"Despite the documented evidence of chess historian H.J.R. Murray, I have always thought that chess was invented by a goddess."
George Koltanowski, from Women in Chess, Players of the Modern Game
The genetic code of "an entire nation" has effectively been deduced, say researchers in Iceland.
The feat was performed by combining DNA data with family trees.
The team say they could now find every woman at high-risk of breast cancer "at the touch of a button" and it would be "criminal" not to use the information.
DNA is passed from one generation to the next. If you knew everything about the DNA of a child and their grandparents, you could figure out a lot about about the DNA of the parents too.
The deCODE genetics team has taken the whole genome sequence of 10,000 people and combined it with nation-wide family trees.
"By using these tricks we can predict, with substantial accuracy, the genome of the entire nation," the chief executive of deCODE, Dr Kari Stefansson told the BBC News website.
Medicine
Mutations in the BRCA genes lead to a much higher lifetime risk of cancer and led the Hollywood actress Angelina Jolie to have her breasts and ovaries removed. [Notice how they want to inform women that it may be best to mutilate yourself but there is no mention of mutilating men for the sake of preventative cancer treatment.]
Dr Stefansson argued: "We could, in Iceland, at the push of a button find all women who carry mutations in the BRCA2 gene.
"This risk could basically be nullified by preventative mastectomies and ovariectomies. It would be criminal not to take advantage of it and I am convinced that my fellow countrymen will begin to use it pretty soon."
The data is all anonymous at the moment. Using such data in medicine would raise ethical issues, including identifying deadly disease genes in people who never volunteered their own DNA for study.
Dr Stefansson says there is a lot of debate still to come "but I'm just an old-fashioned physician, my gut instinct is simply to go to these people and warn them".
He is already in discussions with the Icelandic healthcare system.
Elegant
The 100,000 genomes project in England and President Obama's Precision Medicine Initiative both aim to use such genetic information to revolutionise medicine.
Professor Mark Caulfield, the chief scientist at Genomics England, said the studies were "very interesting" and "very elegant".
He told the BBC: "The team in Iceland is to be congratulated as it has continued, over many years, to contribute to an understanding of the genetic information of disease by looking at the level of the population."
He said the progress being made around the world showed: "We are on the cusp on the application of transformative genomic medicine at scale"
However, he cautioned that there were many types of BRCA2 mutation and it was important to be certain they were relevant before informing women.
Common dad
The project made a series of other discoveries including a new gene linked to Alzheimer's disease.
The team has calculated a new estimate for the last common ancestor of all men by looking at the rate of mutation in the male Y-chromosome.
They believe the last common ancestor was 239,000 years ago - down from a previous estimate of 308,000 years ago.
They discovered that in Iceland that 8% of the population is missing all copies of a gene.
This could be harmful, beneficial or have no impact at all. The Icelandic group is starting a study to assess the health of these people.
Dr Susan Wallace, who worked with the Nuffield Council of Bioethics on a report on the use of biomedical data, said: "It sounds like a very exciting study and could bring health benefits to people.
"The concerns are that the data is going to be made public, anonymity technically promises protection, but you can be re-identified in datasets.
"There are also concerns of commercial interests in the use of these databases, so there are a lot of concerns that need to be addressed.
"There needs to be more engagement I think." [DUH!]
Jan. 21, 2013 — Ancient DNA has revealed that humans living some 40,000 years ago in the area near Beijing were likely related to many present-day Asians and Native Americans.
An international team of researchers including Svante Pääbo and Qiaomei Fu of the Max Planck Institute for Evolutionary Anthropology in Leipzig, Germany, sequenced nuclear and mitochondrial DNA that had been extracted from the leg of an early modern human from Tianyuan Cave near Beijing, China. Analyses of this individual's DNA showed that the Tianyuan human shared a common origin with the ancestors of many present-day Asians and Native Americans. In addition, the researchers found that the proportion of Neanderthal and Denisovan-DNA in this early modern human is not higher than in people living in this region nowadays.
Humans with morphology similar to present-day humans appear in the fossil record across Eurasia between 40,000 and 50,000 years ago. The genetic relationships between these early modern humans and present-day human populations had not yet been established. Qiaomei Fu, Matthias Meyer and colleagues of the Max Planck Institute for Evolutionary Anthropology in Leipzig, Germany, extracted nuclear and mitochondrial DNA from a 40,000 year old leg bone found in 2003 at the Tianyuan Cave site located outside Beijing. For their study the researchers were using new techniques that can identify ancient genetic material from an archaeological find even when large quantities of DNA from soil bacteria are present.
The researchers then reconstructed a genetic profile of the leg's owner. "This individual lived during an important evolutionary transition when early modern humans, who shared certain features with earlier forms such as Neanderthals, were replacing Neanderthals and Denisovans, who later became extinct," says Svante Pääbo of the Max Planck Institute for Evolutionary Anthropology, who led the study.
The genetic profile reveals that this early modern human was related to the ancestors of many present-day Asians and Native Americans but had already diverged genetically from the ancestors of present-day Europeans. In addition, the Tianyuan individual did not carry a larger proportion of Neanderthal or Denisovan DNA than present-day people in the region. "More analyses of additional early modern humans across Eurasia will further refine our understanding of when and how modern humans spread across Europe and Asia," says Svante Pääbo.
Parts of the work were carried out in a new laboratory jointly run by the Max Planck Society and the Chinese Academy of Sciences in Beijing.
Interesting, very interesting... Of course, scientists persist in their stereotyping use of the term "archaic" when speaking of certain humans. Really? This is like the white supremicist discovering he has black Africans in his ancestry. Oops. Yeah, there is a River Called De-Nile...
After decades of digging, paleoanthropologists looking for fossilized human bones have established a reasonably clear picture: Modern humans arose in Africa some 200,000 years ago and all archaic species of humans then disappeared, surviving only outside Africa, as did the Neanderthals in Europe. Geneticists studying DNA now say that, to the contrary, a previously unknown archaic species of human, a cousin of the Neanderthals, may have lingered in Africa until perhaps 25,000 years ago, coexisting with the modern humans and on occasion interbreeding with them.
The geneticists reached this conclusion, reported on Thursday in the journal Cell, after decoding the entire genome of three isolated hunter-gatherer peoples in Africa, hoping to cast light on the origins of modern human evolution. But the finding is regarded skeptically by some paleoanthropologists because of the absence in the fossil record of anything that would support the geneticists’ statistical calculations.
Two of the hunter-gatherers in the study, the Hadza and Sandawe of Tanzania, speak click languages and carry ancient DNA lineages that trace to the earliest branchings of the human family tree. The third group is that of the forest-dwelling pygmies of Cameroon, who also have ancient lineages and unusual blood types.
The geneticists, led by Joseph Lachance and Sarah A. Tishkoff of the University of Pennsylvania, decoded the entire genomes of five men from each of these groups. The costs of whole-genome sequencing have fallen so much that the technique can now be applied to populations for the first time, said Dr. Tishkoff, who paid the company Complete Genomics around $10,000 for each of the 15 genomes.
Among the DNA sequences special to pygmies, Dr. Tishkoff and colleagues found a variant of the usual gene that controls development of the pituitary gland, the source of the hormones that control reproduction and growth. This could be the cause of the pygmies’ short stature and early age of reproduction, the researchers say.
