Maternal Haplogroup K

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Haplogroup K (mtDNA)


Haplogroup K
Possible time of origin 50000 years before present
Possible place of origin Western Asia
Ancestor U
Defining mutations 73, 7028, 11719, 12308, 14766, 16224, 16311
Genomap01
PhloxBotAdded by PhloxBot

Haplogroup K is a group of people who descend from a woman in the Haplogroup R branch of the genographic tree. Because of the genetic diversity in haplogroup K she most likely lived around 50,000 years ago. Her descendants gave birth to several different subgroups, some of which exhibit very specific geographic homelands. The old age has led to a wide distribution of the descendant subgroups that harbor specific European, northern African, Indian, Arab, northern Caucasus Mountains and the Near East. While some members of the group headed north to Scandinavia or South to North Africa, most women in this group crossed the Caucasus Mountains in southern Russia and moved on t the steppes of the Black Sea. The Haplogroup K is currently shared by over 3,000,000 people[1]

Approximately 32% of the haplotypes of modern people with Ashkenazi Jewish ancestry are in haplogroup K.

In his popular book The Seven Daughters of Eve, Bryan Sykes named the originator of this mtDNA haplogroup Katrine.

Haplogroup K (mtDNA)

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Haplogroup K
Possible time of origin 22,700 to 40,400 YBP[1]
Possible place of origin Western Asia
Ancestor U8b'K
Descendants K1, K2
Defining mutations 3480 10550 11299 14798 16224 16311[2]

In human mitochondrial genetics, Haplogroup K is a human mitochondrial DNA (mtDNA) haplogroup, defined by HVR1 mutations 16224C and 16311C.

Contents

  • 1 Origin
  • 2 Distribution
  • 3 Ancient DNA
  • 4 Subclades
    • 4.1 Tree
  • 5 In popular culture
  • 6 See also
  • 7 References
  • 8 External links

Origin

It is the most common subclade of haplogroup U8,[3] and it has an estimated age of c. 12,000 years BP.[4]

Distribution

Haplogroup K appears in West Eurasia, North Africa, and South Asia and in populations with such an ancestry. Haplogroup K is found in approximately 10% of native Europeans.[5][6] Overall mtDNA Haplogroup K is found in about 6% of the population of Europe and the Near East, but it is more common in certain of these populations. Approximately 16% of the Druze of Syria, Lebanon, Israel, and Jordan, belong to haplogroup K. It was also found in a significant group of Palestinian Arabs.[7] K reaches a level of 17% in Kurdistan.[8]

Approximately 32% of people with Ashkenazi Jewish ancestry are in haplogroup K. This high percentage points to a genetic bottleneck occurring some 100 generations ago.[7] Ashkenazi mtDNA K clusters into three subclades seldom found in non-Jews: K1a1b1a, K1a9, and K2a2a. Thus it is possible to detect three individual female ancestors, likely from a Hebrew/Levantine mtDNA pool, whose descendants lived in Europe.[9]

The average of European K frequency is 5.6%. K appears to be highest in the Morbihan (17.5%) and Périgord-Limousin (15.3%) regions of France, and in Norway and Bulgaria (13.3%).[10] The level is 12.5% in Belgium, 11% in Georgia and 10% in Austria and Great Britain.[8]

Ancient DNA

Haplogroup K was found in the remains of three individuals from the Pre-Pottery Neolithic B site of Tell Ramad, Syria, dating from c. 6000 BC.[11] Haplogroup K has also been found in skeletons of early farmers in Central Europe of around 5500-5300 BC. It has long been known that the techniques of farming, together with associated plant and animal breeds, spread into Europe from the Near East. The evidence from ancient DNA suggests that the Neolithic culture spread by human migration.[12]

Analysis of the mtDNA of Ötzi the Iceman, the frozen mummy from 3,300 BC found on the Austrian-Italian border, has shown that Ötzi belongs to the K1 subclade. It cannot be categorized into any of the three modern branches of that subclade (K1a, K1b or K1c). The new subclade has provisionally been named K1ö for Ötzi.[13] Multiplex assay study was able to confirm that the Iceman's mtDNA belongs to a new European mtDNA clade with a very limited distribution amongst modern data sets.[14]

A woman buried some time between 2650 and 2450 BC in a presumed Amorite tomb at Terqa (Tell Ashara), Middle Euphrates Valley, in Syria carried Haplogroup K.[15]

Subclades

Tree

This phylogenetic tree of haplogroup K subclades is based on the paper by Mannis van Oven and Manfred Kayser Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation[2] and subsequent published research.

