Daily Archives: April 14, 2015

File photo - Hyperrealistic face of a neanderthal male is displayed in a cave in the new Neanderthal Museum in the northern Croatian town of Krapina Feb. 25, 2010.(REUTERS/Nikola Solic)

The calcite-encrusted skeleton of an ancient human, still embedded in rock deep inside a cave in Italy, has yielded the oldest Neanderthal DNA ever found.

These molecules, which could be up to 170,000 years old, could one day help yield the most complete picture yet of help paint a more complete picture of Neanderthal life, researchers say.

Although modern humans are the only remaining human lineage, many others once lived on Earth. The closest extinct relatives of modern humans were the Neanderthals, who lived in Europe and Asia until they went extinct about 40,000 years ago. Recent findings revealed that Neanderthals interbred with ancestors of today's Europeans when modern humans began spreading out of Africa 1.5 to 2.1 percent of the DNA of anyone living outside Africa today is Neanderthal in origin. [Image Gallery: Our Closest Human Ancestor]

In 1993, scientists found an extraordinarily intact skeleton of an ancient human amidst the stalactites and stalagmites of the limestone cave of Lamalunga, near Altamura in southern Italy a discovery they said had the potential to reveal new clues about Neanderthals.

"The Altamura man represents the most complete skeleton of a single nonmodern human ever found," study co-author Fabio Di Vincenzo, a paleoanthropologist at Sapienza University of Rome, told Live Science. "Almost all the bony elements are preserved and undamaged."

The Altamura skeleton bears a number of Neanderthal traits, particularly in the face and the back of the skull. However, it also possesses features that usually aren't seen in Neanderthals for instance, its brow ridges were even more massive than those of Neanderthals.These differences made it difficult to tell which human lineage the Altamura man might have belonged to. Moreover, the Altamura skeleton remains partially embedded in rock, making it difficult to analyze.

Now, new research shows that DNA from a piece of the skeleton's right shoulder blade suggests the Altamura fossil was a Neanderthal. The shape of this piece of bone also looks Neanderthal, the researchers said.

In addition, the scientists dated the skeleton to about 130,000 to 170,000 years old. This makes it the oldest Neanderthal from which DNA has ever been extracted. (These bones are not the oldest known Neanderthal fossils the oldest ones ever found are about 200,000 years old. This isn't the oldest DNA ever extracted from a human, either; that accolade goes to 400,000-year-old DNA collected from relatives of Neanderthals.)

The bone is so old that its DNA is too degraded for the researchers to sequence the fossil's genome at least with current technology. However, they noted that next-generation DNA-sequencing technologies might be capable of such a task, which "could provide important results on the Neanderthal genome," study co-author David Caramelli, a molecular anthropologist at the University of Florence in Italy, told Live Science.

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Oldest Neanderthal DNA

While it has long been recognized that genetics -- alongside environmental factors -- play a role in developing psychiatric disorders, the function of individual genes is still largely unknown. But an international, multi-disciplinary team led by Bournemouth University's Dr Kevin McGhee is aiming to uncover just that -- using fruit flies to isolate and examine the genes involved in the development of schizophrenia, with the hope of improving knowledge and treatments for the condition.

"In psychiatric genetics, a lot of time and money has been invested in large, genomewide studies to find the genes that are involved," said Dr McGhee, a Senior Lecturer in Health Sciences at Bournemouth University (BU). "Now, we want to find out what the functions of those genes are. If you can do that, the ultimate impact is that you can then design better treatments." Dr McGhee is the principal investigator of the year-long project, working alongside colleagues from the National University of Ireland, Galway and University of British Columbia, Vancouver.

Students are also playing a part in the Bournemouth University funded project, with a number of dissertation students trained to carry out lab-based examinations of the fruit flies. They will isolate and switch off genes that human data has previously indicated play a role in schizophrenia, before examining the effect on the flies' nerve cells at different life stages.

"If we can prove that it works and can be applied to human psychiatric genetics, then it helps create a cheap and easy functional model that is beneficial to everyone," explained Dr McGhee. "I believe what we find out from these genetic studies will help infer what is going on biologically, and that will ultimately lead to better treatment."

Another strand of the research will help kickstart the use of psychiatric genetic counselling in the UK. Genetic counselling -- where patients and relatives are given advice and support around the probability of developing an inherited disorder -- has long been used to assess the risks around conditions like Down's Syndrome and certain cancers.

A psychiatric genetic counselling workshop -- the first of its kind -- is being held by the research team. It will explore how best to translate the increasing knowledge about the genetics of psychiatric disorders into educational and counselling-based interventions to improve outcomes for patients and their families.

"Genetic counselling will probably expand over the next ten or 20 years and we want to put BU at the forefront, as a UK leader in the field," said Dr McGhee, adding that the workshop has already attracted interest from around the world. "I think people having that education and training to be able to explain and support people through diagnosis will lead to better treatments and help reduce that sense of stigma and guilt around psychiatric disorders."

Open access publishing is another way in which Dr McGhee believes that the wider public can benefit and learn from research projects. "Impact is really important for research and open access really helps to achieve that -- as anyone can see it, whether they are students, doctors, charities, policy makers, whoever," he said. "I think, hopefully, another impact of this work will be to better show where we are with this research, which again goes back to open access -- helping people to see that there are hundreds of markers and hundreds of genes and they each have a very small effect.

"Ultimately, we want to educate the healthcare professionals, policy makers and eventually the public -- the patients and families who suffer from psychiatric diseases -- so that they are better informed."

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The genetics of psychiatric disorders