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RE: It Is ONLY History #Neanderthals
3/5/2017 9:01:42 PM
Extinct Neanderthals still control expression of human genes

Neanderthals are still affecting what illnesses some people develop, how tall they are and how their immune systems work, despite being extinct for 40,000 years.

This is thanks to the Neanderthal DNA those of non-African descent inherited from ancestors who mated with our cousins some 50,000 years ago. A study has now revealed how this genetic legacy is still controlling how some people’s genes work, with possible consequences for their health.

Tellingly, the Neanderthal influence has waned fastest in parts of the body that evolved most rapidly around that time, especially the brain. It suggests that once our direct human ancestors had evolved the equipment for sophisticated language and problem-solving, mating with Neanderthals – and the DNA that came with it – rapidly fell out of fashion.

But Neanderthal control of human genes endures, some of it positive and some negative. Evidence comes from an in-depth analysis of DNA from 214 people in the US, focusing on individuals of European ancestry. By comparing their modern DNA with that from Neanderthals ­– whose genome was sequenced in 2008 ­– a team led by Joshua Akey at the University of Washington in Seattle was able to identify which Neanderthal gene fragments had survived and were still active in 52 different types of human tissue.

The team found that some people had one human and one Neanderthal copy of the same gene. When comparing these genes, Akey and his colleagues found that a quarter showed differences in activity between the modern and Neanderthal versions of the same gene. More importantly, the researchers could tell which variant had the upper hand.

Upper hand

In one example, it turns out that Neanderthals may still be protecting some people from developing schizophrenia, as well as making them taller. A gene called ADAMTSL3 is a known risk factor for schizophrenia. But the way the gene is controlled by surviving Neanderthal DNA reduces risk and increases height, the team found.

“Strikingly, we find that Neanderthal sequences present in living individuals are not silent remnants of hybridisation that occurred over 50,000 years ago, but have ongoing, widespread and measurable impacts on gene activity,” says Akey.

Most genes can generate a variety of different proteins that do different jobs in different tissues of the body, depending on how sub-units of the protein are assembled. Akey’s study shows that the key contemporary impact of the Neanderthal remnants is in dictating which variant of a protein gets produced today.

“The results add to increasing evidence that these effects are often the outcome of changes to the genetic switches,” says Tony Capra of Vanderbilt University in Nashville, Tennessee. His own results published last year revealed Neanderthal influences on a variety of human disorders, including depression and addiction.

“The implication is that these variants that came into the human gene pool around 50,000 years ago are still affecting human biology,” says Sriram Sankararaman at the University of California at Los Angeles. “This study makes important progress in understanding how Neanderthal genes many of us carry in our genomes affect diverse human traits by dictating how genes are regulated.”

Receding influence

Elsewhere, however, the influence of our long dead cousins is receding, nowhere more so than in the brain and – unexpectedly – the testes. “Changes in gene regulation between modern humans and Neanderthals were greatest for these tissues,” says Akey.

“The finding that these Neanderthal variants tend to have lower activity in brains and testes is intriguing, as it offers hints on which aspects of biology diverged most rapidly between Neanderthals and us,” says Sankararaman.

Neanderthal control waned most in the cerebellum and the basal ganglia, brain regions vital for fine motor control and perception, that evolved further in humans to encompass advanced thinking, including language processing and behaviour.

One gene with fading Neanderthal influence is NTRK2, key to neuron survival and the formation of brain connections. This illustrates the kinds of fine-tuning that may have allowed our ancestors to soar away intellectually.

The differences in the testes, meanwhile, throw new light on how a species may eventually split by becoming sexually incompatible. One of the testes genes over which Neanderthal DNA lost control affects the formation of a sperm’s tail and, subsequently, its ability to penetrate and fertilise an egg.

Akey and his colleagues speculate that once this control had been relinquished, neither Neanderthals nor Neanderthal-human hybrids could mate with humans any more. “Our results are consistent with reduced fitness of male hybrid offspring,” says Akey.

