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review of scientific and news articles on dna testing and popular genetics

Iceland's deCODE Defunct

Saturday, November 28, 2009
Icelandic genomics firm goes bankrupt

Nature 462/401 
23 November 2009

In a report by Erika Check Hayden, the journal Nature gloated that the innovative personal genomics company deCODE Genetics went out of business, leaving the disposition of valuable genetic data unclear. "After struggling financially for years, the genomics company deCODE, based in Reykjavik, Iceland, filed for bankruptcy on 16 November," wrote Hayden, who follows the genealogy-and-genetics business beat for Nature. "The question now is whether other companies looking to commercialize genomics will follow the same path." 

DNAPrint of Sarasota, Fla., went down that path last February without even an obit in scientific journals.

But according to Kari Stefansson, deCODE's CEO, the fate of the data never was in play since it belonged to individuals who had their DNA tested at their own expense with the service lab of deCODE. The lab, Islensk Erfdagreining, continues to operate today "under the same data and privacy protections as ever, rooted in the Icelandic community and within a tried and tested regulatory environment," wrote Stefansson in a comment on the online report by Nature. 

Such an accidentally-on-purpose misunderstanding is more than sloppy science journalism or bad science. It reveals the fundamental hostility of academic geneticists and related disciplines to commercializing or even popularizing DNA. Geneticists should stop thinking they are doing God's work. They should give up the illusion that the great generality of humankind can only understand, profit from and benefit from their work if they, the scientific intelligentsia, condescend to allow it and specify the conditions and goals of its use. 

Those on the payrolls of governments and public institutions have received so much money they think now they can be governors -- governors of the applications of their research.

Interview with Donald Yates on Blog Talk Radio

Saturday, November 07, 2009
Listen to a broadcast about "anomalous DNA" in the Cherokee by principal investigator Donald N. Yates on Blog Talk Radio from October 29. Host, Rick Ozman of the Oopa Loopa Cafe. Length:  2 hours.

Etruscans Again

Monday, November 02, 2009
When DNA Second-Guesses History . . . and Is Wrong

In a new article in the European Journal of Human Genetics (17/5:693), the enigmatic Etruscans of antiquity are again the subject of a DNA investigation. This time, the study, called "The Etruscan timeline:  A Recent Anatolian Connection," uses mitochondrial DNA to probe the ultimate origins of the people, who appeared on the stage of history in about the eighth century BCE. We know this time frame is fairly accurate because the Romans started their calendar in 753 BCE with the founding of Rome and dated all records A.U.C. (Ab Urbe Condita, "From the Founding of Rome"). Roman historians beginning with Ennius and Livy also recount how early Rome was conquered by the Etruscans and made subject to Etruscan kings for the first few centuries of its existence. 

That is why it is strange that the present article estimates "an [sic] historical time frame for the for the arrival of Anatolian lineages to Tuscany ranging from 1.1=/-0.1 to 2.3+/-0.4 kya B.P." Based, then, on the retrospective coalescence of DNA, this calculates the Etruscans' migration from an original homeland in Anatolia (modern Turkey) to as late as 1200 CE and as early as 390 BCE. What is going on? The Etruscans were clearly seated in Italy 450 years before 390 BCE, and by 1200 CE, they were long since gone as an entity. In fact, by the time of the emperor Claudius, who wrote a lost history of them around 1 CE, the Etruscans were already considered historical oddities and their language dead.

So are geneticists trying to rewrite history? I think it is a case of a fundamental fallacy in their work. Calculation of a time to coalescence is obviously limited by the validity and reliability of the sample, but it is also very often illusory. To take the example of Native Americans, just because geneticists arrive at a time to coalescence of 10,000 years before present, doesn't mean the place of coalescence has to be in Mongolia/Siberia, where they derive all Native Americans. It could just as well be in the Americas. DNA doesn't necessarily tell us anything about geography. But it is often pressed into service to prop up a theory about human migrations. Let us remember, though, that such constructs are just constructs, so DNA cannot be evidence, only confirmation of someone's historical or racial construct.

If one wishes to speak about evidence in a strict sense, however, it is interesting that the researchers (Francesca Brisighelli et al.) found, by mtDNA sequencing, a "novel autochthomous Tuscan brand of haplogroup U7." This can mean that the same U7 turning up elsewhere may be a sign of Etruscan movements.  

