DNA Consultants Home of the DNA Fingerprint

Recent genetic studies have tended to throw cold water on the size and decimation of American Indian populations on European contact after 1492. A new study shows the falsehood of this thinking, and perhaps we are back to using the word "conquest" instead of the euphemistic term "contact." The conqueror of the Americas was not Europeans, though, but the diseases they unleashed on Indians.

According to Science magazine, "a study published this week in the Proceedings of the National Academy of Sciences pushes the pendulum back toward dramatic population declines. Using both modern and ancient mitochondrial DNA (mtDNA) from Native Americans, an international team concludes that about 500 years ago, the number of reproductively active Native American women quickly plunged by half, indicating a 'widespread and severe' contraction in population size."

The study summarized is:  Brendan O'Fallon and Lars Fehren-Schmitz, "Native Americans Experienced a Strong Population Bottleneck Coincident with European Contact," Proceedings of the National Academy of Science (Dec. 5, 2011);  doi:  10.1073/pnas.1112563108.

Critics of the study say that the conclusions may be illusory since we do not have a lot of ancient Native American DNA. But we will never have a lot of Native American DNA. That objection seems lame, and we applaud the new study as at least a step in the right direction of rectifying the true story of the Americas and escaping the apologist blinkers of colonial "Smithsonian-styled" methodologies and mindsets.

 

Geneticists seized the opportunity provided by an international Basque cultural event held in Idaho in 2010 to sample volunteers and study Basque DNA. The result was two studies, including "The Y-STR Genetic Diversity of an Idaho Basque population, published in Human Biology.

It was the first DNA study to document the spread of the Basque male chromosome overseas. The Basque people were renowned seafarers.

"The idea is to better understand health risks for Basque people, including an increased incidence of both Alzheimer's and Parkinson's diseases," said Josu Zubizarreta, a Boise State graduate who conducted research with the lead author, Greg Hampikian.

Mitochondrial DNA, which reflects a deeper history, was also studied.

Basques are credited with the invention of the rudder. They provided the crew and navigators for Magellan. Basque names are common on antique maps. The Bay of Biscayne is named for them, and many harbors, points and landfalls on the Atlantic Coast of North America are thought to come from the Basque language, which is known as an isolate and is unrelated to other European languages.

Sculpture of Basque sailor, Victorio Macho, Toledo. Travelpod.

Citation
Zubizarreta, Josu; Davis, Michael C.; and Hampikian, Greg (2011) "The Y-STR genetic diversity of an Idaho Basque population, with comparison to European Basques and US Caucasians," Human Biology: Vol. 83: Iss. 6, Article 2.
Available at: http://digitalcommons.wayne.edu/humbiol/vol83/iss6/2

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.

A Missing Link from Kent's Cavern in Devonshire

A prehistoric maxilla (upper jawbone) fragment was discovered in the cavern during a 1927 excavation by the Torquay Natural History Society, and named Kents Cavern 4. The specimen is on display at the Torquay Museum.

Although previous radiocarbon dating suggested the bone was about 35,000 years old, a new study in Nature redates it securely to 44.2-41.5 kyr. The article by Tom Higham et al., "The Earliest Evidence for Anatomically Modern Humans in Northwestern Europe," also claims that on the basis of dental comparisons it is "human" rather than "Neanderthal."

The Kent's Cavern fragment "therefore represents the oldest known anatomically modern human fossil in northwestern Europe, fills a key gap between the earliest dated Aurignacian remains and the earliest human skeletal remains, and demonstrates the wide and rapid dispersal of early modern humans across Europe more than 40 kyr ago."

A related article in the same issue of Nature is "Early Dispersal of Modern Humans in Europe and Implications for Neanderthal Behavior," by Stefano Benazzi et al. It attempts to place the so-called Cavallo fossil from southern Italy in a timeframe of about 44,000 years ago, thus suggesting a "rapid dispersal of modern humans across the continent before the Aurignacian and the disappearance of Neanderthals."

Neither study considers that the evidence they are examining may be the result of hybridization between "humans" and "Neanderthals." Like most geneticists the authors have rigid categories and do not consider that our definitions of species and sub-species and transitions in technocomplexes and traits are in flux as new discoveries are made.