The genomes of the pygmies and the Hadza and Sandawe click-speakers contained many short stretches of DNA with highly unusual sequences. Through mutation, the genomes of species that once had a common ancestor grow increasingly unlike one another. Dr. Tishkoff’s team interprets these divergent DNA sequences as genetic remnants of an interbreeding with an archaic species of human. Genetic calculations suggest the interbreeding took place between 20,000 and 80,000 years ago.
From calculations of the amount of divergence in the DNA, the geneticists estimate that the archaic species split from the ancestors of modern humans about 1.2 million years ago, about the same time as did the ancestors of the Neanderthals, who dominated Europe during the end of the last ice age.
But the archaic species has a different DNA sequence from that of Neanderthals, whose genome has been reconstructed from DNA surviving in ancient bones, and so may be a sister species, the geneticists say.
Inquiries into human origins are on strong ground when genetic data and fossil evidence point in the same direction, but at present geneticists and paleoanthropologists have somewhat different stories to tell. All human fossil remains in Africa for the last 100,000 years, and probably the last 200,000 years, are of modern humans, providing no support for a coexistent archaic species. Another team of geneticists reported in 2010 the finding that Neanderthals had interbred 100,000 years ago with Europeans and Asians, but not Africans. This, too, conflicted with the fossil evidence in implying that modern humans left Africa 100,000 years ago, some 55,000 years before the earliest known fossil evidence of this exodus.
In a report still under review, a third group of geneticists says there are signs of Neanderthals having interbred with Asians and East Africans. But Neanderthals were a cold-adapted species that never reached East Africa.
These three claims of interbreeding have opened up a serious discordance between geneticists and paleoanthropologists. For digesting the geneticists’ claims, “sup with a long spoon,” advised Bernard Wood, a paleoanthropologist at George Washington University.
Richard Klein, a paleoanthropologist at Stanford University, said the new claim of archaic and modern human interbreeding “is a further example of the tendency for geneticists to ignore fossil and archaeological evidence, perhaps because they think it can always be molded to fit the genetics after the fact.”
Dr. Klein said the claims of interbreeding could be “a methodological artifact” in the statistical assumptions on which the geneticists’ calculations are based. The flaw may come to light when enough inconsistent claims are published. “Meanwhile, I think it’s important to regard such claims skeptically when they are so clearly at odds with the fossil and archaeological records,” he said.
Dr. Tishkoff said that she agreed on the need for caution in making statistical inferences, and that there are other events besides interbreeding, like a piece of DNA getting flipped around the wrong way, that can make a single DNA sequence look ancient. “But when you see it at a genomewide level, it’s harder to explain away,” she said.
A co-author, Joshua M. Akey of the University of Washington in Seattle, said he was “reasonably confident that what we are seeing in Africa does represent archaic introgression.” The archaic sequences make up only 2.5 percent of the genomes of the living hunter-gatherers, and there is no evidence that they are being favored by natural selection. They may, therefore, have no effect on a person’s physical form, which could explain why the fossils show little sign of them, Dr. Akey said.
Although all known African fossils are of modern humans, a 13,000-year-old skull from the Iwo Eleru site in Nigeria has certain primitive features. “This might have indicated interbreeding with archaics,” said Chris Stringer, a paleoanthropologist at the Natural History Museum in London. “For half of Africa we really have no fossil record to speak of, so I think it’s quite likely there were surviving archaic forms living alongside modern humans.”
Paleoanthropologists like Dr. Klein consider it “irresponsible” of the geneticists to publish genetic findings about human origins without even trying to show how they may fit in with the existing fossil and archaeological evidence. [Why assume they "fit" in? What if the existing assumptions about what the fossil record allegedly shows is WRONG?] Dr. Akey said he agreed that genetics can provide only part of the story. “But hopefully this is just a period when new discoveries are being made and there hasn’t been enough incubation time to synthesize all the disparities,” he said.
This is a fascinating story out of American history. I suspect that the truth revealed by the DNA testing has shaken more than a few families to their very core...
Please note the caption for this photograph:
Jack Goins poses with a photo dated to have been taken in 1898 of his step-great-great grandfather George Washington Goins, who died in 1817, left, and great-great grandmother, Susan Minor-Goins who died in 1813 at the Hawkins County Archives Project building Wednesday, May 23, 2012 in Rogersville, Tenn. Goins is of Melungeon descent and has researched Melungeon history for around 40 years.
Well, I guess those were ghosts who were photographed in 1898 :)
By TRAVIS LOLLER | Associated Press – Thu, May 24, 2012
NASHVILLE, Tenn. (AP) — For years, varied and sometimes wild claims have been made about the origins of a group of dark-skinned Appalachian residents once known derisively as the Melungeons. Some speculated they were descended from Portuguese explorers, or perhaps from Turkish slaves or Gypsies.
Now a new DNA study in the Journal of Genetic Genealogy attempts to separate truth from oral tradition and wishful thinking. The study found the truth to be somewhat less exotic: Genetic evidence shows that the families historically called Melungeons are the offspring of sub-Saharan African men and white women of northern or central European origin.
And that report, which was published in April in the peer-reviewed journal, doesn't sit comfortably with some people who claim Melungeon ancestry.
"There were a whole lot of people upset by this study," lead researcher Roberta Estes said. "They just knew they were Portuguese, or Native American."
Beginning in the early 1800s, or possibly before, the term Melungeon (meh-LUN'-jun) was applied as a slur to a group of about 40 families along the Tennessee-Virginia border. But it has since become a catch-all phrase for a number of groups of mysterious mixed-race ancestry.
In recent decades, interest in the origin of the Melungeons has risen dramatically with advances both in DNA research and in the advent of Internet resources that allow individuals to trace their ancestry without digging through dusty archives.
G. Reginald Daniel, a sociologist at the University of California-Santa Barbara who's spent more than 30 years examining multiracial people in the U.S. and wasn't part of this research, said the study is more evidence that race-mixing in the U.S. isn't a new phenomenon.
"All of us are multiracial," he said. "It is recapturing a more authentic U.S. history."
Estes and her fellow researchers theorize that the various Melungeon lines may have sprung from the unions of black and white indentured servants living in Virginia in the mid-1600s, before slavery.
They conclude that as laws were put in place to penalize the mixing of races, the various family groups could only intermarry with each other, even migrating together from Virginia through the Carolinas before settling primarily in the mountains of East Tennessee.
Claims of Portuguese ancestry likely were a ruse they used in order to remain free and retain other privileges that came with being considered white, according to the study's authors. The study quotes from an 1874 court case in Tennessee in which a Melungeon woman's inheritance was challenged. If Martha Simmerman were found to have African blood, she would lose the inheritance. Her attorney, Lewis Shepherd, argued successfully that the Simmerman's family was descended from ancient Phoenicians who eventually migrated to Portugal and then to North America.
Writing about his argument in a memoir published years later, Shepherd stated, "Our Southern high-bred people will never tolerate on equal terms any person who is even remotely tainted with negro blood, but they do not make the same objection to other brown or dark-skinned people, like the Spanish, the Cubans, the Italians, etc."