Halloween Story: Shades of Peking Man

Friday, October 30, 2009
Scary Findings in Guangxi Region


In a report published in the October 30 number of Science, Chinese paleoanthropologists claimed that the jawbone and teeth unearthed by them recently in the southern province of Guangxi represent a form of man 100,000 years old. Their interpretation of the fossil challenges the Western theory that claims our ancestors peopled the world in a migration out of Africa late in the last Ice Age, about 50,000 years ago. But there is more. American and European scientists stand to lose even more face if China's insistence is true that this early human is a hybrid with H. erectus, a more primitive species also known as Peking Man.

Discoverer Jin Changzhu pointed out that the jawbone curved outward, whereas that of the older species of H. erectus had an inward-sloping chin, and modern human chins generally fut out father than the Guangxi specimen's. Such an intermediate chin, he said, suggested interbreeding with H. erectus

In the West, paleoanthropologists and geneticists for the most part vehemently deny that any interbreeding between species of man could have taken place before our type emerged as the sole and supreme species favored by evolution. Neandertals, they claim, were replaced by modern humans in Europe and died out without a trace in the genetic record about 30-40,000 years ago. 

"The initial publication makes shaky claims based on preconceptions," scoffed Tim White, a paleoanthropologist at the University of California, Berkeley.

The title of the report is "Signs of Early Homo sapiens in China?" It was written by Richard Stone and published on page 655 of Vol. 326, no. 5953, of Science.

The confrontation reminds many of the battle over Peking Man dated to about 500,000 years old. At first, the Chinese maintained that East Asian people were descendants of Peking Man (and not of Africans or out-of-African humans). Later, they modified their view and held that modern Asians represent a hybridization with Peking Man. Possibly all the "races" or continent-specific forms of modern man are the result of anatomically modern humans interbreeding with more primitive hominids in their part of the world. 

We wonder why Western scientists are in such a huff about the conclusions of Chinese paleontologists since there is solid proof of admixture between modern humans and archaic human groups like Neandertals, Homo erectus and Homo floresiensis (the fossils of "hobbits" discovered in Indonesia in 2004). One instance among many of publications demonstrating this possibility is:  Jeffrey D Wall, "Detecting Ancient Admixture and Estimating Demongraphic Parameters in Multiple Human Populations," Molecular Biology and Evolution, vol. 26, no. 8 (August 2009), pp. 1823-27.

Perhaps the right hand of genetics doesn't know what the left hand of anthropology is doing or saying in this country.


Officious or Official Regulation?

Thursday, October 22, 2009
Council of Europe adopts protocol on genetic testing for health purposes

In a report so-titled by Laurence Lwoff in the European Journal of Human Genetics (2009) 17, 1374–1377, first published online in July, it was noted that the Council of Europe has weighed in on one of the most controversial areas of DNA testing, whole-genome sequencing and SNP testing to find genetic predisposition to disease for individual customers. Recent editorials in Nature have called for similar measures in the United States, which is home to 23&me and other companies offering such services.

So far, no regulatory proposals have been aimed at genetic ancestry testing, only medical and health-related screening. One of the warnings often raised in the public discussion on genetic testing for health purposes, however, is that results may confuse and unnecessarily alarm consumers--a criticism that could apply equally to ancestry services.  Another is that commercial research scientists and business operators may jump the gun with findings and peddle bad science, although critics admit that the state of knowledge on nearly every topic of interest to geneticists and medical researchers is in a constant state of flux. A finding about a gene for Alzheimer's will be trumpeted in the pages of a major journal one week only to be updated or withdrawn in the next. 
 
This being the case, one wonders when discoveries will ever be fit to be commercialized or made available to the public. Should science only serve scientists?

We have always maintained that the would-be regulators underestimate moderately educated people's ability to understand emerging science. They overestimate commercial companies' disregard for professional practices and responsible communications. Most of the measures under discussion will have the effect of denying people access to valuable information. Regulation will also hamper growth in a direct-to-the-consumer business with unimaginable promise for society at large. A home paternity test purchased at the corner drugstore may make all the difference in the life of a family. Discovery of varied ancestry through a DNA test can be an important factor in furthering a consumer's interest in other peoples and countries, in history, and ultimately in tolerance of others. DNA testing can help bring peace of mind but it can also help bring peace in the world. 