One man's Mede may be another man's Persian, and we note that the "fossil race" is not devoid of scientific jingoism pitting one country's news-making finds against another's. So far England seems to be winning.

However, the British still have to live down Piltdown Man, a fraud of biblical proportions that fooled the world for almost half a century until the 1950s. The Piltdown hoax is perhaps the most famous paleontological hoax ever. It has been prominent for two reasons: the attention paid to the issue of human evolution, and the length of time that elapsed from its discovery to its full exposure as a forgery combining the lower jawbone of an orangutan with the skull of a fully developed modern human.

The editors sum up the two new studies by writing, "The reanalysis of findings from two archaeological sites calls for a reassessment of when modern humans settled in Europe, and of Neanderthal cultural achievements." We wish that the paleontological community would think more out of the box and reassess how, when and where "humans" and "Neanderthals" interbred. 


Location of Kent's Caverns in Devon.

At a time when it seemed that American science had bitten off more than it could chew with the Human Genome Project, Craig Venter and his innovative company published "A New Strategy for Genome Sequencing." Appearing in the journal Nature in 1996, the Venter multi-center approach bypassed laborious gene mapping and allowed the HGP to meet its goal of full sequence information on the human genome in 2000.

"In the race to sequence the human genome," write the editors of Nature's DNA Technologies Milestones, "research groups had to choose between the random whole genome shotgun sequencing approach or the more ordered map-based sequencing approach." The choice of randomness versus order was present from 1982, but the Venter strategy was resisted for many years. Finally, in 1996 it was accepted and given an equal emphasis with the more orthodox approach.

After a standoff between the two groups of scientists, "a showdown ensued, with the biotechnology firm Celera Genomics wielding whole-genome shotgun sequencing and the International Human Genome Sequencing Consortium wielding map-based sequencing. Yet when the dust settled, it was a draw -- both groups published their initial drafts of the human genome concurrently in 2001."

The maverick technology helped make high throughput genomic sequencing at commercial labs an economy reality and gave birth to a range of new DNA tests within the reach of ordinary consumers like you and me. Today, fifteen years later, those interested in autosomal ancestry testing and personal genomics have biologist and entrepreneur Craig Venter and his irascible persistence as a scientific pioneer to thank.

A mental foramen is a small hole in the mandible whose purpose is to allow passage of nerves and vessels to the brain and probably also to relieve tension during chewing and gnawing. It has been identified as a sign of archaic humans, including Neanderthals. Do you have one?

I asked my dentist to look at my X rays on file and he confirmed I have a mental foramen. He has often told me I have "powerful" jaws. It is unclear whether there are normally two of them and what their typical positions are.

In a previous blog post, "Neanderthals in America," we discussed mental foramina (the plural of foramen), occipital bulges or bumps and other archaic skeletal traits. Melungeons seem to have many of these ancestral marks.

Do you? You might want to check with your dentist.

Studies show that Europeans have, on average, between 1 and 4 percent Neanderthal genes from an early out-of-Africa interbreeding period in the Middle East. Science has not decided to consider Neanderthals a separate species or sub-species in relation to H. sapiens sapiens (humans).

DNA Consultants offers an estimate of Neanderthal ancestry based on matches with other archaic humans called Neanderthal Index.

Line drawing of Neanderthal male ©DNA Consultants.

A Greek goddess statue in the style of the Elgin Marbles was repatriated by a Los Angeles museum, marking the return of a valuable, but stolen piece of antiquity from the United States to Italy. Known as the Morgantina Aphrodite or Venus, the 7-foot tall marble is now displayed in a 17th century former Capuchin monastery in the tiny town of Aidone in central Sicily.

The plaque on the statue does not identity the goddess as Venus but reads,

The statue of a female deity from Morgantina, excavated clandestinely [i.e. looted by vandals] and exported illegally [i.e. purchased at an art auction without proper papers], was repatriated in 2011 by the J. Paul Getty Museum of Malibu.

Behind the terse wording  is a thirty-year tale of intrigue that shook the American art world, involving local looters in a Fiat carrot truck, possibly Mafia connections, the black market in Chiusso, Switzerland, the Italian government's persistent efforts to recover stolen antiquities and one woman at the center of it all, the Getty's former curator Marion True. Read about it in this month's cover story in Smithsonian Magazine, "Journey of a Goddess. A Case Study," by Ralph Frammolino.