In another lawsuit in 1855, Jacob Perkins, who is described as "an East Tennessean of a Melungeon family," sued a man who had accused him of having "negro blood. In a note to his attorney, Perkins wrote why he felt the accusation was damaging. Writing in the era of slavery ahead of the Civil War, Perkins noted the racial discrimination of the age: "1st the words imply that we are liable to be indicted (equals) liable to be whipped (equals) liable to be fined ... "
Later generations came to believe some of the tales their ancestors wove out of necessity.
Jack Goins, who has researched Melungeon history for about 40 years and was the driving force behind the DNA study, said his distant relatives were listed as Portuguese on an 1880 census. Yet he was taken aback when he first had his DNA tested around 2000. Swabs taken from his cheeks collected the genetic material from saliva or skin cells and the sample was sent to a laboratory for identification.
"It surprised me so much when mine came up African that I had it done again," he said. "I had to have a second opinion. But it came back the same way. I had three done. They were all the same."
In order to conduct the larger DNA study, Goins and his fellow researchers — who are genealogists but not academics — had to define who was a Melungeon.
In recent years, it has become a catchall term for people of mixed-race ancestry and has been applied to about 200 communities in the eastern U.S. — from New York to Louisiana. Among them were the Montauks, the Mantinecocks, Van Guilders, the Clappers, the Shinnecocks and others in New York. Pennsylvania had the Pools; North Carolina the Lumbees, Waccamaws and Haliwas and South Carolina the Redbones, Buckheads, Yellowhammers, Creels and others. In Louisiana, which somewhat resembled a Latin American nation with its racial mixing, there were Creoles of the Cane River region and the Redbones of western Louisiana, among others.
The latest DNA study limited participants to those whose families were called Melungeon in the historical records of the 1800s and early 1900s in and around Tennessee's Hawkins and Hancock Counties, on the Virginia border some 200 miles northeast of Nashville.
The study does not rule out the possibility of other races or ethnicities forming part of the Melungeon heritage, but none were detected among the 69 male lines and 8 female lines that were tested. Also, the study did not look for later racial mixing that might have occurred, for instance with Native Americans.
Goins estimates there must be several thousand descendants of the historical Melungeons alive today, but the study only examined unbroken male and female lines.
The origin of the word Melungeon is unknown, but there is no doubt it was considered a slur by white residents in Appalachia who suspected the families of being mixed race.
"It's sometimes embarrassing to see the lengths your ancestors went to hide their African heritage, but look at the consequences" said Wayne Winkler, past president of the Melungeon Heritage Association. "They suffered anyway because of the suspicion."
The DNA study is ongoing as researchers continue to locate additional Melungeon descendants.
___
Associated Press Writer Cain Burdeau contributed to this story from New Orleans, La.
In the Solomon Islands, about 10 percent of the dark-skinned indigenous people have strikingly blond hair. Some islanders theorize that the coloring could be a result of excess sun exposure, or a diet rich in fish. [Aren't they all exposed more or less to the same level of sun exposure? And don't they all have more or less the same diet?] Another explanation is that the blondness was inherited from distant ancestors — European traders and explorers who came to the islands. [A possible and plausible explanation, but now, thanks to DNA, we know the truth of the matter.]
But that’s not the case, researchers now report. The gene variant responsible for blond hair in the islanders is distinctly different from the gene that causes blond hair in Europeans.
“For me it breaks down any kind of simple notions you might have about race,” said Carlos Bustamante, a geneticist at Stanford University. “Humans are beautifully diverse, and this is just the tip of the iceberg.”
Dr. Bustamante and his colleagues published their findings in the current issue of the journal Science. The researcher analyzed saliva samples from more than 1,000 islanders, looking closely at a subset of the samples — from 43 blond and 42 dark-haired islanders.
They were soon able to identify the single gene responsible for the variance in hair color. Called TYRP1, the gene is known to influence pigmentation in humans. The researchers also found that the variant of TYRP1 that causes blond hair in Solomon Islanders is entirely absent in the genomes of Europeans.
“Here you go into an unstudied population with a small sample size and you can really find some cool things,” Dr. Bustamante said. “So what about other places, like what about light pigmentation in parts of Africa? How do we not know the genetic basis of skin and hair pigmentations across the globe?”
He and his team hope to raise more money to further analyze the Solomon Islands data.
For decades, scientists thought that the Clovis hunters were the first to cross the Arctic to America. They were wrong — and now they need a better theory
Andrew Curry
The mastodon was old, its teeth worn to nubs. It was perfect prey for a band of hunters, wielding spears tipped with needle-sharp points made from bone. Sensing an easy target, they closed in for the kill.
Almost 14,000 years later, there is no way to tell how many hits it took to bring the beast to the ground near the coast of present-day Washington state. But at least one struck home, plunging through hide, fat and flesh to lodge in the mastodon's rib. The hunter who thrust the spear on that long-ago day didn't just bring down the mastodon; he also helped to kill off the reigning theory of how people got to the Americas.
For most of the past 50 years, archaeologists thought they knew how humans arrived in the New World. The story starts around the end of the last ice age, when sea levels were lower and big-game hunters living in eastern Siberia followed their prey across the Bering land bridge and into Alaska. As the ice caps in Canada receded and opened up a path southward, the colonists swept across the vast unpopulated continent. Archaeologists called these presumed pioneers the Clovis culture, after distinctive stone tools that were found at sites near Clovis, New Mexico, in the 1920s and 1930s.
As caches of Clovis tools were uncovered across North America over subsequent decades, nearly all archaeologists signed on to the idea that the Clovis people were the first Americans. Any evidence of humans in the New World before the Clovis time was dismissed, sometimes harshly. That was the case with the Washington-state mastodon kill, which was first described around 30 years ago1 but then largely ignored.
Intense criticism also rained down on competing theories of how people arrived, such as the idea that early Americans might have skirted the coastline in boats, avoiding the Bering land bridge entirely. “I was once warned not to write about coastal migration in my dissertation. My adviser said I would ruin my career,” says Jon Erlandson, an archaeologist at the University of Oregon in Eugene.
But findings over the past few years — and a re-examination of old ones, such as the mastodon rib — have shown conclusively that humans reached the Americas well before the Clovis people. That has sparked a surge of interest in the field, and opened it up to fresh ideas and approaches.
Geneticists and archaeologists are collaborating to piece together who came first, when they arrived, whether they travelled by boat or by foot and how they fanned out across the New World.
To test their ideas, some researchers are examining new archaeological sites and reopening old ones. Others are sifting through the DNA of modern people and unearthing the remains of those buried millennia ago in search of genetic clues. “There's a powerful meshing of the archaeology we're pulling out of the ground with genetic evidence,” says Michael Waters, a geographer at Texas A&M University in College Station.
Like those original Americans, researchers are exploring new frontiers, moving into fresh intellectual territory after a long period of stasis. “Clovis has been king for 50 years, and now we have to reimagine what the peopling of the New World looked like,” Erlandson says. “If it wasn't Clovis, what was it?
Overthrowing King Clovis
It took a chance finding halfway around the world to set this reappraisal in motion. In the late 1970s, Tom Dillehay, an archaeologist at Vanderbilt University in Nashville, Tennessee, uncovered the remains of a large campsite in southern Chile, close to the tip of South America (see 'Routes to a new world'). Radiocarbon dating of wood and other organic remains suggested that the site was around 14,600 years old, implying that humans made it from Alaska to Chile more than 1,000 years before the oldest known Clovis tools2. But because the remote site was so hard for most researchers to examine, it would take nearly 20 years for Dillehay to convince his collegues.