[show]mtDNA HG "K" p-tree

In popular culture

See also: List of genetic results derived from historical figures

In his popular book The Seven Daughters of Eve, Bryan Sykes named the originator of this mtDNA haplogroup Katrine.

On an 18 November 2005 broadcast of the Today Show, during an interview with Dr. Spencer Wells of The National Geographic Genographic Project, host Katie Couric was revealed to belong to haplogroup K. [2]

On 14 August 2007, Stephen Colbert was told by Dr Spencer Wells that he is a member of this haplogroup during a segment on The Colbert Report.

Meryl Streep is said to belong to Haplogroup K, in the book "Faces of America: How 12 Exraordinary People Discovered Their Pasts," by Henry Louis Gates. NYU Press, Aug 1, 2010. Google eBook [16]

See also

  • Genealogical DNA test
  • Genetic Genealogy
  • Haplogroup K1a1b1a (mtDNA)
  • Human mitochondrial genetics
  • Population Genetics
  • Human mitochondrial DNA haplogroups

Evolutionary tree of human mitochondrial DNA (mtDNA) haplogroups

Mitochondrial Eve (L)
L0 L1-6
L1 L2 L3 L4 L5 L6
M N
CZ D E G Q A S R I W X Y
C Z B F R0 pre-JT P U
HV JT K

H V J T

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ajr-geno2

Oetzi the Iceman is a member of this haplogroup.

Your mtDNA results identify you as a member of haplogroup K. This haplogroup is the final destination of a genetic journey that began some 150,000 years ago with an ancient mtDNA haplogroup called L3.

Haplogroup L3 occurs only in Africa, but on that continent its derivatives are found nearly everywhere. L3′s subclades are most prevalent in East Africa.

This ancient lineage reflects an early divergence from humanity’s common genetic coalescence point.

“Mitochondrial Eve,” the common ancestor of all living humans, was born in Africa some 150,000 years ago. All existing MtDNA diversity began with Eve and it remains greatest, and subsequently oldest, in Africa.

Y chromosome polymorphisms on the male line of descent also point to an African origin for all humans, but our male common ancestor, “Adam,” lived only about 60,000 years ago.

MtDNA and the Y chromosome are independent parts of our genetic makeup and each tells a different tale of successive genetic mutations over the eons. That is why their approximate coalescence points are different. Yet while the dates vary, both paths point emphatically to a surprisingly recent African origin for all humans.

The oldest known fossil remains of anatomically modern humans were found in Ethiopia’s Omo River Valley. The skeletons, known as Omo I and Omo II, have been dated to about 195,000 years ago.

Although haplogroup L3 does not appear outside of Africa it is an important part of the human migrations from that continent to the rest of the world.

A single person of the L3 lineage gave rise to the M and N haplogroups some 80,000 years ago.

All Eurasian mtDNA lineages are subsequently descended from these two groups.

The African Ice Age was characterized by drought rather than by cold. But about 50,000 years ago a period of warmer temperatures and moist climate made even parts of the arid Sahara habitable. The climatic shift likely spurred hunter-gatherer migrations into a steppe-like Sahara?and beyond.

This “Saharan Gateway” led humans out of Africa to the Middle East. The route they took is uncertain. They may have traveled north down the Nile to the Mediterranean coast and the Sinai. Alternatively, they may have crossed what was then a land bridge connecting the Bab al Mandab to Arabia, after which they either skirted the then-lush, verdant eastern coast of the Red Sea or headed east along the Gulf of Aden towards the Arabian Sea.

