DNA Consultants Home of the DNA Fingerprint

In a recent research article published in the journal Molecular Biology and Evolution, a team headed by Silvia Guimaraes of the University of Florence documents how the Tuscans of the Middle Ages preserved Etruscan bloodlines while the contemporary inhabitants of the Italian state of Tuscany seem to have little or no connection with those mysterious antecedents from the Bronze Age. It is an example of discontinuity in the mitochondrial DNA record. The paper is titled "Genealogical Discontinuities among Etruscan, Medieval and Contemporary Tuscans" (published online on July 1, 2009: you must have a subscription or pay to read the full text). The authors are on sure ground with their findings since they had access to ancient, medieval and modern DNA for comparisons.

It is often assumed that whoever lives in a place belongs to a population whose ancestors settled there thousands of years ago, and who created a sort of genetic bedrock beneath the present-day DNA landscape. The Italian study, however, disproves the applicability of this theory in a country famous for suffering many invasions by outsiders but enduring and retaining its native population structure and composition. It was to be expected that the same mitochondrial lineages would be present today that were common in Italy thousands of years ago. Instead, some of them, selectively, just died out over time.

A similar situation was revealed in 2005 with the classification of mitochondrial DNA in 24 Neolithic skeletons from Germany, Austria and Hungary. One-fourth belonged to haplogroup G, a rather rare type today. In fact, today's Central Europeans have a 150-times lower frequency (0.2%) of this mtDNA lineage. The inference is that sometime between 7,500 years ago and the present day, large-scale population replacement or genetic influx took place in Europe. Today, it is haplogroup H that enjoys dominance. (The study is "Ancient DNA from the First European Farmers in 7500-Year-Old Neolithic Sites," by Wolfgang Haak et al., Science 11 310/5750: 1016-18.)

Cases of such discontinuities could be multiplied tenfold or more, especially in the New World. Haplogroup M, a common East Asian lineage, was found in the skeletal remains of two Paleo-Indians about 5,000 years old at the aptly named China Lake in British Columbia, although the message was lost on its discoverers (see R. S. Malhi et al. in Journal of Archaeological Science 20:1-7). A study by Pääbo et al. in 1988 proposed the existence of a previously unknown founding lineage on the basis of mitochondrial DNA extracted from a rare specimen of 7,000-year-old human brain matter in Florida. This discovery was almost immediately dismissed as "of no importance." An analysis of the bone remains of 25 pre-Columbian Mayas by Gonzalez-Oliver's group produced one type of mitochondrial DNA that could not even be classified. The Brazilian geneticist Salzano has remarked that of the 338 ancient cases investigated to date over two-thirds could not be assigned to the conventional six "Amerindian" haplogroups. Researchers found that among the remote Cayapa Indians of Ecuador, one-fifth of genetic variation was "other."

The Etruscan study shows that a whole population can turn over in a few centuries. It doesn't take thousands of years. If this is true, as it seems to be, then the story of the peopling of the Americas has many unwritten chapters. The revised standard version propagated in textbooks and anthropology departments is simplistic and reductive.

Egyptian, Greek, Phoenician and Hebrew Origins of Cherokee?

Donald N. Yates

submitted August 31, 2009

ABSTRACT. A sample of 52 individuals who purchased mitochondrial DNA testing to determine their female lineage was assembled after the fact from the customer files of DNA Consultants. All claim matrilineal descent from a Native American woman, usually named as Cherokee. The main criterion for inclusion in the study is that test subjects must have obtained results not placing them in the standard Native American haplogroups A, B, C or D. Hence the use of the word "anomalous" in the title of a paper prepared by chief investigator Donald N. Yates, "Anomalous Mitochondrial DNA Lineages in the Cherokee."

Most subjects reveal haplotypes that are unmatched anywhere else except among other participants, and there proves to be a high degree of interrelatedness and common ancestral lines. Haplogroup T emerges as the largest lineage, followed by U, X, J and H. Similar proportions of these haplogroups are noted in the populations of Egypt, Israel and other parts of the East Mediterranean (see below).

The Cherokee and Admixture. According to a 2007 report from the U.S. Census Bureau, the Cherokee are the largest tribal group today, with a population of 331,000 or 15% of all American Indians. Despite their numbers, though, the Cherokee have had few DNA studies conducted on them. I know of only three reports on Cherokee mitochondrial DNA. A total of 60 subjects are involved, all from Oklahoma. Possibly the reason the Cherokee are not recruited for more studies, I would suggest, stems from their being perceived as admixed in comparison with other Indians. Accordingly, they are deemed less worthy of study.