The case for pre-Clovis Americans has now gained more support, including from analyses of ancient DNA. One of the first bits of genetic evidence came from preserved faeces, or coprolites, that had been discovered in a cave in south-central Oregon by Dennis Jenkins, an archaeologist at the University of Oregon. Radiocarbon dating showed that the coprolites are between 14,300 and 14,000 years old, and DNA analysis confirmed that they are from humans3. The recovered DNA even shared genetic mutations with modern Native Americans.
Since the coprolite evidence emerged, in 2008, ancient DNA has also been used to reconstruct that long-ago mastodon hunt. Radiocarbon studies in the 1970s had suggested that the mastodon pre-dated the Clovis people, but some researchers explained that away by arguing that the animal had died in an accident. However, DNA studies last year4 showed that a fragment of bone embedded in the mastodon's rib had come from another mastodon — strong evidence that it was a spear point made by humans and not a shard that had chipped off a nearby bone in a fall.
The case against Clovis got another major boost last year, when an excavation in Texas unearthed stone tools that pre-dated Clovis-style artefacts by more than a millennium5. “We found a solid site with good context, good artefacts and solid dating,” says Waters.
This slow avalanche of findings has all but buried the Clovis model — the problem now is what to replace it with. The abundant Clovis artefacts and sites discovered over the past century have set a high bar. Telling the story of the first Americans means coming up with a plausible explanation and definitive evidence to support it — a combination that researchers are struggling to achieve.
One idea they are exploring is that a small group of big-game hunters made it into the Western Hemisphere over land — but significantly earlier than previously thought. Another, more popular, theory argues that humans used boats to navigate along the coast of Siberia and across to the Americas.
There is also a controversial variant of the coastal migration model, put forward by archaeologists Dennis Stanford at the Smithsonian Institution in Washington DC and Bruce Bradley at the University of Exeter, UK. Called the Solutrean hypothesis, it suggests that coastal migration from Asia could have been supplemented by parallel migrations across the Atlantic, bringing stone-tool technologies from present-day Spain and southern Europe to eastern North America.
DNA studies argue strongly against this hypothesis, and it gets little support from researchers. But some are hesitant to reject the idea outright, recognizing that the community was once before too conservative. “That's what happened with the Clovis paradigm,” says Dillehay.
To move the field forward, researchers are using as many types of data as possible. Some key clues have emerged from studies of population genetics, in which researchers tallied the number of differences between the genomes of modern Native Americans and those of people living in Asia today. They then used estimates of DNA mutation rates as a molecular clock to time how long the diversity took to develop. That provides an estimate for when people split from ancient Asian populations and migrated to the Americas.
Judging from the limited genetic diversity of modern Native Americans, Ripan Malhi, a geneticist at the University of Illinois at Urbana-Champaign, and others have argued that the founding population was small, perhaps just a few thousand hardy settlers. In a study of mitochondrial DNA from modern Native American and Asian populations, Malhi and his colleagues also found hints that the first American colonists paused on their way out of Asia6, waiting out the peak of the last ice age on the exposed Bering land bridge for perhaps 5,000 years — long enough to become genetically distinct from other Asian populations. When the glaciers blocking their path into North America began to melt around 16,500 years ago, the Beringians made their way south over land or sea, passing those genetic differences on to their descendants in America.
Other researchers say that there is a major problem with relying on population genetics to answer questions about the peopling of the Americas. At least 80% of the New World's population was wiped out by disease, conflict or starvation after Europeans first arrived some five centuries ago. And the genes of many Native Americans today carry European and African markers, which confounds efforts to piece together the migration story. “If we look pre-contact, we're going to find a lot more indigenous diversity,” says Malhi.
That means going back in time, by studying ancient genomes. “You're going to see a lot of ancient-DNA studies coming out, and that's going to tell a powerful story about the first Americans,” says Waters.
The chances of finding well-preserved bones from the first Americans are slim, but valuable information can be pulled from DNA samples that fall in between then and now, argues Eske Willerslev, who studies ancient DNA at the University of Copenhagen. Willerslev and his colleague Thomas Gilbert proved that point in 2010, when they extracted the first complete ancient-human genome from a 4,000-year-old hank of hair found in Greenland that had languished for decades in a museum storeroom in Copenhagen. The DNA helped to show that there had been multiple waves of migration into Greenland, and that modern Greenlanders arrived more recently7. Now, Willerslev's lab is trying to extract similar information about population movements from ancient-human remains from sites all over the Americas.
Joining forces
When paired with sequences from modern populations, ancient DNA can help to refine the calculations made by population geneticists and test the claims made by archaeologists. In 2008, Brian Kemp, now at Washington State University in Pullman, extracted mitochondrial DNA from a 10,300-year-old tooth found in On Your Knees Cave in Alaska. When he compared the DNA sequences with those from modern Native Americans, he found that the mutation rate was faster than previously thought8. The results, he says, effectively rule out the possibility that humans came to North America as early as 40,000 years ago — a date based on equivocal evidence from archaeological sites in the eastern United States. The finding also argues against the idea that people used boats before the thaw to go around the glaciers and come down the coast. Instead, the DNA evidence supports the consensus that people didn't migrate into the Americas — whether by boat or over land — until the end of the last glacial maximum, 16,500 years ago at most.
The DNA told researchers a few more things. The ancient man who died in that Alaskan cave had mitochondrial DNA most closely related to Native American groups living today along the west coast of North America. “Most of the people who descended from that type are still living near the coast,” Kemp says. So the first wave of migrants probably came down the coast and then spread east from there, developing tiny variations in their DNA as they went, Kemp says.
Dennis O'Rourke, a geneticist at the University of Utah in Salt Lake City, is using similar comparisons to fill in the map of ancient migrations in the New World. In the past ten years, dozens of similar studies have established a clear trend — comparisons of DNA from modern people with ancient DNA have shown that the geographic distribution of genetic groups in the Americas has been stable for millennia. “The patterns must have been established more than 4,000 years ago,” he says. That helps to constrain the timing of when people spread across the continent and when they stopped migrating, he says.
In Point Barrow, Alaska, O'Rourke recently began studying human remains from a cliff-top cemetery threatened by coastal erosion, where people have been buried for the past 1,000 years. By comparing the samples from ancient Alaskans to populations from Greenland, eastern Canada and elsewhere, O'Rourke hopes to learn more about the colonization of the Arctic, an environment similar to what the first Americans would have encountered towards the end of the last ice age.
O'Rourke's collaborators are also collecting DNA samples from Inupiat people in northern Alaska. By matching up the modern and ancient DNA sequences from that region, they hope to refine the genetic clock and improve estimates for when people arrived in the Americas. Similar work is going on at a cemetery on Prince Rupert Island off northern British Columbia, where local Tsimshian people are working with archaeologists to gather ancient and modern DNA evidence.
While geneticists open up intellectual frontiers, archaeologists are searching for ways to test the migration theories in the field. Direct evidence for coastal migration will be hard to come by, because a rise in the sea level since the end of the last ice age has flooded the ancient coastlines. But researchers are turning up indirect evidence in many locations. Last year, for example, Erlandson demonstrated that humans lived on California's Channel Islands as far back as 12,200 years ago9, which shows that they must have mastered the use of boats before that time.
