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Ancient DNA reveals genetic history of modern Europe

02 Jul, 2013

DNA recovered from 39 prehistoric human skeletal remains in central Germany has been used to help create the first detailed genetic history of modern Europe.

The remains ranged in age from the first farmers of the Early Neolithic 7500 years ago through to the socially stratified chiefdoms of the Early Bronze Age 3500–4000 years ago and the Iron Age 2500 years ago.

Whole genomes from skeletal remains sequenced

To investigate the relationship between European genetics and archaeological records, an international team of researchers, including scientists from the University of Adelaide’s Australian Centre for Ancient DNA (ACAD), sequenced whole hg H mt genomes from the skeletal remains. The remains from the Mittelelbe-Saale region of Saxony-Anhalt in Germany were already directly assigned to distinct Central European archaeological cultures, which included:

  • the first farmers of the Early Neolithic linear pottery culture (5450–4775 BC), Rössen (4625–4250 BC), Schöningen (4100–3950 BC), Baalberge (3950–3400 BC) and Salzmünde (3400–3025 BC) cultures
  • the first pan-European Late Neolithic cultural complexes – the Corded Ware (2800–2050 BC) and Bell Beaker (2500–2050 BC) cultures, the Early Bronze Age with the Unetice culture (2200–1575 BC), the Nuragic Bronze Age (1624 BC) and the Iron Age (500 BC).

The results of the study were published in the 16 April 2013 edition of the journal Nature Communications.

Focus on Haplogroup H genetic group

The researchers chose to focus on the maternally inherited (mitochondrial DNA) genetic group, called Haplogroup H (hg H), for several reasons, including:

  • the recent dramatic rise in frequency of hg H to become the dominant hg in Europe (now carried by up to 45% of Europeans)
  • its presence in all Neolithic cultures in the Mittelelbe-Saale region
  • the potential hg H provided to explore detailed genetic structure on a sub-hg level.

“Overall, our results suggest that the broad foundations of the Central European mtDNA pool, here approximated via hg H, were formed during the Neolithic rather than the post-glacial period,” the researchers write in their research paper.

First high-resolution genetic record through time

The results reveal a dramatic series of events including major migrations from both Western Europe and Eurasia and signs of an unexplained genetic turnover about 4000–5000 years ago.

“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,” says joint lead author Dr Wolfgang Haak of ACAD.

“The record of this maternally inherited genetic group [hg 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,” says joint lead author Dr Paul Brotherton, formerly at ACAD and now at the University of Huddersfield, UK.

Genetic markers suddenly replaced 4500 years ago

ACAD Director Professor Alan Cooper (an old boy of Naenae College, Lower Hutt!) said in a press release, “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.”

“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,” says Dr Haak. “This genetic diversity was then modified further by a series of incoming and expanding cultures from Iberia and Eastern Europe through the Late Neolithic.”

“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,” says Dr Brotherton. “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.”

Investigating the demographic history of Europe

Professor Cooper says the 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.”

The international team also included researchers from the University of Sydney, Johannes Gutenberg University and the State Museum for Prehistory, both in Germany, University Medical Centre in Rotterdam, the Institut Pasteur – Unit of Evolutionary Genetics in Paris, Rambam Medical Centre in Israel and the National Geographic Society’s Genographic Project.

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