Many, if not most, of the innovative contributions to society by science have come from non-specialists. The scientific establishment is not oriented toward practical applications of knowledge. The Croatian inventor and engineer Nikola Tesla dropped out of college and never received any formal training. Driven entirely by his natural aptitude for learning, he patented some of the most important contributions to the birth of commercial electricity, including alternating  current (AC) electric power systems and the AC motor. His inventions helped usher in the Second Industrial Revolution. So far from being overpowered by the profit motive, he died penniless at the age of 86 in 1943. No government program or university gave him any support or assistance. Whatever else the Council of Europe deliberated about, we hope they were not cynical or self-important enough to discount the possibility there may be many more popular scientists like Tesla in Europe's future. Science and technology are increasingly becoming a way of life for millions of people around the world who do not happen to have an advanced degree. It is a positive sign that consumers are so eager to take responsibility for their own health they will use the latest innovations from genomics to gain knowledge and control. Scientists should be glad they have such an impact. They should not squander the respect they enjoy in our eyes with pedantic discussions about fixing something that is not broken.  

Isolated populations as treasure troves in genetic epidemiology:  the case of the Basques

Paolo Garagnani et al. (2009) in European Journal of Human Genetics 17: 1490-1494.

The Basques living on the western border between Spain and France are a unique population. "Basques" often comes up as a match in people's DNA Fingerprint results, often because (as is widely believed, at least) a people resembling Basques helped repopulate the British Isles after the last Ice Age. But Basques are not an isolate. This article proves they blend gradually into their closest neighboring populations in Spain and France so they are not a candidate population, as say the Finns are, for the study of disease associations. "Basques do not show the genetic properties expected in population isolates," according to the authors. On the contrary, as many previous studies suggest, the Basques have so much diversity among themselves they were probably the source of population diffusions in prehistory, not a backwater trap for inbreeding.
  

Anomalous Mitochondrial DNA Lineages in the Cherokee

Tuesday, October 13, 2009

Original Post:  

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? Would you like to read the full version? Email me.

Putting the Test to a Test

Thursday, October 08, 2009

In the last blog post, we responded to the call of Nature (the journal, that is) in “Genetics without Borders.” In this, we examine the second of three editorials in this week’s issue concerning regulation of DNA testing companies:  Putting DNA to the Test.” 

It should be pointed out at the beginning that the wrath of the editors descends in unequal fury on commercial enterprises. They are not as irate at ancestry companies as “personal genomics providers.” They seem to have in mind mostly concerns like 23andme, which promises for $399.00 to sequence your personal genome and give you “access to all health, disease, and trait reports” maintained by its staff, together with “ all ancestry features and raw data download.” To the editors of Nature, this is akin to practicing medicine and genetic counseling on the Internet. Spit into a cup, discover your personal DNA sequences and get an email when a medical article mentions your nucleotide position.

The presumptuous and condescending attitude of the editors is evident in their first paragraph (italics added):  “The availability of affordable, direct-to-consumer genetic tests has mushroomed, leaving regulation lagging behind. Dozens of companies now offer inexpensive (elsewhere: cheap) home kits that allow people to spit into tubes, send the samples for DNA analysis and receive a report that allegedly details their ancestry or their possible susceptibility to a long list of disorders that have been linked — often tenuously — to particular genes. But the value of these tests remains debatable, which is why (bad predication in our grammar book) the industry needs a strong set of quality standards and codes of conduct to protect both its consumers and its own credibility.”

Aside from poor writing (which seems to be a requirement for an advanced degree in the natural sciences), there are numerous examples of logical fallacies in this and the rest of the article. Perhaps Wittgenstein was right. What cannot be put into words cannot be thought. What can only be poorly expressed is poorly thought.

It is unclear whether the regulators would extend the same benevolent protection to the academic researchers who also consume genomics laboratory services. A case can be made that even their understanding is not always perfect and up-to-date. Elsewhere in the same issue of Nature are warnings to fellow scientists who make exaggerated claims about their research. The editors also reprove wayward brethren who seek to dip more than once in the immortalizing waters of the Pierian springs, by submitting their work to multiple journals, often under different guises or false pretenses.

