Europe in the Year 3000 BCE

The archeogenetics of Europe and transition from hunter-gatherers to Neolithic agricultural societies made a quantum leap forward with the publication of an article investigating haplogroup H, the type carried by about half of Europeans today. But you may have trouble accessing the research in the new journal Nature Communications. I haven't found one ordinary mortal who has actually read the article, because few libraries and hardly any individuals can afford the crushingly expensive subscription to Nature Communications. 

So here is an abstract. 

The question of ancestry has been of human concern in virtually all cultures and over all times of which we have any knowledge. Whether it be a story about the origin of a particular tribe or nation and its subsequent mixture with other groups, or curiosity about a family history, there is always the implication that we understand ourselves better if we know our ancestors and that we, within ourselves, reflect properties that have come to us by an unbroken line from past generations. As treasurer of the Marlboro Historical Society in Vermont, I am the recipient of requests for printed copies of the Reverend Ephraim Newton’s mid-eighteenth-century history of our town, 70 percent of whose pages consist of “Genealogical and Biographical Notes” and a “Catalog of Literary Men.” Over and over our correspondents write of the “pride” they have in descending from these early settlers.

Surely pride or shame are appropriate sentiments for actions for which we ourselves are in some way responsible. Why, then, do we feel pride (or shame) for the actions of others over whom we can have had no influence? Do we, in this way, achieve a false modesty or relieve ourselves of the burdens of our own behavior? As a descendant of late-nineteenth-century Eastern European immigrants I cannot depend on Reverend Newton’s pages to explain my frequent contributions to The New York Review, but neither have the extensive “begats” in Genesis 10 or Matthew 1 been more enlightening.  Read More...

Were Neanderthals capable of creating art? The idea seems shocking to us. After all, we learned in school that these were brutish savages without higher thinking and symbolic thought or expression. The picture of a Neanderthal making hand prints in Spanish caves or making shell necklaces is odd indeed because art is largely “considered evidence of sophisticated symbolic thinking, [and] has traditionally been attributed to modern humans, who reached Europe some 40,000 years ago” according to the recent Wired Science article, “First Painters May Have Been Neanderthal Not Human.” (Left:  Panel of Hands in the El Castillo Cave, Spain, dated to 37,300 years old, photo by Pedro Saura.)

A recent Daily News and Analysis article, “Neanderthals Learned to Make Jewelry and Tools from Modern Humans, “ says an international team from the Max Planck Institute in Germany suggests there was a “cultural exchange” between the two species and there is evidence that Neanderthals “learned how to make jewelry and sophisticated tools” from the early ancestors of humans. The reasoning behind this is based on the fact that artistic relics were found near Neanderthal remains but the artwork was “clearly” indicative of human hands. So the conjecture is that it must have been learned.

Whether this is true or not, Neanderthals were creative.  According to Kate Wong, in her recent Scientific American article, “Oldest Cave Paintings May Be Creations of Neanderthals , Not Modern Humans,” according to archeological evidence, Neanderthals  not only wore feathers but “painted their skin” and “made jewelry from teeth and shells.”

 
But was their artistic expression learned? There are those that do not think so. According to Eric Wayner, in a recent Smithsonian article, “Do Feathers Reveal Neanderthal Brain Power?” Neanderthals wore feathers as personal adornments which showed them to be “capable of symbolic expression.”  And Wong says, there are Spanish and French caves thousands of years old with cave paintings long thought to be the artwork of early humans that are now thought to be the work of Neanderthals. Why? She says because of recently refined techniques of radiocarbon dating, that these paintings are “significantly older” than once thought. In fact, some may be older than the date when the first humans arrived in Europe around 41,500 years ago. When there were thought to be only Neanderthals.  “A large red disk” on one of the Spanish caves, El Castillo, is “at a minimum 40,800 years old, making it some 4,000 years older than the Chauvet paintings which were previously thought to be the oldest in the world.”  This and a “stretch of limestone wall with dozens of hands” in the same cave are both thought to possibly be the handiwork of Neanderthal painters because the “estimates” are considered to be at best a conservative “minimum.” According to Ker Than, in the recent National Geographic Daily News article, “The new dates raise the possibility that some of the paintings could have been made by Neanderthals who are thought to have lived in Europe some 30,000 or 40,000 years ago.” 

So if Neanderthals were painters where did they get their creative expression if not from humans? Wong says that both “modern humans and Neanderthals might have inherited their capacity for symbolic thinking from their common ancestor.”  And she says, if that is the case, “the roots of our symbolic culture go back half a million years.”