Journal reference: Cell, DOI: 10.1016/j.cell.207.01.038

Read more: Meet our hybrid ancestors who kept extinct humans’ DNA alive

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RE: It Is ONLY History #extinct_human_species
3/5/2017 9:09:20 PM
Ancient skulls unearthed in China could belong to little-known extinct human species


In 2007, researchers from the Institute of Vertebrate Paleontology and Paleoanthropology in Beijing were finishing up an archaeological dig in Lingjing, China, when a team member spotted some quartz tools poking out of the mud. After extending the dig, the tools were extracted, revealing an even more significant discovery: a small, ancient skull fragment approximately 100,000 to 130,000 years old.

Over the next few years, the researchers returned to the site multiple times, finding more cranium pieces until they were able to reconstruct two partial skulls from more than 40 separate fragments.

But when the team analyzed the skull fragments, they realized that the skulls neither fit the bill for Homo sapiens nor Neanderthals but that they shared characteristics of both human species. Ultimately, the researchers were unable to positively determine exactly what kind of human the skulls belong to, opening the door to a wide range of intriguing possibilities.

In an article published Friday in the journal Science, the researchers note that the skull fragments date to the Late Pleistocene epoch, a time marked by the expansion of H. sapiens and the extinction of other species in the genus Homo. During the early part of that epoch, Neanderthals roamed Europe and western Asia while humans began to journey out of Africa. But fossil records of human species in Eastern Asia from that time period are thin, muddying the picture of that era for a substantial region of the planet.

The skulls found in China were found to bear very close resemblances to those of Neanderthals, including a very similar inner ear bone and a prominent brow ridge. But the brow ridge was much less pronounced than one would expect from Neanderthals, with a considerably less dense cranium, as one might expect in an early H. sapiens. But perhaps most similarly to the modern human, researchers found an extremely large brain capacity for the skulls, a whopping 1800 cubic centimeters.

"They are not Neanderthals in the full sense," study co-author Erik Trinkaus, a paleoanthropologist at Washington Univer­sity in St. Louis, told Science Magazine.

So what are they? It's hard to say, since the skulls contain features associated with modern humans, Neanderthals, and other Eastern Asian humans from the epoch.

"The overall cranial shape, especially the wide cranial base, and low neurocranial vault, indicate a pattern of continuity with the earlier, Middle Pleistocene eastern Eurasian humans. Yet the presence of two distinctive Neanderthal features ... argue for populational interactions across Eurasia during the late Middle and early Late Pleistocene," said Dr. Trinkaus in a statement.

Essentially, the skulls seem to belong to an unknown species that is none of the above – or, to be more accurate, a mix of all of the above.

"I don't like to think of these fossils as those of hybrids," study co-author and anthropologist Trinkaus told News.com.au. "Hybridization implies that all of these groups were separate and discrete, only occasionally interacting. What these fossils show is that these groups were basically not separate. The idea that there were separate lineages in different parts of the world is increasingly contradicted by the evidence we are unearthing."

While this specific group of early humans the skulls belong to might never have been discovered before, it is possible that the remains may belong to a little-known hominid species known as Denisovans, which existed around the same time and mixed with modern humans and Neanderthals. But there's one catch: scientists don't have any Denisovan skulls to compare the China samples with. Only a few Denisovan remains have been previously uncovered, including a single finger bone and a large tooth, which scientists determined was distinct from Neanderthals and modern humans through DNA tests.

"It is not possible to infer skull morphology from ancient DNA directly," Phillipp Gunz, an evolutionary anthropologist at the Max Planck Institute in Leipzig who was not involved in the study, told The Washington Post. "I therefore hope that future studies will be able to extract ancient DNA from these or similar specimens," though he added that many of the features in the skulls did match up with what many experts imagine Denisovan skulls to be like.

Until a definitive DNA test is conducted on the skull samples, their true origins will remain a mystery. But there's still a lot that can be learned from them in the meantime.

"The biological nature of the immediate predecessors of modern humans in eastern Eurasia has been poorly known from the human fossil record," said Trinkaus, in a Washington University, St. Louis statement. "The discovery of these skulls of late archaic humans from Xuchang substantially increases our knowledge of these people."

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