The world of science has so much dirty underwear of its own, it is surprising it wishes to examine that of others. Credibility seems to be in short supply everywhere.

Without dissecting what is a mess of snips to start with, let us draw attention to one scenario the would-be regulators raise. “Customers,” they predict, “will frequently receive results telling them only that they face the ambiguous possibility of a somewhat elevated risk of a little-understood disorder.... If the ambiguous, slightly elevated risk relates to a frightening condition such as breast cancer, some individuals might feel compelled to undertake drastic and perhaps needless measures, such as prophylactic mastectomy [surgical removal of a breast to avoid cancer].”

I read this horrific statement to a friend of mine over the phone, who said she had been in that exact situation. Doctors found a lump in her breast. Knowing that ancestry testing had placed her in a category of predisposition to developing breast cancer, she underwent, after due deliberation, “prophylactic mastectomy." “I was thankful I took the DNA test,” she said, “because it gave me information that helped me evaluate my risks.” She says she is sure that if she had not taken the step she did, she would have breast cancer today.

It is arrogant of scientists to think they must protect people from information. This is the stance of a totalitarian state that controls and censures the information consumed by the populace, or of a state religion such as that which ruled supreme during the Middle Ages. It was attempted with disastrous results in so-called “activist era” of the Federal Trade Commission during the 1960’s and 1970’s under Commissioner Mary Gardiner Jones. An institutional ideology of this sort assumes that consumers require protection from scientific information that they may misinterpret and that may lead to personal or social distress. For example, misplaced information like this might lead historically disadvantaged communities to increase their distrust of the scientific establishment . . . . as though the scientific establishment didn’t do enough in that direction!

Another of the editors’ arguments against releasing genetic information to the populace is that genetic information is always evolving and may not be complete. Quoadusque? we may ask with Cicero. When will it be complete? Or complete enough? And who is to make that judgement?

Instead of mad, speculative and needless worry about consumers who are supposedly ignorant and defenseless, why don’t we let reason and the unimpeded flow of information take their course? Those two forces educated, up to a point, the scientists who are now trying to second guess the public. While it may have taught them a lot of facts, it did little apparently to sharpen their powers of philosophical reflection.

 

 

Science Is Only for Us Scientists, Don’t You Know

Tuesday, October 06, 2009
That’s the import of a trio of opinions in this week’s Nature magazine. One of them, “Genetics without Borders,” criticizes a “UK government scheme to establish nationality through DNA testing [as] scientifically flawed, ethically dubious and potentially damaging to science.” The “scheme” is a peer-reviewed program of the UK Border Agency to test whether some 100 asylum-seekers are Somali nationals. The testing uses a combination of SNPs, mitochondrial DNA and Y chromosome, plus other forensic means, to determine whether they are actually Somali or not. (That is, within a high degree of probability, since all inductive conclusions are probabilistic.)  

The editors of Nature fulminate against such methods. Yet these are the tools of the trade used by law enforcement officials and academic geneticists, to say nothing of commercial DNA testing companies. “The idea that genetic variability follows national boundaries is absurd,” they scoff. They are not impressed by the work of fellow scientists John Novembre et al., “Genes Mirror the Geography of Europe,” in Nature 456, 98–101; 2008), saying that the idea that genetic variability follows man-made national boundaries is absurd.” What is absurd is the idea that genetic variability is not molded and delineated by language, culture and historical events – the foundation of national boundaries. It seems to escape the opinion makers that Novembre et al. found that genetic patterns echoed linguistic divisions in Europe. This makes eminent sense in that courtship between most males and females is conducted in the same language. That means within the same nationalistic boundaries. 

Random “mating” of an exogamous nature as envisaged by them is not in the nature of humans. It may be a generalization that can be formed of evolution, which is judged in sweeping retrospective, but it is not true of living people at any given time, in any given land or country. Until the 20th century (and perhaps even today) most people marry someone of the same rather narrowly defined ethnicity as themselves. In fact, until the modern period, an Englishman was most likely to marry a woman whose house was situated only an easy walk away. His horizons --- and thus the eligible gene pool – was limited to a 24 mile square specifically labeled his “country.” 