Authentic sequences from the ancient human past are a rarity in the world of DNA testing. But when a team of archeologists put the mummies of King Tut and his immediate family on the operating table in 2010, they were successful in deriving almost complete DNA profiles for the boy king and others in the Amarna dynasty that ruled Egypt more than three thousand years ago. Now three of the DNA signatures of Egyptian pharoahs from that famous forensic study by Zahi Hawass and the Supreme Council of Antiquities in Cairo--plus others newly discovered--are available as part of a commercial direct-to-the-consumer autosomal DNA testing panel.

In October 2012, DNA Consultants launched its Rare Genes from History Report. Based on a customer's DNA fingerprint or autosomal profile, the additional analysis sells for $289. It compares your laboratory results with 26 rare alleles or ancestry markers whose trail has been traced through world history and evolving population changes by the company's statisticians. 

Take the Thuya Gene, for instance. Like most of the other Rare Genes from History, it has an African origin in deep time. But it experienced its greatest expansion in ancient Egypt, where it was carried by the queens of Upper and Lower Egypt and High Priestesses of the temples. It was reported in the profile of Queen Thuya's mummy, and we can see that she passed it to her children, grandchildren and descendants. King Tut was a great-grandson and has it, according to the new forensic evidence.

Today, as many as one-fourth of all people on earth would test positive for the Thuya Gene. It is twice as common in Somalia as outside Africa and is found in 40% of Muslim Egyptians.

That's not so rare after all, but unsurprising. Egyptian civilization lasted for three thousand years and sowed the seed of its peoples and ideas throughout the world. We can imagine that Autosomal Thuya started out in East Africa about 100,000 years ago, and that her descendants were prominent in the first out-of-Africa group as well as in the Middle Easterners who helped spread agriculture, animal husbandry, religion and settled town life to Europe. 

The spirit of Thuya lives on in 27% of Jews who have been tested in academic studies. Extrapolating to world population figures, that's nearly 400,000 people, about evenly divided between the United States and Israel.

See also "Prelaunch of New Autosomal Products" (August 26, 2012)
"Rare Genes from History" (webpage)
"Rare Genes from History Panel Now Available for $289.00"

The classic DNA study by the Supreme Council of Antiquities in Cairo, Egypt is: Hawass Z, Gad YZ, Ismail S, et al. Ancestry and Pathology in King Tutankhamun's Family. JAMA. 2010;303(7):638-647. The feat by scientists has also been featured on Discovery Channel. 

PRESS RELEASE
Rare Genes from History:  DNA Consultants’ Next-Generation Ancestry Markers

PHOENIX -- (Oct. 1, 2012) -- DNA typing has gone from successes in the criminal justice system and paternity testing to new heights in mapping genetic diseases and tracing human history. John Butler in the conclusion to his textbook Fundamentals of Forensic DNA Typing raised an important question about these trends. How might genetic genealogy information intersect with forensic DNA testing in the future?

"At DNA Consultants, that new chapter in DNA testing arrived several years ago," said Donald Yates, chief research officer and founder. "As we approach our tenth anniversary, examining human population diversity continues to be the whole thrust of our research, and it just gets more and more exciting."

The company's DNA database atDNA 4.0 captures and puts to use every single published academic study on forensic STR markers, the standard CoDIS markers used in DNA profiles for paternity and personal identification. In 2009, the company introduced the first broad-scale ethnicity markers and created the DNA Fingerprint Plus.

But its innovations didn’t stop there. In October 2012, the company announced the launch of its Rare Genes from History Panel.

Why CoDIS Markers?

“Theoretically,” noted Butler in 2009, “all of the alleles (variations) that exist today for a particular STR locus have resulted from only a few ‘founder’ individuals by slowly changing over tens of thousands of years.”

How true! Hospital studies have determined that the most stable loci (marker addresses on your chromosomes) have values that mutate at a rate of only 0.01%. That means the chance of the value at that location changing from parent to progeny is once every 10,000 generations.

So the autosomal clock of human history ticks at an even slower quantum rate than mitochondrial DNA. Like “mitochondrial Eve,” its patterns were set down in Africa over 100,000 years ago when anatomically modern humans first appeared on the stage of time.

Though the face value of the cards in the deck of human diversity never changed—and all alleles can be traced back to an African origin—as humans left Africa and eventually spread throughout the world, alleles were shuffled and reshuffled. Humanity went through bottlenecks and expansions that emphasized certain alleles over others. Genetic pooling, drift and selection of mates produced regional and country-specific contours much like a geographic map. 