In the past, whenever a geneticist or anthropologist conducting a study of Native Americans has encountered an anomalous haplogroup, that is, a lineage that does not belong to one of the five generally accepted American Indian mitochondrial DNA haplogroups A, B, C, D and X, it has been rejected as an example of admixture and not included in the survey results. This is true of the two examples of H and one of J reported by Cherokee descendants by Schurr (2000:253). Schurr takes these exceptions to prove the rule and regards them as instances of European admixture. The governing logic of population geneticists seems to go as follows:

Lineage A, B, C, D and X are American Indian.
Therefore, all American Indians are lineage A, B, C, D and X.

The fallacy in such reasoning is apparent. It could be restated as: "All men are two-legged creatures; therefore since the skeleton we dug up has two legs, it is human." It might be a kangaroo.

"The geneticists always seem to cry 'post-Columbian admixture,'" says Stephen C. Jett, a geographer at the University of California at Davis, "but fail to take into account that there are no plausible post-Columbian sources for the particular genetic mix encountered."

"Anomalous Mitochondrial DNA Lineages in the Cherokee" concentrates on the "kangaroos"- documented or self-identifying Cherokee descendants whose haplotypes do not fit the current orthodoxy in American Indian population genetics. Here are some highlights, organized by haplogroup.

Haplogroup H. Although this quintessentially European haplogroup would seem to be the most likely suspect if admixture were responsible for the anomalous haplogroups, there are but four cases of it.

Haplogroup X. Haplogroup X is a latecomer to the "pantheon" of Native American haplogroups. Its relative absence in Mongolia and Siberia and a recently proven center of diffusion in Lebanon and Israel (Brown et al. 1998, Malhi and Smith 2002; Smith et al. 1999; Reidla 2003; Shlush et al. 2009) pose problems for the standard account of the peopling of the Americas. DNA Consultants Cherokee-descended customers include seven instances of haplogroup X. David E. Lewis (whose Cherokee name is Wayauwetsi) traces his unmatched X haplotype back to Seyinus, a Cherokee woman of the Wolf Clan born on or near the Qualla Boundary in North Carolina in 1862. Two cases represent descendants (unknown to each other, incidentally) of the Cherokee woman called Polly who was the namesake for the Qualla reservation (the sound p lacking in the Cherokee language and being rendered with qu).

Haplogroup J. Two other cases, both J's, are related to Polly, tracing their lines back to Betsy Walker, a Cherokee woman born about 1720 in Soco (One-Town). A descendant was the wife or paramour of Col. Will Thomas, the first chief and founder of the Eastern Band of Cherokee Indians located today on the Qualla Boundary. Views about J are still evolving, but it seems to have originated in present-day Lebanon approximately 10,000 years before present. It is a major Jewish female lineage (Thomas 2002).

Haplogroup U has never been reported in American Indians to my knowledge. In our sample it covers 13 cases or 25% of the total, second in frequency only to haplogroup T. One of the U's is Mary M. Garrabrant-Brower. She belongs to U5a1a* (all U5a1a not matched or assigned) but has no close matches anywhere. Her great-grandmother was Clarissa Green of the Cherokee Wolf Clan, born 1846. Mary's mother Mary M. Lounsbury maintained the Cherokee language and rituals. One of the cases of U2e* is my own. This line evidently arose from a Jewish Indian trader and a Cherokee woman. My fifth-great-grandmother was born about 1790 on the northern Georgia and southwestern North Carolina frontier and had a relationship with a trader named Enoch Jordan. The trader's male line descendants from his white family in North Carolina possess Y chromosomal J, a common Jewish type. Some Jordans, in fact, bear the Cohen Modal Haplotype that has been suggested to be the genetic signature of Old Testament priests (Thomas et al. 1998). Enoch Jordan was born about 1768 in Scotland of forbears from Russia or the Ukraine. My mother, Bessie Cooper, was a double descendant of Cherokee chief Black Fox and was born on Sand Mountain in northeastern Alabama near Black Fox's former seat at Creek Path (and who was Paint Clan). All U2e* cases appear to have in common the fact that there are underlying Melungeon, Cherokee and Jewish connections.

Haplogroup T. "Tara," as she was named by Brian Sykes, is believed to have originated in Mesopotamia approximately 10,000 to 12,000 years ago and to have moved northwards through the Caucasus and westwards from Anatolia into Europe. The closer one goes to its origin in the Fertile Crescent the more likely T is to be found in higher frequencies. The haplogroup includes slightly fewer than 10% of modern Europeans, but accounts for 28% of people in the DNA Consultants study. The great-great-grandmother of Linda Burckhalter was Sully Firebush, the daughter of a Cherokee chief who married Solomon Sutton, the stowaway son of a London merchant, in what would seem to be another variation of the "Jewish trader marries chief's daughter" pattern. Three T1*'s are perfectly matching individuals completely unknown to one another before testing who are clearly descended from the same woman. Two of them claim Melungeon ancestry.