Geneticists are wont to see human genetics in terms of geologic time, whereas the time depth and landscapes of history are more pertinent. The authors end by urging geneticists, “and indeed all scientists,” to nip the government’s “scheme” in the bud before the public finds out about it and an uprising ensues. This call to action seems to combine scientific cant with a patronizing view of the public. 

Lay persons, and sometimes people outside one’s narrow scientific specialty, just cannot be trusted to get anything quite right, can they?

Another day’s blog will address the other two articles in this week’s Nature, which exhibit similar mandarin attitudes. 

Continuing Discontinuity

Thursday, October 01, 2009
Local Hunter-Gatherers Obstruct Incoming Farmers, Again

In the last post, we saw that there was discontinuity in the genetic record between medieval and contemporary Tuscans. Contradictions keep popping up whenever geneticists seek to show continuity in human populations. The human facts are not obedient to scientific models. The latest example is an article titled, “Genetic Discontinuity between Local Hunter-Gathers and Central Europe’s First Farmers,” appearing in Science 326/5949:137-40 in October. The authors are B. Bramanti, M. G. Thomas, W. Haak, M. Unterlaender, P. Jores, K. Tambets, I. Antanaitis-Jacobs, M. N. Haidle, R. Jankauskas, C.-J. Kind, F. Lueth, T. Terberger, J. Hiller, S. Matsumura, P. Forster and J. Burger.

ABSTRACT
After the domestication of animals and crops in the Near East some 11,000 years ago, farming had reached much of central Europe by 7500 years before the present. The extent to which these early European farmers were immigrants or descendants of resident hunter-gatherers who had adopted farming has been widely debated. We compared new mitochondrial DNA (mtDNA) sequences from late European hunter-gatherer skeletons with those from early farmers and from modern Europeans. We find large genetic differences between all three groups that cannot be explained by population continuity alone. Most (82%) of the ancient hunter-gatherers share mtDNA types that are relatively rare in central Europeans today. Together, these analyses provide persuasive evidence that the first farmers were not the descendants of local hunter-gatherers but immigrated into central Europe at the onset of the Neolithic.

It is not often that the august personages who collaborate in the field of population genetics admit to surprise, but this study exhibits a few wavering moments of – I don’t want to say “humility,” but perhaps slight uncertainty. The main intransigence concerns the large presence of mitochondrial haplogroup U in the skeletons analyzed from Central Europe, 13,400 to 2300 BCE. Whereas these types of U are relatively uncommon in Europe today, they were the dominant population then. Germany and surrounding regions were still very much in the Stone Age. Conversely, the Neolithic types H, T and J, which were supposed to be sweeping across the hinterlands and introducing agriculture from the Middle East (along with a characteristic pottery called Linearbandceramik, German for “linear band ceramics,” or LBK) were evidently thin on the ground and held their distance. Nowhere did the twain meet, for “we found no U5 or U4 types in that early farmer sample. Conversely, no N1a or H types were observed in our hunter-gatherer sample, confirming the genetic distinctiveness of these two ancient population samples.” In other words, even the entrenched types of populations living as neighbors, U and N1a, were not mixing with each other. 

Clinging stubbornly to the “classic model of European ancestry components (contrasting hunter-gatherers with early Neolithic farming pioneers),” the authors explain away the facts in simplistic fashion. With breath-taking generalizations, they assume, and then prove, that the “U types in our hunter-gatherer samples [and their not mixing with the other haplogroups]...extend beyond the local scale.” Do they forget that a study they wrote in the same journal four years ago found a predominance of N1a in skeletons in the same region and time? (see Wolfgang Haak, Peter Forster, Barbara Bramanti, Shuichi Matsumura, Guido Brandt, Marc Tänzer, Richard Villems, Colin Renfrew, Detlef Gronenborn, Kurt Werner Alt, and Joachim Burger, “Ancient DNA from the First European Farmers in 7500-Year-Old Neolithic Sites,” Science 11 November 2005: Vol. 310. no. 5750, pp. 1016 – 1018.)

