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European Origins

April 2013 - The origins of modern Europeans have been revised by an international team who have been working on genetic prehistory of Europeans for the past 7-8 years.

Their study, published in Nature Communications, shows the consequences of major migrations from both Western Europe and Eurasia, includingf an unexplained 'genetic turnover' around 4000-5000 years ago. The researchers recovered mitochondrial DNA from bone and teeth samples from prehistoric (upto 7000 years old) human skeletons found in Ancient DNA recovered from a series of skeletons in central Germany.

Mitochondrial DNA is passed down through the maternal line. The extracted DNA was sequenced to reveal a group of maternal genetic lineages now carried by up to 45% of modern Europeans. In the first study of ancient populations to use a large number of mitochondrial genomes, new advances in molecular biology were utilised to sequence entire mitochondrial genomes from the ancient skeletons.

The research was conducteded at the University of Adelaide's Australian Centre for Ancient DNA (ACAD). The team also included collaborators from the University of Mainz in Germany and the National Geographic Society's Genographic Project.

According to joint lead author Dr Wolfgang Haak of ACAD:

"This is the first high-resolution genetic record of these lineages through time, and it is fascinating that we can directly observe both human DNA evolving in 'real-time', and the dramatic population changes that have taken place in Europe,

"We can follow over 4000 years of prehistory, from the earliest farmers through the early Bronze Age to modern times.

"We have established that the genetic foundations for modern Europe were only established in the Mid-Neolithic, after this major genetic transition around 4000 years ago. This genetic diversity was then modified further by a series of incoming and expanding cultures from Iberia and Eastern Europe through the Late Neolithic."

Joint lead author Dr Paul Brotherton, formerly of ACAD, now at the University of Huddersfield, UK said:

"The record of this maternally inherited genetic group, called Haplogroup H, shows that the first farmers in Central Europe resulted from a wholesale cultural and genetic input via migration, beginning in Turkey and the Near East where farming originated and arriving in Germany around 7500 years ago.

"The expansion of the Bell Beaker culture (named after their pots) appears to have been a key event, emerging in Iberia around 2800 BC and arriving in Germany several centuries later. This is a very interesting group as they have been linked to the expansion of Celtic languages along the Atlantic coast and into central Europe."

ACAD Director Professor Alan Cooper commented:

"What is intriguing is that the genetic markers of this first pan-European culture, which was clearly very successful, were then suddenly replaced around 4500 years ago, and we don't know why. Something major happened, and the hunt is now on to find out what that was."

"These well-dated ancient genetic sequences provide a unique opportunity to investigate the demographic history of Europe. We can not only estimate population sizes but also accurately determine the evolutionary rate of the sequences, providing a far more accurate timescale of significant events in recent human evolution."

Professor Kurt Alt of the University of Mainz said:

"This work shows the power of archaeology and ancient DNA working together to reconstruct human evolutionary history through time. We are currently expanding this approach to other transects across Europe."

Genographic Project director Spencer Wells concluded:

"Studies such as this on ancient remains serve as a valuable adjunct to the work we are doing with modern populations in the Genographic Project. While the DNA of people alive today can reveal the end result of their ancestors' ancient movements, to really understand the dynamics of how modern genetic patterns were created we need to study ancient material as well."

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