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DNA Sequencing Traces Ancient Phoenician to Rare European Ancestral Group

Remains of "Young Man of Byrsa"

NEW YORK (GenomeWeb) – Mitochondrial genome sequencing of a 2,500-year-old Phoenician has linked the man's ancestry to a haplogroup associated with European hunter-gatherer populations. 

Researchers — co-led by Lisa Matisoo-Smith at the University of Otago in New Zealand — reported the results of the first Phoenician mitochondrial genome today in PLOS One, providing evidence that the European mitochondrial haplogroup arrived in North Africa as early as the late sixth century BC.

The remains of the ancient Phoenician were found in 1994 buried on Byrsa Hill in Carthage, Tunisia, at what was previously a Phoenician acropolis. Gardeners who were planting a tree came across a tomb with a sarcophagus holding the skeleton.

Previous analyses of Phoenician genetic ancestry focused on variation in the Y chromosome since Phoenicians were known as traders and the traders were most commonly men. There are currently six Phoenician Y-STR markers recognized, but the new Otago-led study is the first time that the entire mitochondrial genome of a Phoenician has been sequenced.

Researchers at the University of Otago's ancient DNA facility sequenced a DNA sample extracted from one of the skeleton's ribs, generating 4,851 filtered reads that aligned to the human mitochondrial reference, for 33.1-fold coverage. They used the online tool Haplogrep to analyze the variable sites, and found that the mitochondrial genome was from the haplogroup U5b2c1, considered to be one of the most ancient haplogroups in Europe, and associated with hunter-gatherer populations. The U5b haplogroup is thought to have arisen in Europe between 20,000 and 24,000 years ago.

"While a wave of farming peoples from the Near East replaced these hunter-gatherers, some of their lineages may have persisted longer in the far south of the Iberian peninsula and on off-shore islands and were then transported to the melting pot of Carthage in North Africa via Phoenician and Punic trade networks," Mastisoo-Smith said in a statement. The haplogroup is rare in modern populations and all of the reported carriers of the subgroup are of European ancestry from Spain, Portugal, England, Ireland, Scotland, the US, and Germany.

Because Phoenicians are thought to originate in Lebanon, the researchers also compared the ancient mitochondrial genome to mitochondrial genomes from 47 modern Lebanese people. Only two were of the U5b2 lineage and none were of the U5b2c1 subgroup.  Interestingly, the researchers found that the ancient Phoenician was most closely related to a modern-day sample from Portugal.

The researchers noted that previous analyses have found modern individuals from North and Northwest Africa who were from the U5b haplogroup, although because there are very few full mitochondrial genomes available, it is unknown whether any are specifically of the U5b2c1 subgroup. A separate group of researchers previously found a U5b1b1 subgroup that clustered in some North African populations.

"Given that haplogroup U5b2c1 has not been previously reported in North Africa, we suggest that the ancestry of our young man is likely traced to some population across the Mediterranean, which is consistent with his proposed European cranial traits," the authors wrote in their paper.

They added that additional research on ancient DNA from Phoenician remains is ongoing, and that this work will help to "better understand the origins and impact of Phoenician peoples and their culture throughout the Mediterranean region and beyond and better reconstruct ancient population migrations and trade and exchange networks, and the degree to which these influenced genetic variation seen in the Mediterranean region today."