As T.S. Eliot said, “My end is in my beginning.” Thus, the venture ends where it began, with the assumption that there is but one compelling story to be told in Europe for thousands of years after about 6,000 BCE, and that is the triumphal march of agriculturalists across the genetic landscape. With false humility, the authors conclude, “The extent to which modern Europeans are descended from incoming farmers, their hunter-gatherer forerunners, or later incoming groups remains unsolved.” But circular reasoning is circular reasoning even if it does not beget a strong conclusion.

All such studies presume a starlike and gradual diffusion of people. Hence, they expect to see broad patterns of continuity in time and space. Unfortunately, human history is fraught with disjoint as well as discontinuous phenomena. The ant farm models of population genetics cannot begin to comprehend the complexity of the past or do it justice.  

A Classic Case Study in Genetic Genealogy

Wednesday, September 30, 2009

Newberry Family DNA Project 


A Guest Posting by Sue Simonich

For nearly four centuries, the Newberry legacy has been studied by historians and genealogists. American descendants have pondered ancient progenitors from Normandy and England, to America and back.

Immigration from the West Country of England carried the intrepid Puritans over a rigorous sea to New England. The Newberry family was among those souls, who came to America looking for religious freedom and fortune.  Due to lost or poor record keeping, the relationship between Thomas Newberry who arrived in Dorchester, MA 1630-34, and Richard Newbury at Weymouth, MA, circa 1643, has never been clear. This relationship is the major focus of our project. Additional questions raised by satellite families in America are now being addressed and included in the study.

DNA testing has assisted in solving some enduring, thorny mysteries surrounding the Newberry family. Often you will hear historians in lofty places refute stories passed down from one generation to the next – declaring, “impossible!”  Often these proclamations are backed up by published historical pamphlets or documented mandates, which unfortunately forget human nature - i.e. “rules are made to be broken”. DNA testing sometimes explodes these narrow paradigms. For my Newberry line, it was intermarriage among the Cherokee. I notice there is a similar message in the post "Egyptian, Greek, Phoenician and Hebrew Origins of Cherokee?" from September 15. 

Newberry Family DNA Project

As the first recognized member of the Newberry/Newburgh family in New England, Thomas Newberry, was set to become a high profile character with the Massachusetts Bay Company. Unfortunately, his untimely death in 1635 ended his personal historical record.  Leaving a large legacy, his family prospered in Windsor, Connecticut and his wife remarried.  

Originally arriving on the Recovery of London in 1634, perhaps undocumented children or young adults may have traveled with Thomas Newberry.  To wit, another early planter/settler - Richard Newberry, shows no documentation for his English roots, or how and when he arrived in New England. He only first appears as a land holder/planter in Weymouth, MA circa 1643.  

These are the first individuals bearing the Newberry surname to settle New England. Many Puritan families had documented, close inter-family, business and religious ties. The Newberry/Newburgh family was among those.

Thirty years later, circa 1663, Walter Newbury appeared in Rhode Island.  Next, in the 18th century, we find Samuel the Irish immigrant clamoring onto the stage along with others who appear in the middle of the eighteenth century in Pennsylvania.  With these later, but early Newberry antecedents, the project has expanded, offering exciting insight into various family histories.

On the ground, collateral study in England has taken off as well. We are finding that some of the original work done by Joseph Gardner Bartlett, The Newberry Genealogy, to be in error.  His work was called into question in 1929 by the College of Arms. Arguing his case, he later recanted, realizing the evidence was irrefutable. He died before he could publish addenda to his work. Unfortunately, the bombs of World War II, managed to erect new brick walls, when many old wills were destroyed at Exeter, in co. Devon. DNA studies will hopefully help us unravel knots, created by the loss of these documents.

We welcome all males (descended from father to son) bearing the surname Newberry/Newbery/Newbury/Newburgh etc., to join the project and discover how you fit in the web of the armigerous English lines or discover long lost American cousins.  If you are interested in testing, please contact me at g*o*l*d*s*a*g*e@aol.com (remove asterisks).  

As research continues, a newsletter titled, Newberry Family DNA Project – World Mapping and Research, will be electronically published and emailed to interested parties.  If you wish to keep abreast of our discoveries, simply send an email with the subject line “DNA Project”. Back issues are available. 

We encourage participants in the project to post their thoughts and experiences here on the DNA Consultants blog by using the Comments form at the bottom of the page.


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