The many interrelationships noted above reinforce the conclusion that this is a faithful cross-section of a population. No such mix could have resulted from post-1492 European gene flow into the Cherokee Nation. So where do our non-European, non-Indian-appearing elements come from? The level of haplogroup T in the Cherokee (26.9%) approximates the percentage for Egypt (25%), one of the only lands where T attains a major position among the various mitochondrial lineages. In Egypt, T is three times what it is in Europe. Haplogroup U in our sample is about the same as the Middle East in general. Its frequency is similar to that of Turkey and Greece. J has a frequency not unlike Europe (a little less than 10%). The only other place on earth where X is found at an elevated level apart from other American Indian groups like the Ojibwe is among the Druze in the Hills of Galilee in northern Israel and Lebanon. The work of Shlush et al. (2009) demonstrates that this region was in fact the center of the worldwide diffusion of haplogroup X.

Phoenicians. On the Y chromosome side of Shlush et al.'s study, male haplogroup K was found to have a relatively high frequency of 11% in the Galilee region (2008:2). K (renamed T in the revised YCC nomenclature) has long been suspected to be the genetic signature of the Phoenicians. A TV show by National Geographic appeared about a year ago titled Who Were the Phoenicians?, in which Spencer Wells of the National Genographic Project, unveiled this theory. Without a doubt it was the Phoenicians, whose name among themselves was Cana'ni or KHNAI 'Canaanites', not Phoenikoi 'red paint people' (Aubet 2001:9-12; cf. Oxford Classical Dictionary s.v. "Phoenicians" ), who are referenced by James Adair when he observes that "several old American towns are called Kan?ai," and suggests that the Conoy Indians of Pennsylvania and Maryland were Canaanites and their tribal name a corruption of the word Canaan. The Conoy Indians are the same Indians William Penn around 1700 described as resembling Italians, Jews and Greeks. By about 1735 they had dwindled to a "remnant of a nation, or subdivided tribe, of Indians," according to Adair (1930:56, 67, 68). One of the oldest Cherokee clans is called Red Paint Clan (Ani-wodi).

So do the two subclades of X and other haplogroups represent Old World and New World branches diverging from each other as long ago as 30,000 years, or do the Native American "anomalous" haplotypes come more recently (but not as late as Columbus) from the same source in the East Mediterranean? The answer probably depends on how open one is to new evidence and revisionary thinking. According to Jett, "The splits may have taken place well before transfer, with one only or both being transferred to a new place and then one dying out in the home area (and the other in the new area, if both were transferred)." The distinction, at any rate, is irrelevant to the Cherokee who exhibit these not-so-rare haplogroups, although to those denied authenticity on the basis of anthropologists' hardened ideas about the genetic composition of American Indians it is welcome vindication either way.

References
1. Adair, James (1930). Adair's History of the American Indians, ed. by Samuel Cole Williams, originally published London, 1775. Johnson City: Watauga.
2. Richards, Martin et al. (2000). "Tracing European Founder Lineages in the Near Eastern mtDNA Pool." American Journal of Human Genetics 67:1251-76. Supplementary Data. URL: http://www.stats.gla.ac.uk/~vincent/founder2000/index.html.
3. Schurr, Theodore G. (2000). "Mitochondrial DNA and the Peopling of the New World," American Scientist 88:246-53.
4. Shlush, L. I. et al. (2009) "The Druze: A Population Genetic Refugium of the Near East." PLoS ONE 3(5): e2105. URL: http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2324201

When Objects Become Subjects
(and Talk Back to Researchers)
Review
Paul Brodwin, "'Bioethics in Action' and Human Population Genetics Research"

Population genetics experts who lecture in the groves of academe or trudge through the jungles of the Amazon are not immune to racist bombshells and political dynamite. In 1991, Stanford geneticist Luigi Luca Cavalli-Sforza announced a project to study human genetic diversity. The ponderous monograph that issued forth in 1994 became as revered as it was unreadable. His History and Geography of Human Genes posited two main limbs in the human DNA tree, the African and non-African, with the latter branching off into Europeans (Caucasians) and Northeast Asians. Included in Northeast Asians were the so-called Amerindians. Amerinds were closest in genetic distance to Northern Turkic, Chukchi and other Arctic and Mongolian peoples.

Little did Cavalli-Sforza and his team expect to encounter any opposition to their benign project, much less withdrawal of funding by the U.S. government and United Nations, but this is exactly what happened. The genial professor was surprised one day by a letter from a Canadian human rights group called the Rural Advancement Foundation International. The group demanded he stop his work immediately. It accused the Human Genome Diversity Project of biopiracy, stealing DNA from unsuspecting indigenous people and mining it for valuable information pharmaceutical companies could use to make drugs Third World people could not afford.