When the climate again turned arid, expanding Saharan sands slammed the Saharan Gateway shut. The desert was at its driest between 20,000 and 40,000 years ago, and during this period Middle East migrants became isolated from Africa.

From their new Middle East location, however, they would go on to populate much of the world.

N is a macro-haplogroup descended from the African lineage L3. This line of descent, with haplogroup M, traces the first human migrations out of Africa. The ancient members of haplogroup N spawned sublineages found across Eurasia and, eventually, the Americas.

Early members of this group lived in the eastern Mediterranean and Near East region, where they likely coexisted for a time with pre-modern hominids such as Neandertals. Excavations in Israel’s Kebara cave (Mount Carmel) have unearthed Neandertal skeletons at least as recent as 60,000 years old.

Growing cognitive abilities likely gave these Upper Paleolithic humans tremendous social advantages, evidenced by the appearance of modern thought and behavior. This “great leap forward” may have enabled our ancestors to outcompete and eventually replace evolutionary dead-end lineages such as Neandertals.

The macro-haplogroup N is composed of many subclades, which are often geographically distinct.

Learning more about these subclades will add further clarity to the big picture of human genetic diversity, and is a primary goal of the Genographic Project.

Haplogroup R is descended from N and has since dispersed across much of the globe. The lineage, in its many subgroups, appears on all continents except Australia and Antarctica.

Subgroups preHV, U, T, and J are found in Europe and the Near East. The R5 and R6 lineages arose on the Indian subcontinent.

Haplogroup K appeared some 16,000 years ago (on the R line of descent) when Europe’s glaciers finally began a retreat from their ice age maximum. Humans of the era were living in the ice-free refuges of southern Europe?where K is still found in its highest concentrations.

As populations followed the retreating ice northward, the lineage’s descendents spread throughout most of Europe. Tests have revealed that Oetzi, the 5,200-year-old remains of a Copper Age man frozen in an Alpine glacier, belongs to haplogroup K.

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Ötzi the iceman goes to the dentist for the first time: 3D scans reveal 5,300-year-old had terrible teeth and bad breath thanks to bread-heavy diet

  • Researchers say the preserved man probably never cleaned his teeth
  • Displays an 'astoundingly large' number of oral diseases

By Mark Prigg

PUBLISHED: 12:34, 10 April 2013 | UPDATED: 19:10, 10 April 2013

  • Comments (39)
  • Share

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It appears prehistoric man lived off a diet of junk food too.

Ötzi the 5,300-year-old man found frozen in the Italian alps dined on too much bread and cereal porridge, scientists claimed after giving him a dental exam for the first time.

Researchers were stunned by the poor condition of Ötzi's teeth, and found he suffered from several major cavities as well as a damaged front tooth probably caused by an accident. Bread was commonly eaten in the Neolithic period because of the rise of agriculture.

Researchers say the iceman probably never cleaned his teeth, and suffered from bad breath as a result.


Ötzi , the 3,300 year old man found frozen in the Italian alps, has undergone his first dental examination - and researchers found huge problems

This is the skull of the Iceman seen from the front. The genetic increased distance between the central front teeth as well as the severe dental abrasion can be seen, which led to a loss of more than half of the crowns in the front.

The mummy was found in September 1991 in the Ötztal Alps, hence the name Ötzi, near the Similaun mountain and Hauslabjoch on the border between Austria and Italy.

Today it was revealed he displays an 'astoundingly large' number of oral diseases and dentition problems that are still widespread today.

More...

  • DNA scans reveal 5,300-year-old 'Iceman' had brown eyes, relatives in Sardinia - and the first known case of Lyme disease
  • 'A very extraordinary animal': Bizarre 'panda bat' found in South Sudan

Professor Frank Rühli, head of the study, said 'Ötzi suffered from heavy dental abrasions, had several carious lesions – some severe – and had mechanical trauma to one of his front teeth which was probably due to an accident.'

