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Will explore theme of official and unofficial ethnic self-identification from perspectives of genetics, marketing and other disciplines

A team of professors has just submitted a proposal for a 90 minute panel discussion at the 12th International Diversity Conference in Vancouver, B.C., June 11-13, 2012.

We'll use this blog to announce updates and you may place comments here and link to it.

Title:
Perspectives on Ethnic Identity: Epigenetics, Marketing, DNA and Genealogy

Panelists:
Donald N. Yates, DNA Spectrum
Dr. Anne Marie Fine, Fine Natural Medicine
Elizabeth Caldwell Hirschman, Rutgers Business School
Teresa A. Panther-Yates, Paradise Valley Community College, Phoenix
Wendy D. Roth, University of British Columbia
Phyllis E. Starnes, DNA Consultants

Description
Genetics has transformed many of our notions of race, ethnicity and identity. How do people in North America's melting pot of emigrants admixed with indigenous and African slave descendants self-identify when naming their primary and ancillary ancestries for official and unofficial purposes? The fundamental question of who you are and what you claim to be will be raised from the perspectives of marketing and consumer studies, sociology and direct-to-the-consumer DNA testing, genealogy (with a focus on the ethnic group known as Melungeons), epigenetics and medical marketing, and the special case of American Indian Descendants and Partial Descendants.

Stream: Identity and Belonging; the Politics of Diversity; Globalisation
Presentation Type: 90 minute Colloquium in English

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

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

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

Gene surfing is a process in population expansion whereby certain variations become prominent and dominant in a short time, appearing to skip the slow, steady, uniform accumulation of variegation and diversification. According to a study of the population structure and genealogies of Saguenay Lac-Saint-Jean in Quebec, this type of drastic change accompanied the immigrant wave front that spread over the area in the 17th century. "Deep Human Genealogies Reveal a Selective Advantage to Be on an Expanding Wave Front" in Science magazine describes the resulting demographics.

Abstract
Since their origin, human populations have colonized the whole planet, but the demographic processes governing range expansions are mostly unknown. We analyzed the genealogy of more than one million individuals resulting from a range expansion in Quebec between 1686 and 1960 and reconstructed the spatial dynamics of the expansion. We find that a majority of the present Saguenay Lac-Saint-Jean population can be traced back to ancestors having lived directly on or close to the wave front. Ancestors located on the front contributed significantly more to the current gene pool than those from the range core, likely due to a 20% larger effective fertility of women on the wave front. This fitness component is heritable on the wave front and not in the core, implying that this life-history trait evolves during range expansions.

So gene surfing in an expanding colonization phase can produce a genetic revolution whose effects will be felt for hundreds or thousands of years downstream in history.

We wonder if the same wave front demographics might explain some of the following population phenomena:

• Large scale triumph of Norman male lineages following the conquest of England in 1066.
• Selective expansion of Middle Eastern genes in Tennessee (including Cherokee families, Jewish male and female lines and Melungeons)
• Relatedness among Jews and "Jewish diseases"
• Diversity-within-uniformity of Polynesians
• Population replacement of Old European (U, N) by Middle Eastern genes (T, J)  in Europe as a result of the Neolithic Agricultural Revolution

Many students of history are puzzled why old populations have the allele frequencies and heterozygosity clines they have. Genetic drift is only part of the answer. Gene surfing and selection in deep history are the rest of it.

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

First the abstract:

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

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

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

First sentence:

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

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

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

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

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

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

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

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

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

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

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



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

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

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

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

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

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

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

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

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

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

We just returned from a long trip through Italy and were struck by Italians' apparent immunity to all the forces of aging that besiege Americans and other members of the First World. "Italian men," said Paolo, our driver, "smoke, drink, womanize and curse all day and live to a hundred." Maybe the answers why are in this new report on Italian longevity.

The genetic component of human longevity: analysis of the survival advantage of parents and siblings of Italian nonagenarians

Alberto Montesanto¹, Valeria Latorre¹, Marco Giordano¹, Cinzia Martino¹, Filippo Domma² and Giuseppe Passarino¹

Abstract

Many epidemiological studies have shown that parents, siblings and offspring of long-lived subjects have a significant survival advantage when compared with the general population. However, how much of this reported advantage is due to common genetic factors or to a shared environment remains to be resolved.

We reconstructed 202 families of nonagenarians from a population of southern Italy. To estimate the familiarity of human longevity, we compared survival data of parents and siblings of long-lived subjects to that of appropriate Italian birth cohorts. Then, to estimate the genetic component of longevity while minimizing the variability due to environment factors, we compared the survival functions of nonagenarians' siblings with those of their spouses (intrafamily control group).

We found that both parents and siblings of the probands had a significant survival advantage over their Italian birth cohort counterparts. On the other hand, although a substantial survival advantage was observed in male siblings of probands with respect to the male intrafamily control group, female siblings did not show a similar advantage. In addition, we observed that the presence of a male nonagenarians in a family significantly decreased the instant mortality rate throughout lifetime for all the siblings; in the case of a female nonagenarians such an advantage persisted only for her male siblings.