Paul Brodwin's article published in 2005 in the journal Culture, Medicine and Psychiatry (29:145-78) reviewed this controversy, which had some positive repercussions in forcing researchers to rethink colonialist attitudes toward their subjects. But in the second case of "bioethics in action," Brodwin painted a much more ambiguous picture. It concerned the use of genetics by the ethnic group called Melungeons of Tennessee and Virginia to prove identity claims and press their ideas of special entitlements.

In the section of the article titled "The Reinvention of Melungeon Ethnicity," Brodwin chronicles the conflict between scientific genetics and the Melungeons' demand for collective recognition. Complicating this issue is that the academics were by no means certain among themselves about who or what Melungeons were from an anthropological perspective. A rancorous standoff between Virginia DeMarce and N. Brent Kennedy was matched by the tendentious nature of the Melungeons' own theories and assertions about themselves. Was there even such a thing as Melungeons or were they simply genealogical ghosts and lurid creations of popular journalism? Did they truly have some black and American Indian ancestry? Was the title only to apply to people in and around Newmans Ridge in Hancock County, Tennessee, or be extended to a wide range of persons of mixed ancestry like the Carolina Turks and Lumbee Indians? If the Melungeons went back before the arrival of Europeans, could they seek legal recognition as an indigenous American Indian tribe?

Questions abounded and it seemed all of them were murky, emotionally charged and political. Unlike the Human Genome Diversity battle, neither party seemed to gain any advantages in the free-for-all. There were apparently no lessons to be learned on either side. At the end of the day, everyone just gave up and went home, exhausted.

Brodwin obviously sympathizes with the forces of the Academy in all this. He throws his lot in with the geneticist Kevin Jones, who found "he did not control the goals of research or the interpretation of findings." The Melungeon fracas illustrated "the political and conceptual vulnerabilities of human population genetics." In my opinion, however, Brodwin missed the point. Whom do university professors and academic researchers serve, if not the public? They should rejoice that so many of the great unwashed (even in the hills and hollers of Tennessee) are engaged by and even interested in their research. And if they cannot achieve a satisfactory dialogue with their lay critics, whose fault is that? The debate should continue, not be swept under the rug of philosophical reflection. Whatever else they might be, Melungeons are people. As such, they should not be dismissed when they become intractable.

Introducing the DNA Fingerprint Plus

Since the disappearance of DNAPrint and AncestryByDNA from the market in February the demand for an autosomal test that would tell you whether you had Native American or other admixture and estimate what mix you had, has been unmet. While it is doubtful, for many reasons, there will ever be a test that can assign percentages to ethnicities, DNA Consultants has developed a panel of 18 markers potentially evident in a person's CODIS profile that have high probabilities for signaling different ethnic contributions. The Ethnic Panel has been added to the company's DNA Fingerprint Test in the DNA Fingerprint Plus.

As with all genetic markers, the fact that you do not have a marker does not mean that you lack that type of heredity, but its presence is a strong indicator of likelihood that you do possess certain genes. Because we receive one allele or unit of variation from one parent and one from another, and each parent possesses two themselves, one person can fail to inherit, say, a Native American marker but a sibling can have it.

DNA Consultants' chief investigator Dr. Donald Yates made the discoveries in July that laid the foundation for the new product, which was rolled out in early September. Like the CODIS test it is based on, the DNA Fingerprint Plus reflects your total ancestry, not just a male or female line. The 18 Marker Ethnic Panel costs $50.00 and there is no need to repeat any testing. It uses the results of your DNA Fingerprint Test.

The markers include checks for Native American, Ashkenazi Jewish, Northern European, Mediterranean, Sub-Saharan African, Asian and other types of probable contributions to your overall genetic legacy. They do not tell you how much of a given ancestry you may have or what line in your genealogy it might come from.

The way the Panel works is this: Depending on your ethnic mix, your score on a certain allele may fall near one end or the other on a probability scale. All these polarizations in the data correspond to major forks in the road of prehistoric human migrations. They support the conclusions of Oxford geneticist Stephen Oppenheimer and others that early humans left Africa in one or two migrations that gave birth to all the ethnic types in the rest of the world, from Australian Aborigines to Europeans. Native Americans and Europeans are closer, genetically speaking, than Native Americans are to Asians. One of the markers apparently reflects a divide between Asian ancestry on the one hand and European/Native American on the other. It is useful in distinguishing between Asian and Native American, two ethnicities that have a high degree of shared deep ancestry and are often otherwise mistaken for each other. Some ethnic markers can be shown by certain control measures to be a "false positive" and not indicative of that ancestry at all. They are also listed in the DNA Fingerprint Plus report.

Question or comment? Email me.