highlight the commonality of Jewish origin” and expose the Middle Eastern origins and genetic unity of Jewish people, even in dispersal from their homeland in ancient Israel.

The flipside of inbreeding is outbreeding or exogamy. If European Jews are highly admixed, by the same token, many Europeans must have some degree of Jewish admixture. Gene flow did not go just one way. What are the most outbred Jewish clusters according to the study? It is the Sephardic Jews from Italy, Greece and Turkey, with low rates of shared IBD and greater diversity than the Ashkenazim.

Lost Tribes Still Lost

 The brief Discussion section at the end of the article attempts to put the statistical findings together with an outline of Jewish history and resolve some of the mysteries of Jewish genetic makeup, chiefly the Khazar question. “Each of the Jewish populations formed its own cluster as part of the larger Jewish cluster,” the authors conclude. “Each group demonstrated Middle Eastern ancestry and variable admixture with European populations.”

Next, the authors attack the difficulty of determining when the major split between Eastern and Western Jewish groups occurred (with Syrians falling out with the Sephardim and Ashkenazim in the West, although intermediate in genetic distance with Middle Eastern Jews like the Iraqi and Irani). Based on IBD or calculations of shared genes on the front end or bottlenecks and back end or genetic drift, “a split between Middle Eastern Iraqi and Iranian Jews and European/Syrian Jews…is 100-150 generations [or] 2500 years ago.” They correlate this population divide with the Babylonian and Persian periods of Jewish history. These disturbances began in the 900s-800s BCE when the Kingdom of David fell apart into the Kingdom of Jerusalem and the Northern Kingdom (Samaria , Israel, Ephraim) and were finalized in the 6^th century BCE when King Cyrus of Persia granted permission to the exiles to be repatriated from Babylon to Jerusalem.

In the shuffle, the so-called Lost Tribes representing the Northern Kingdom had been dispersed “beyond the river” into Central Asia, leaving the Judeans in the ascendancy in Israel. Although the authors do not explicity state it, the fact that Syrian Jews are several quantums’ length closer in affinity with European Jews than Middle Eastern Jews seems to reflect the historic Return to Zion and inauguration of the Second Temple in Jerusalem in 516 BCE and explain why European Jews, especially Sephardim, emphasize the House of David and Tribes of Levi in their traditional ancestral accounts. So far, the autosomal clock of change seems to beat with the march of history.

Khazar kingdom in the Middle Ages.

The article is clear about another thing, “the idea of non-Semitic Mediterranean ancestry in the formation of the European/Syrian Jewish groups,” attributing this to the mass conversions and proselytism during Greco-Roman times. It mentions that there were six million Jews in the Roman Empire, when Judaism accounted for 10% of the population. But here is where the authors’ sense of history begins to get fuzzy. They do not speak of medieval conversions or mention, for instance, the Jews of Visigothic and Berber Spain and Septimanian France and gloss over the huge Khazar conversion and expansion event, 600-1000 CE. Again, medieval history does not seem to be geneticists’ strength.

“Abraham’s Children” claims that the genetic composition of European/Syrian Jewish groups “is incompatible with theories that Ashkenazi Jews are for the most part the direct lineal descendants of converted Khazars or Slavs” (857). In this brief sentence are a number of fallacies, special pleading, misnomers, false assumptions, sleights of hand, straw arguments and equivocations. This blog  posting can only touch on the controversy, but to begin with, as we have seen, Ashkenazi Jews (n=34, all from New York) are lumped together with Sephardim and Syrian Jews as having Middle Eastern core pedigrees, even though they have the highest amount of local population admixture. Are Khazars the same as Slavs? Not ethnographically. They are sometimes treated as Middle Easterners and sometimes as Europeans or other interlopers in this article, but it doesn’t seem to matter really, because there are no Khazars in the study sample. The authors are thus stalking a phantom, which they duly track down and slay.

Ghost in the Machine

Using haplogroup studies, the authors raise the possibility of 12.5% non-Middle Eastern admixture per generation in Ashkenazi Jews (based on Hammer et al.). They also draw attention to the 7.5% frequency of haplogroup R1a1 among Ashkenazi Jews, a non-Middle Eastern, rather Eastern European male lineage. But R1a1 is not diagnostic of Khazars; try maybe G. R1a1 descendants are typically fair haired and light-eyed; Khazars had a Middle Eastern, Turkic appearance, with dark features.

In a sense, geneticists always seem to find support for what they set out to prove in the first place. It is small wonder that “Abraham’s Fathers” comes at the end of and completes a decades-long push by Big Science to legitimize Jewish claims to Middle Eastern roots. It is a splendid survey, the last in a long series, but it is not the final word on the subject. There are flaws both in the sampling and historical thinking.

The Thirteenth Tribe (1976) by Arthur Koestler, a Hungarian Ashkenazi Jewish author, advanced the thesis that the modern Jewish population in Central and Eastern Europe is not descended from the historical Israelites of antiquity, but from Khazars. This Turkic people of the Caucasus region converted to Judaism in the 8th century and moved into Russia, Hungary, Ukraine, Poland, Belarus, Lithuania and Germany during the 12th and 13th century when the Khazar Empire was collapsing. Koestler's work was founded on that of the French scholar Ernest Renan and set off a firestorm of controversy among Zionists.