By the twentieth century, when scientists began to assemble the first genetic snapshots of people, it was found that nearly all populations were mixed, some more than others. The geneticist Luigi-Luca Cavalli-Sforza at Stanford University proved that there is almost always more diversity within a population than between populations.

So if there is no such thing as a “pure” population—a control or standard—how are we to make sense of any single individual’s ancestral lines? Statistical analysis provides the answer. And rare genes are easier to trace in the genetic record than common ones. Their distinctive signature stands out.

Back Story:  It All Began with the Melungeons

About the same time as DNA Consultants' scientists were cracking the mystery of the Melungeons, a tri-racial isolate in the Appalachians, they became aware of certain very rare alleles carried by this unusual population in relatively large doses. The Starnes family, for instance, in Harriman, Tennessee, was observed to have a certain rare score repeated on one location in the profiles of members through three generations. The staff dubbed it “the Starnes gene.”

Soon, company research had characterized 26 rare autosomal ancestry markers—tiny, distinctive threads of inheritance that reflected an origin in Africa and expansion and travels through world history. Genes in this new generation of discoveries were named after some distinctive feature associated with the pattern they created in human genetic history--for instance, the Kilimanjaro Gene after its source in Central East Africa. The Thuya, Akhenaten and King Tut genes were named for the royal family of Egypt whose mummies were investigated by Zahi Hawass’ team in 2010.

The Starnes Gene” became the Helen Gene. Because of its apparent center in Troy in ancient Asia Minor and predilection for settling in island populations, it was named for "the face that launched a thousand ships," in the famous phrase by Christopher Marlowe.  

All 26 of DNA Consultants' new markers are rare. Not everyone is going to have one. But that’s what makes them interesting, according to Dr. Yates.

Coming from all sections of human diversity—African, Indian, Asian and Native American—they are like tiny gold filaments in a huge, outspread multi-colored tapestry, explains Phyllis Starnes, assistant principal investigator and wife of the namesake of the first discovery. But does that mean that her husband has a connection to Helen of Troy? The markers don’t work on such a literal level, but it does imply that Billy Starnes shares a part of his ancestral heritage with an ancient Greek/Turkish population prominent on the page of history.

Over the past two decades, geneticists have worked out the macro-history and chronology of human migrations in amazing detail and agreement. The Rare Genes from History Panel is another reminder--in the words of an American Indian ceremonial greeting--that “We Are All Related.”

These rare but robust signals of deep history can act as powerful ancestral probes into the tangled past of the human race as well as unique touchstones for the surprising stories of individuals.

For more information about the science of autosomal DNA ancestry testing, visit DNA Consultants or check out its Twitter or Facebook page. 

 
A new Cambridge University study claims that the 1-4% Neanderthal DNA in the average European is not the result of admixture or hybridization, as widely believed when the Neanderthal sequences were discovered in human DNA, but the signature of a remote split in hominid species in early Africa. The study is headlined "Humans, Neanderthals Did Not Have Babies" in Discovery News. According to the new model, Neanderthals died out 30,000 years ago in Europe and never had the opportunity to produce hybrid progeny with anatomically modern humans (Homo sapiens sapiens). 

But the new model is just that, a model, and proves nothing, say many critics of the explanation. Statistical programs can be set up to "prove" anything. The new model just proves that it could be a scenario that might have occurred in the dim human past. Not all possible scenarios are true, and in fact, many possible scenarios are unlikely . . . and well, not possible except in a statistical sense.

Essentially, the Cambridge study uses a conclusion to prove a hypothesis. It's supposed to work the other way around. And we thought Cambridge was the home of logicians!

Also, why are there no Neanderthals in Africa?

See our post "Most Humans Part Neanderthal"

Serbs, Croats “have most similar DNA”

SKOPJE -- A six-year long DNA research of the Balkan peoples conducted by Skopje Forensics Medicine Institute has showed remarkable resemblance among them.

The Macedonian scientists received samples and data from most of the Balkan countries, except from Greece, who refused to take part in the project. All the other countries sent DNA analyses of the victims who had died in their territory to Skopje.

“By using sophisticated computer technology we have compared the data from Macedonia, Serbia, Bosnia, Bulgaria, Croatia and Kosovo,” Jakovski explained.

The research has been published in the leading world forensics magazines and the results will be used in criminal investigations in cases when victims are from the Balkans.

Jakovski pointed out that the research represented a very useful scientific work and that it had nothing to do with daily politics.


Photo:  A Serb. 

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.

More information about Melungeons
Toward a Genetic Profile of Melungeons in Southern Appalachia
Melungeon Studies
Melungeon Match

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.

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.