And at the Monte Verde site in Chile, researchers have found evidence that the ancient occupants were fans of seafood10. “Monte Verde has ten different species of seaweed at the site,” Dillehay says. “Somebody was intimately familiar with seaweeds and the microhabitats where they could be found.” That lends support to the idea that the earliest Americans were seafarers, he says.
Dillehay's recent findings, which came 30 years after the first excavations at Monte Verde, show that previously studied sites can become potential gold mines, says Waters. Because so many sites were either dismissed or forgotten during the 'Clovis-first' era, Waters says that “the field can really be pushed forward by going back and taking a look at sites that were put up on a shelf”. He is already planning to reopen sites in Tennessee and Florida, where evidence of pre-Clovis mammoth hunting was uncovered in the 1980s and 1990s.
Geneticists and archaeologists agree that the death of the Clovis theory has injected the field with excitement and suspense. “There's a sense that there was something before Clovis,” says Jenkins, whose coprolite study shook the field four years ago. “But what it was and how it led to the patterns that we see in North and South America — that's a whole new ball game.”
I have a problem with the conclusions being drawn in the article from the DNA analyses being done with our current technology, coupled with our built-in prejudices and preconceived ideas -- cultural, political, and academic. We do, indeed, live in interesting times. The DNA evidence mentioned in this article does not support carbon-dated bones of a mammoth, for instance, that was slaughtered out east some 40,000 years ago (was it in Tennessee? I don't recall exactly). According to the article below, however, when measured by our current knowledge of genetic "mutation rates", pre-Clovis people could not have arrived here before 16,500 years ago. But not too long ago it was assumed that humans had been here much much longer than that -- based on our knowledge of genetic "mutation rates." And so it goes, darlings... At best, I consider the DNA studies problematical and would tend to rely more on archaeological evidence and improved techniques now being employed to more accurately pinpoint the age of certain items. CAN THEY BOTH BE RIGHT? We definitely need a new hypothesis to try and reconcile such disparate findings between the alleged time line via DNA evidence of how long people have been here versus the alleged age of certain archaeological sites and artifacts, including slaughtered animal bones, via current improved methods and technologies for radio-carbon dating and other dating techniques.
We are still in the infancy of DNA analysis, we should hold off drawing any conclusions based upon what we think we know right now. Clovis was gospel for 50 years; now it's been relegated to a footnote but back in its heyday, people were WARNED not to challenge Clovis (see article) because to do so would be a career killer! Let's not make the same mistake of jumping to conclusions about what we think DNA may be telling us.
Sooo, here's where we are at right now: DNA evidently is telling us that certain things probably happened a certain way; but the archaeological record suggests a much more complicated, and far older, story about people in the Americas. Just remember - so-called "Neanderthal" man used to be considered a species of "ape man" and if the thought had ever occurred to 18th and 19th and even some 20th century scientists that "Neanderthal" and so-called "modern humans" could or would ever have successfully interbred, they would probably have dismissed any such speculation as pure nonsense. They would have been DEAD WRONG, of course, as we now know.
What will DNA studies be telling us 50 years from now?
...and with good reason. If the Taino are "extinct" as a people then, using the same criteria, the native Hawaiians are also "extinct" as a people, and - now that I'm thinking about it - a lot of Native American Indian tribes are probably "extinct" too. Think of the implications -- just in terms of land claims and heritage exemptions, for instance... We're talking about billions of dollars.
I, like the many people who posted responses to this article, have to wonder what the true agenda is behind the way the findings of this study are being reported...
Published online 14 October 2011 | Nature | doi:10.1038/news.2011.592
Nature.com
Participants in the 1000 Genomes project reconstruct the genetic variation of a lost group of Native Americans.
Susan Young
The Taínos were the first Native Americans to meet European explorers in the Caribbean. They soon fell victim to the diseases and violence brought by the outsiders, and today no Taínos remain.
But the footprints of this extinct ethnicity are scattered throughout the genomes of modern Puerto Ricans, according to geneticist Carlos Bustamante at the Stanford University School of Medicine in Stanford, California. On average, the genomes of Puerto Ricans contain 10 to 15% Native American DNA, which is largely Taíno, says Bustamante.
At a presentation at the 12th International Congress of Human Genetics in Montreal, Canada, Bustamante described preliminary results from a study that aims to reconstruct the genetic features of the Taíno people. The cryptic information was found in the genomes of 70 modern Puerto Ricans, some of the latest additions to the ongoing 1000 Genomes project, an international consortium whose goal is to find the variations in DNA sequence among the genomes of all human populations.
Window on the past
The genomes of modern Puerto Ricans are a mosaic of African, European and Native American sequences. A set of single-nucleotide locations that are known to vary across these different ancestral groups helped Bustamente and his collaborators to identify whether a given region of the genome was African, European or Native American in origin, and thus begin to stitch together chromosomal segments corresponding to the Taíno heritage. The various Taíno sequences in the 70 different genomes will help to build a more complete picture of the ancestral Native American genomes.
The project has also shed light on the history of interactions between Native Americans, Africans and Europeans in the Caribbean. To infer when the various populations interbred, the team first estimated the lengths of each segment of African, European and Native American DNA in the modern genomes. They found the Taíno segments to be relatively short, suggesting a single 'pulse' of admixture a few hundred years ago. [How about checking the mitochondrial DNA, heh?]
The small size of the ancestral segments fits with our understanding of the history of Puerto Rico, says Marc Via, a molecular anthropologist at the University of Barcelona, Spain, who was not involved in the study. "The admixture took place suddenly, so most of the population mixed with the African slaves and European settlers in the very early colonization of Puerto Rico." But the Taínos quickly died out, so with every generation, the segments of Taíno genome would become smaller and smaller, he says.
Unlike the rapid mixing of Taíno with African and European genomes, the slave trade created a more complex pattern of African sequences. "The African and European segments have a fair amount of variation in size, which tells us that they are the result of several waves of migration," says Bustamante. Early insights from the study suggest that shorter, and therefore older, African segments come from populations near the coast of Senegal, whereas longer, more recent, segments come from inland African populations. This suggests that slave-traders first captured slaves on the coast but later had to go inland.
Tracking the slave trade
This information is key to understanding the history of the slave trade and African American history, says Bustamante. "Most Africans Americans in the United States have ancestry that largely traces to the African slaves that came through the Caribbean," he says. "We would love to be able to give folks back historical information that can be derived from DNA sequence data about where people came from."
The study, which includes collaborators at the University of Puerto Rico in Mayagüez, will also help address deficiencies in medical genetics data sets, which largely contain sequences of European origin1. "This now opens up the opportunity to undertake large-scale medical genetic studies in Puerto Ricans and in other populations of Afro-Caribbean and Hispanic-Latino descent."
References
Bustamante, C. D.,Burchard, E. G. & De La Vega, F. M.et al. Nature475, 163-165 (2011).
This kind of study is ample demonstration for why we need to get a hell of a lot more advanced in our techniques for recovery and analysis of DNA in the future! This article smacks of propaganda, and that ain't ever good. Whether the author of the study intended it to be so used, who knows? But right now, the science behind the article is being used/slanted to promote a certain genetic viewpoint of a country's history.