Although research has been underway on this important mummy for over 20 years now, the teeth had scarcely been examined.

Dentist Roger Seiler from the Centre for Evolutionary Medicine at the University of Zurich has now examined Ötzi's teeth based on the latest computer tomography data.

The three-dimensional computer tomography reconstructions give an insight into the oral cavity of the Iceman and show how severely he was suffering from advanced periodontitis.

Particularly in the area of the rear molars, Seiler found loss of the periodontal supporting tissue that almost extended to the tip of the root.

While Ötzi is scarcely likely to have cleaned his teeth, his abrasive diet contributed significantly to a process of self-cleaning.

The fact that the Iceman suffered from tooth decay is attributable to his eating more and more starchy foods such as bread and cereal porridge which were consumed more commonly in the Neolithic period because of the rise of agriculture, the researchers say.

This is the view of the right side of the rows of teeth in a 3D reconstruction. The arrow pointing right shows deep carious lesions, and the arrow pointing left severe bone loss around the molars

In addition, the food was very abrasive because of contaminants and the rub-off from the quern, as is demonstrated by the Iceman's abraded teeth.

His accident-related dental damage and his other injuries testify to his troubled life at that time, the team believe.

One front tooth has suffered mechanical trauma – the discoloration is still clearly visible – and one molar has lost a cusp, probably from chewing on something, perhaps a small stone in the cereal porridge.

Clearly visible is the heavy sanding of the teeth. In a circle on the first molar tooth fracture of the palate side bump is visible. The molar on the opposite side, however, is indeed strongly abraded, its palate-sided enamel edge but still intact.

The loss of the periodontium has always been a very common disease, as the discovery of Stone Age skulls and the examination of Egyptian mummies has shown.

Ötzi allows us an especially good insight into such an early stage of this disease, said explains Seiler.

The Iceman – known widely as 'Ötzi' – is the oldest 'wet' mummy in the world.

Since its discovery in 1991, numerous scientific examinations have taken place.

In 2007, for example, also with the involvement of Frank Rühli, Ötzi's cause of death was determined as probably stemming from internal bleeding.

WHO WAS OTZI?

DNA analysis has revealed details of the iceman's life

The 5,300-year-old 'ice mummy' known as Otzi suffered from the world's first-known case of Lyme disease, a bacterial parasite spread by ticks, according to new DNA analysis.

Otzi, who was 46 at the time of his death and measured 5ft2, also had brown eyes, had relatives in Sardinia, and was lactose intolerant.

Otzi was also predisposed to heart disease.

The new research focused on the DNA in the nuclei of Otzi's cells, and could yield further insights into the famous 'ice mummy's life.

He was unearthed in September 1991 by a couple of German tourists trekking through the Oetz Valley, after which he was named.

He was about 46 years old when he met his death.

The iceman has been crucial to our understanding of how prehistoric people lived, what they wore and even what they ate.

Researchers examining the contents of his stomach worked out that his final meal consisted of venison and ibex meat.

Archaeologists believe Oetzi, who was carrying a bow, a quiver of arrows and a copper axe, may have been a hunter or warrior killed in a skirmish with a rival tribe.

Researchers say he was about 159cm tall (5ft 2.5in), 46 years old, arthritic and infested with whipworm, an intestinal parasite.

His perfectly preserved body is stored in his own specially designed cold storage chamber at the South Tyrol Museum of Archaeology in Italy at a constant temperature of -6°C. Visitors can view the mummy through a small window.

Alongside his remains is a new Oetzi model created using 3D images of the corpse and forensic technology by two Dutch artists – Alfons and Adrie Kennis.


Read more: http://www.dailymail.co.uk/sciencetech/article-2306821/Otzi-iceman-terrible-teeth-bad-breath-researchers-reveal.html#ixzz2Rh4VIbBu
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Anomalous Mitochondrial DNA Lineages in the Cherokee

Tuesday, October 13, 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.

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