The methodological approach used here allowed us to distinguish the effects of environmental and genetic factors on human longevity. Our results suggest that genetic factors in males have a higher impact than in females on attaining longevity.

According to a professor of immunology and microbiology at Stanford University, humans were able to survive, spread and expand their populations once they left Africa because of immunities to disease they acquired from Neanderthals and Denisovans, who had lived in Europe and Asia already for hundreds of thousands of years.

A review of the new research appears in the online science magazine Discover under the date of June 20, 2011. The professor's name is Peter Parham.

Crux of the matter, according to Royal Society report

• Parham began by taking a close look at a family of genes called  human leukocyte antigens (HLAs), which play a central role in our body’s immune responses. We are able to react to a wide array of diseases because our HLA genes are highly variable, each containing dozens of  alleles (forms of genes).
• Our ancestors in Africa, however, would have had a small number of HLA alleles because they likely traveled in small bands and had little contact with other groups. Moreover, their HLAs would have only protected them against African diseases.
• When Parham compared the HLAs of modern humans with those of Neanderthals and Denisovans, he noticed some overlaps. In particular, he found that HLA-C*0702, an allele common in Europeans and Asians but nonexistent in Africans, was also present in the Neanderthal genome. Similarly, HLA-A*11, which is found in modern Asians but not in Africans, popped up in Denisovan DNA.
• Overall, about 50 percent of HLA Class I alleles in Europeans seemed to come from Neanderthals, 70 to 80 percent in East Asians from Denisovans, and 90 to 95 percent in Papuans from Denisovans, Parham said at a recent Royal Society meeting.

The latest revelation about the true nature of Neanderthals shows how fast current scientific and popular thinking is moving on the subject. Two years ago it was still debated whether "humans" could interbreed with Neanderthals, or whether Neanderthals were even a human species. Denisovans were only discovered in the last year.

DNA Consultants introduced its Neanderthal Index, a measure of affinity with archaic populations of Europe and the Middle East, one year ago this month.

Dr. Donald Yates says he is planning a visit to Vindija cave near Varazdin in Croatia this month to see firsthand the world's most important site for the discovery of Neanderthal bones and lifeways, dating to about 30,000 years ago.

Human history changed drastically with the 1974 Neanderthal discoveries at Vindija Cave. Photo Tomislav Kranjcic.

As Revealed by Autosomal Markers

No scientific work, to our knowledge, has ever hazarded a guess on what the mutation rate for autosomal CODIS-type markers might be. Is it like mitochondrial DNA, which has a molecular clock measured in the thousands or tens of thousands of years, or is it like STRs on the Y chromosome, with its much shorter timeframe? The question is important if you are trying to extrapolate the history of the human race from today's autosomal population statistics.

From what we can see, putting on diachronistic lenses, the mutation rates for the DYS values on what are commonly called CODIS markers or the DNA profile for individuals are very small. The values appear to have been set from the beginning of mankind and to have mutated little in the past 100,000 years.

If this is true -- and it cannot be a very big "if" or we would have more diversity between populations than what is known -- the oldest markers are Sub-Saharan African and the newest European. Statistical divides bear out this reading of the human genetic record, as shown now in our updated map included with the DNA Fingerprint Plus.

We will try to make some notes on the individual markers in future posts.

Over a year ago, there appeared one of the few studies of autosomal DNA in Ireland and Britain. If you have English/Welsh, Irish, northern Irish, Highlands Scottish, Lowlands Scottish or Swedish matches, you will want to read this post. Here is the original article and abstract.

Population structure and genome-wide patterns of variation in Ireland and Britain.

Did Neandertals Linger in Russia's Far North?

By Michael Balter

Science 13 May 2011:
Vol. 332 no. 6031 p. 778
DOI: 10.1126/science.332.6031.778

For more than 150,000 years, Neandertals had Europe's lush river valleys to themselves. Then, beginning about 40,000 years ago, modern humans swept in from Africa and the Near East, spreading rapidly from east to west. Soon, the archaeological evidence suggests, the Neandertals retreated to “refugia” in southern Europe, such as Spain and Portugal—their last holdouts before going extinct.

Or were they? On page 841, a research team claims that some of the last Neandertals may have taken refuge in the dark Arctic north rather than the sunny south. At the 32,000-year-old site of Byzovaya in Russia's Polar Ural Mountains, which at 65 degrees latitude is as far north as Iceland, archaeologists found stone tools they argue are typical of those long associated with Neandertals in Europe...

Read abstract.

Note: This may explain why Finno-Uralic is one of the strong contributors to a high score on our Neanderthal Index.

Byzovaya Cave in Russia's Polar Ural Mountains with Neanderthal artifacts.