I keep thinking about the new knowledge we will have about the movement of people and languages and cultures 25 years from now, as our scientific tools -- and our applications of those tools to existing archaeological evidence -- are re-applied to that existing evidence (as long as it does not mysteriously disappear), and new forensic techniques utilizing knowledge of multiple cross-specialities that we can't even imagine in 2011 -- come to be and are also applied to that existing evidence. And that doesn't even begin to address what new evidence in archaeolgy, linguistics, paleo-botany, etc. etc. may come to light utilizing 21st century techniques of uncovering and analyzing ancient settlements, mathematical applications of computer algorithms to deciphering unknown languages and written symbols, etc. etc. Oh - and advances in DNA analysis, too! LOL! I'll be a little old bitchy lady with a cane (and knows how to use it), still spry 25 years from now. I don't intend to croak until I'm at least 100, and I envision a whole brave new world in 2051 and after, for my nieces and nephews and their descendants. Yep, it won't seem at all strange then, to acknowledge that ancestors of Native Americans (from east and west) roamed Canada, the USA, Central America and South America from 50,000 BCE and maybe even before then.
From Science Daily Genetic Study Uncovers New Path to Polynesia
ScienceDaily (Feb. 3, 2011) — Surprising new evidence which overturns current theories of how humans colonised the Pacific has been discovered by scientists at the University of Leeds, UK
The islands of Polynesia were first inhabited around 3,000 years ago, but where these people came from has long been a hot topic of debate amongst scientists. The most commonly accepted view, based on archaeological and linguistic evidence as well as genetic studies, is that Pacific islanders were the latter part of a migration south and eastwards from Taiwan which began around 4,000 years ago.
But the Leeds research -- published February 3 in The American Journal of Human Genetics -- has found that the link to Taiwan does not stand up to scrutiny. In fact, the DNA of current Polynesians can be traced back to migrants from the Asian mainland who had already settled in islands close to New Guinea some 6-8,000 years ago.
The type of DNA extracted and analysed in this kind of study is that stored in the cell's mitochondria. Mitochondrial DNA (mtDNA) is passed down the maternal line, providing a record of inheritance which goes back thousands of years. The scientists look for genetic signatures which enable them to classify the DNA into different lineages and then use a 'molecular clock' to date when these lineages moved into different parts of the world.
Lead researcher, Professor Martin Richards, explains: "Most previous studies looked at a small piece of mtDNA, but for this research we studied 157 complete mitochondrial genomes in addition to smaller samples from over 4,750 people from across Southeast Asia and Polynesia. We also reworked our dating techniques to significantly reduce the margin of error. This means we can be confident that the Polynesian population -- at least on the female side -- came from people who arrived in the Bismarck Archipelago of Papua New Guinea thousands of years before the supposed migration from Taiwan took place."
Nevertheless, most linguists maintain that the Polynesian languages are part of the Austronesian language family which originates in Taiwan. And most archaeologists see evidence for a Southeast Asian influence on the appearance of the Lapita culture in the Bismarck Archipelago around 3,500 years ago. Characterised by distinctive dentate stamped ceramics and obsidian tools, Lapita is also a marker for the earliest settlers of Polynesia.
Professor Richards and co-researcher Dr Pedro Soares (now at the University of Porto), argue that the linguistic and cultural connections are due to smaller migratory movements from Taiwan that did not leave any substantial genetic impact on the pre-existing population.
"Although our results throw out the likelihood of any maternal ancestry in Taiwan for the Polynesians, they don't preclude the possibility of a Taiwanese linguistic or cultural influence on the Bismarck Archipelago at that time," explains Professor Richards. "In fact, some minor mitochondrial lineages back up this idea. It seems likely there was a 'voyaging corridor' between the islands of Southeast Asia and the Bismarck Archipelago carrying maritime traders who brought their language and artefacts and perhaps helped to create the impetus for the migration into the Pacific.
"Our study of the mtDNA evidence shows the interactions between the islands of Southeast Asia and the Pacific was far more complex than previous accounts tended to suggest and it paves the way for new theories of the spread of Austronesian languages."
The study, which involved researchers from the UK, Taiwan and Australia, was mainly funded by the British Academy, the Bradshaw Foundation and the European Union.
Indeed, the identity of the strange breed of 'horse' that has been discovered in 2004, at Pompeii, has been cleared out by a Cambridge University researcher, who realized it was actually a donkey.
Back in 2004, when academics unearthed skeletons found at a house in the ancient Roman town that was covered in ashes in 79 AD, they thought it belonged to an extinct breed of horse.
The mistake was made at the DNA analysis, and Susan Gurney – from the University's Institute of Continuing Education, working with Dr Peter Forster on horse genetics at the University of Cambridge, realized the mistake when she revisited the study.
What happened really was that there seems to have been a mix-up in the lab, which led to horse DNA being combined with donkey DNA, creating an artificial hybrid that actually never existed.
Six years ago, the skeletons of equids having belonged to a rich Roman household in Pompeii were analyzed.
There were found in the stables of a probably wealthy politician, and all five of them were very well preserved by the volcanic ash that covered Pompeii and Herculaneum, when Mount Vesuvius erupted.
The team then analyzed the mitochondrial DNA sequences (mtDNA) of each of the horses, and found that one of them had a mysterious type of DNA, that was no longer found today, probably an
unknown breed of horse, which had disappeared.
Luckily, Susan Gurney examined the research and found that there was an accidental combination of a donkey mDNA sequence with that of a horse.
She explained in her journal article that the first 177 nucleotides matched existing patterns of donkey, and the next 193 nucleotides matched those of an existing breed of horse.
“Looking at the research with hindsight, it's possible to recognize two separate strands of horse and donkey DNA,” she said.
"In addition, the horse DNA that appears to have been inadvertently mixed in with the donkey's genetic information is the same type as that found in another Herculaneum horse, which might be the source of the mistake.”
This research could still have its importance, because apparently the DNA of this newly identified donkey finds its closest match with the DNA of domestic donkeys related to the Somali wild ass that lives in Italy today.
This might be evidence that the 'Somali' ass lineage dates back to at least Roman times, whereas in other European countries, asses are often descended from the Nubian lineage.
I found this article extremely troubling. How often do these kinds of "accidents" of cross-contamination in a lab testing DNA happen - and how often are they discovered? And, if discovered, how often is the "accident" publicized and the findings based on the "accident" retracted? How much information is out there now that is WRONG - based on analysis from contaminated DNA?
Good timing guys, in conjunction with the popular "King Tut" exhibition currently at the Denver Art Museum and an expected $100 million poured into the local economy as a result of people visiting to see the exhibition and spending while in the city.
Master promoter of Egyptian antiquities (not that they need any promotion, ancient Egypt has always been a favorite with people everywhere) Zahi Hawass, Extreme High Mucky Muck of Egyptian Antiquities (he will probably have himself cloned so he never has to give up his position) wrote the National Geographic article.
Here is a nice cover article from the Summit Daily News King Tut DNA findings
National Geographic reveals the mystery behind the boy-king
By Kimberly Nicoletti
September 5, 2010
And from the National Geographic website Tut's Family Secrets
September 10, 2010 issue
Includes a neat graphic of Tut's family tree through his great-grandparents.