Above:  Donald Yates at a similar statue of the goddess in recent travels to Turkey. Free download of his On the Trail of Europa. This and other titles available in DNA Consultants Online Bookstore.

Yes, Virginia, there is a Neanderthal fossil record in America. And apparently a Neanderthal hybrid fossil record.

No genetics publication has put all the evidence together: the genetics establishment is still in denial about most things Neanderthal. The evidence is scattered and mostly unrecognized, but, in our opinion, conclusive and compulsive. Consider the following article:

Frank L'Engle Williams and Gail E. Krovitz, "Ontogenetic Migration of the Mental Foramen in Neanderthals and Modern Humans," Journal of Human Evolution 47/4 (Oct. 2004) 190-219. 

The mental foramen (literally "mind's little hole") is an anatomical trait very pronounced in Neanderthals, a small dimple in the lower jaw of the skull beneath the teeth, or mandible. It is found sporadically in humans, where it is classified as archaic. Among the places where it has been identified are the Oleniy Islands and Baltic region, Northwestern Russia in Cro-Magnon like Europoid and Mongoloid types, along with "large and massive" torus occipitalis or Anatolian bumps (Alexander Mongait, 1959; Marija Gimbutas, 1956); Bakhehisarai in the Crimea (Alexander Mongait, 1959); the Joman or Ainu of Japan (Carleton Stevens Coon, 1962); and the "race of giants" continually being unearthed in West Coast, Ohio Valley and New England archeological sites, caves and mounds.

Archaic giant skeletons with mental foramina, occipital bumps, double rows of teeth and other Neanderthal features are reported, in fact, all over the Americas. Fritz Zimmerman has gathered a lot of the evidence in a new book titled Nephilim Chronicles, of which a small excerpt was published in Ancient American magazine, issue 91, pp. 24-27. Here is one of the newspaper reports he cites:

Evening News (Ada, Oklahoma), November 8, 1912. PRIMITIVE MEN OF GIGANTIC STATURE.

Eleven skeletons of primitive men, with foreheads sloping directly back from the eyes and two rows of teeth in the front of the upper jaw, have been uncovered at Craigshill at Ellensburg, Washington. They were found about twenty feet below the surface, twenty feet back from the face of the slope, in a cement rock formation over which was a layer of shale. The rock was perfectly dry. The jawbones, which easily break, are so large that they will go around the face of a man today. The other bones are also much larger than those of the ordinary man. The femur is twenty inches long, indicating a man of eighty inches tall [6' 8"]. The teeth in front are worn almost down to the jawbones, due, it is believed, to eating uncooked foods and crushing substances with the teeth. The sloping skull shows an extreme low order of intelligence.

We note that the female mummy clutching a child known as The Thing on display at a roadside attraction on Interstate 10 north of Tombstone, Arizona, has a double row of teeth. It supposedly was one of three skeletons sold to the operator of the original site for $50 by a Chinese gentleman passing through. The Thing is discussed in several works by David Hatcher Childress. (My son and I paid our two bucks and saw it last Christmas on a road trip.)

Photo above:  Archaic skull from Oleniy Island studied by Marija Gimbutas among other archeologists, showing the position of the mental foramen, the result probably of Neanderthal interbreeding.

Photo below:  The Thing.

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.

Both the caves of Lascaux (Dordogne, France) and Altamira (Cantabria, Spain) are World Heritage Sites, but scientists are pushing that they remain closed to the public for a number of reasons. Read "Paleolithic Art in Peril" in this week's Science magazine.

In related news, INORA has announced an International Congress on Archaeology and Rock Art, La Paz, Bolivia, June 25-29, 2012. Many of the sessions will address the scientific study of rock art, as well as its management and conservation. Recent issues have brought to light important surveys and studies of rock art where most people are unaware it exists, including Mongolia, Morocco and the Amazon.

In 2010, the UNESCO list of World Heritage sites included 890 sites registered over its entire existence but only 36 of them are rock art sites.

The Altamira, Lascaux and other Paleolithic sites are of outstanding universal value for all humankind. Surely, there can be an accommodation between the scientists and the people so both interests can be satisfied.