From a press release at eurekalert.org
Public release date: 28-Jun-2010
Mitochondrial genome analysis revises view of the initial peopling of North America
June 29, 2010 – The initial peopling of North America from Asia occurred approximately 15,000-18,000 years ago, however estimations of the genetic diversity of the first settlers have remained inaccurate. In a report published online today in Genome Research (www.genome.org), researchers have found that the diversity of the first Americans has been significantly underestimated, underscoring the importance of comprehensive sampling for accurate analysis of human migrations.
Substantial evidence suggests that humans first crossed into North America from Asia over a land bridge called Beringia, connecting eastern Siberia and Alaska. Genetic studies have shed light on the initial lineages that entered North America, distinguishing the earliest Native American groups from those that arrived later. However, a clear picture of the number of initial migratory events and routes has been elusive due to incomplete analysis.
In this work, an international group of researchers coordinated by Antonio Torroni of the University of Pavia in Italy performed a detailed mitochondrial genome analysis of a poorly characterized lineage known as C1d. Mitochondrial DNA (mtDNA) is passed down through the maternal lineage, and mtDNA sequence markers are extremely useful tools for mapping ancestry. Similar to other haplogroups that were among the first to arrive in North America, C1d is distributed throughout the continent, suggesting that it may have been also present in the initial founding populations. However, C1d has not been well represented in previous genetic analyses, and the estimated age of approximately 7,000 years, much younger than the other founding haplogroups, was likely inaccurate.
To resolve these inconsistent lines of evidence, the group sequenced and analyzed 63 C1d mtDNA genomes from throughout the Americas. This high-resolution study not only confirmed that C1d was one of the founding lineages in North America 15,000 to 18,000 years ago, but revealed another critical insight. "These first female American founders carried not one but two different C1d genomes," said Ugo Perego of the Sorenson Molecular Genealogy Foundation and primary author of the study, "thus further increasing the number of recognized maternal lineages from Beringia."
These findings raise the number of founding maternal lineages in North America to fifteen. Furthermore, this work emphasizes the critical need for comprehensive analysis of relevant populations to gather a complete picture of migratory events.
Alessandro Achilli of the University of Perugia, a coauthor of the report, suggests that the number of distinct mitochondrial genomes that passed from Asian into North America is probably much higher. "These yet undiscovered maternal lineages will be identified within the next three to four years," Achilli noted, "when the methodological approach that we used in our study will be systematically applied."
If "Neanderthals" and so-called "modern Humans" could breed successfully, just how much difference are we talking about in their DNA sequences? As I understand it, modern humans and chimpanzees are the most closely-related surviving primates on the planet today - with some - what is that figure? - 2%? - differential in their DNA sequences, and yet I haven't read of a single successful cross-mating of humans and chimps. Is there something you aren't telling us, scientists?
And yet - lo and behold, like Manna falling from Heaven - now new DNA evidence reveals what may be something like the actual truth! "Neanderthals" and so-called "modern Humans" interbred and interbred enough for the "Neanderthals'" DNA to be present in modern-day people. Oh my!
Hmmmm..... Somehow, I feel very - justified. LOL! All it took was taking samples of the correct DNA (from modern people instead of from the bones of people who died out 40,000 and more years ago, duh!) and comparing their DNA sequences to those of the few Neanderthal sequences we have on record.
This is a follow-up to my post of yesterday, which provides much more information. I am copying it here in its entirety because (1) it is very important and (2) despite complaints I have received by some people on going far beyond "fair use" terms in copying articles, it is an envitable fact of internet life that articles disappear after a certain amount of time, and unless the contents are copied and saved, that articles are here today and gone tomorrow, and then they are gone forever. I discovered this tonight, much to my sadness, when I was looking for the November, 2002 article from The Milwaukee Journal Sentinel about the deaths of veterans, in which my late father, John Francis Newton, was featured. He died on November 3, 2002. So people, don't bitch and moan at me about my copying of articles in full at this blog. I do it for a very important reason - to preserve information - available free of charge - to whomever is interested in reading it.
From BBC News Neanderthal genes 'survive in us'
By Paul Rincon
Science reporter, BBC News
Page last updated at 18:02 GMT, Thursday, 6 May 2010 19:02 UK
Many people alive today possess some Neanderthal ancestry, according to a landmark scientific study.
The finding has surprised many experts, as previous genetic evidence suggested the Neanderthals made little or no contribution to our inheritance.
The result comes from analysis of the Neanderthal genome - the "instruction manual" describing how these ancient humans were put together.
Between 1%-4% of the genomes of people in Eurasia come from Neanderthals.
But the study confirms living humans overwhelmingly trace their ancestry to a small population of Africans who later spread out across the world.
The most widely-accepted theory of modern human origins - known as Out of Africa - holds that the ancestors of living humans (Homo sapiens) originated in Africa some 200,000 years ago.
A relatively small group of people then left the continent to populate the rest of the world between 50,000 and 60,000 years ago. [Okay - whatever. A tiny group of people manages to conquer an entire world and all competed "sapiens" for territory. Sounds very 19th century to me. Guess we haven't progressed all that much, science-wise, have we?]
While the Neanderthal genetic contribution - found in people from Europe, Asia and Oceania - appears to be small, this figure is higher than previous genetic analyses have suggested.
"They are not totally extinct. In some of us they live on, a little bit," said Professor Svante Paabo, from the Max Planck Institute for Evolutionary Anthropology in Leipzig, Germany.
Professor Chris Stringer, research leader in human origins at London's Natural History Museum, is one of the architects of the Out of Africa theory. He told BBC News: "In some ways [the study] confirms what we already knew, in that the Neanderthals look like a separate line.
"But, of course, the really surprising thing for many of us is the implication that there has been some interbreeding between Neanderthals and modern humans in the past."
John Hawks, assistant professor of anthropology at the University of Wisconsin-Madison in the US, told BBC News: "They're us. We're them.
"It seemed like it was likely to be possible, but I am surprised by the amount. I really was not expecting it to be as high as 4%," he said of the genetic contribution from Neanderthals.
The sequencing of the Neanderthal genome is a landmark scientific achievement, the product of a four-year-long effort led from Germany's Max Planck Institute but involving many other universities around the world.
The project makes use of efficient "high-throughput" technology which allows many genetic sequences to be processed at the same time.
The draft Neanderthal sequence contains DNA extracted from the bones of three different Neanderthals found at Vindija Cave in Croatia.
Retrieving good quality genetic material from remains tens of thousands of years old presented many hurdles which had to be overcome.
The samples almost always contained only a small amount of Neanderthal DNA amid vast quantities of DNA from bacteria and fungi that colonised the remains after death.
The Neanderthal DNA itself had broken down into very short segments and had changed chemically. Luckily, the chemical changes were of a regular nature, allowing the researchers to write software that corrected for them.
Writing in Science journal, the researchers describe how they compared this draft sequence with the genomes of modern people from around the globe.
"The comparison of these two genetic sequences enables us to find out where our genome differs from that of our closest relative," said Professor Paabo.
The results show that the genomes of non-Africans (from Europe, China and New Guinea) are closer to the Neanderthal sequence than are those from Africa.
The most likely explanation, say the researchers, is that there was limited mating, or "gene flow", between Neanderthals and the ancestors of present-day Eurasians.
This must have taken place just as people were leaving Africa, while they were still part of one pioneering population. This mixing could have taken place either in North Africa, the Levant or the Arabian Peninsula, say the researchers.
The Out of Africa theory contends that modern humans replaced local "archaic" populations like the Neanderthals.
But there are several variations on this idea. The most conservative model proposes that this replacement took place with no interbreeding between modern humans and Neanderthals.
Unique features
Another version allows for a degree of assimilation, or absorption, of other human types into the Homo sapiens gene pool.
The latest research strongly supports the Out of Africa theory [so far - where did Neanderthal come from?], but it falsifies the most conservative version of events.
The team also identified more than 70 gene changes that were unique to modern humans. These genes are implicated in physiology, the development of the brain, skin and bone.
The researchers also looked for signs of "selective sweeps" - strong natural selection acting to boost traits in modern humans. They found 212 regions where positive selection may have been taking place.
The scientists are interested in discovering genes that distinguish modern humans from Neanderthals because they may have given our evolutionary line certain advantages over the course of evolution.
The most obvious differences were in physique: the muscular, stocky frames of Neanderthals contrast sharply with those of our ancestors. But it is likely there were also more subtle differences, in behaviour, for example.
Dr Hawks commented that the amount of Neanderthal DNA in our genomes seemed high: "What it means is that any traits [Neanderthals] had that might have been useful in later populations should still be here.
"So when we see that their anatomies are gone, this isn't just chance. Those things that made the Neanderthals apparent to us as a population - those things didn't work. They're gone because they didn't work in the context of our population."
Researchers had previously thought Europe was the region where Neanderthals and modern humans were most likely to have exchanged genes. The two human types overlapped here for some 10,000 years.
The authors of the paper in Science do not rule out some interbreeding in Europe, but say it was not possible to detect this with present scientific methods.
One of the things about current DNA theory that is counter-intuitive to me is that human groups got less diverse the further away from Africa they moved. One would think that as more people around the world had the opportunity to meet and breed our DNA signatures would get more complicated, not less complicated. But the theory says that as people moved out of Africa (assuming the out of Africa theory is correct) and slowly travelled across and then filled the world, their DNA got less diverse.
This story definitely contradicts that view and for a startling reason - well, startling to some people.
Humans today could be part Neanderthal, according to a new study that found our ancestors interbred with an extinct hominid species some millennia ago.
Neanderthals walked the Earth between about 130,000 and 30,000 years ago. While they co-existed with modern humans for a while, eventually they went extinct and we didn't. There has been intense scientific debate over how similar the two species were, and whether they might have mated with each other.
"The issue has been highly contentious for some time," said University of New Mexico genetic anthropologist Keith Hunley.
Last week at the annual meeting of the American Association of Physical Anthropologists in Albuquerque, N.M., Hunley and colleagues presented the results of a new study that found evidence for interbreeding between modern humans and some other extinct ancient human species – either Neanderthals (Homo neanderthalensis) or another group such as Homo heidelbergensis. The research was first reported by NatureNews.
The researchers looked at DNA samples from humans living today, and found signs of leftover Neanderthal genes introduced from this interbreeding. They looked at genetic data from almost 2,000 people around the world, and calculated how much genetic variation existed between samples. The results indicate that some extinct group of hominids mixed their genes with ours at two points in history, Hunley said.
One period of interbreeding probably occurred shortly after Homo sapiens migrated out of Africa around 60,000 years ago. The researchers found an excess of genetic diversity in all modern people except Africans, suggesting that the influx of Neanderthal-like DNA came after the exodus from Africa.
A second period of interbreeding is suggested by the fact that the researchers measured even more genetic diversity among people of Oceanic descent – people from Australia, New Zealand, New Guinea and other Pacific islands.
"I think we show there's clear evidence in the genome of living people of this mixture," Hunley told LiveScience. "The fact that there's a clear signal implies that there was some significant amount" of interbreeding, he said.
This work is the first time scientists have used DNA from living people to look at this question, Hunley said.
In an earlier study, Erik Trinkaus of Washington University in St. Louis found suggestions of Neanderthal and modern human interbreeding by comparing ancient bone fossils from the two species.
Trinkaus said the new work fits into his findings, though he hasn't reviewed the details yet since Hunley's paper has not yet been published in a peer-reviewed journal. "The conclusion makes sense and fits with the majority of the data available," Trinkaus said.
Another anthropologist who has studied Neanderthal anatomy agreed.
"I have been arguing for this position throughout my career, ever since I began to study Neandertals and other populations," said Milford Wolpoff of the University of Michigan. "It has always seemed clear that some Neandertal anatomy appears in living populations."
Not everyone, though, will be easily convinced yet, Hunley said.
SUPAI, Ariz. — Seven years ago, the Havasupai Indians, who live amid the turquoise waterfalls and red cliffs miles deep in the Grand Canyon, issued a “banishment order” to keep Arizona State University employees from setting foot on their reservation — an ancient punishment for what they regarded as a genetic-era betrayal.
Members of the tiny, isolated tribe had given DNA samples to university researchers starting in 1990, in the hope that they might provide genetic clues to the tribe’s devastating rate of diabetes. But they learned that their blood samples had been used to study many other things, including mental illness and theories of the tribe’s geographical origins that contradict their traditional stories.
. . . .
But genetics experts and civil rights advocates say it may also fuel a growing debate over researchers’ responsibility to communicate the range of personal information that can be gleaned from DNA at a time when it is being collected on an ever-greater scale for research and routine medical care.
. . . .
Researchers and institutions that receive federal funds are required to receive “informed consent” from subjects, ensuring that they understand the risks and benefits before they participate. But such protections were designed primarily for research that carried physical risks, like experimental drug trials or surgery. When it comes to mining DNA, the rules — and the risks — are murkier.
Is it necessary, for instance, to ask someone who has donated DNA for research on heart disease if that DNA can be used for Alzheimer’s or addiction research?
Many scientists say no, arguing that the potential benefit from unencumbered biomedical research trumps the value of individual control.
“Everyone wants to be open and transparent,” said Dr. David Karp, an associate professor of internal medicine at the University of Texas Southwestern Medical Center in Dallas, who has studied informed consent for DNA research. “The question is, how far do you have to go? Do you have to create some massive database of people’s wishes for their DNA specimens?”
Watch what you say, or they'll be calling you a radical, a liberal, an intellectual, a criminal... The Logical Song (paraphrased), Supertramp, 1979
"We are what we defend, what we stand up for." Da Vinci Code, as spoken by the character Sophie Saunier in the movie version to character Professor Robert Langdon.
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5th Annual Grand Pacific Open April 22 -25, 2011 British Columbia, Canada
Hales Corners Challenge XIII April 16, 2011 Milwaukee, Wisconsin, USA
I'm one of the founders of Goddesschess, which went online May 6, 1999. I earned an under-graduate degree in history and economics going to college part-time nights, weekends and summer school while working full-time, and went on to earn a post-graduate degree (J.D.) I love the challenge of research, and spend my spare time reading and writing about my favorite subjects, travelling and working in my gardens. My family and my friends are most important in my life. For the second half of my life, I'm focusing on "doable" things to help local chess initiatives, starting in my own home town. And I'm experiencing a sort of personal "Renaissance" that is leaving me rather breathless...
