The oldest human to have his complete mitonchondrial (mtDNA) genome sequenced, a 5,000-year-old "Iceman" mummy known as Ötzi, does not appear to have any living relatives in Europe. The new genetic analysis reveals that Ötzi belonged to a previously unknown branch of human evolution. Said study coauthor Franco Rollo:
"Apparently, this genetic group is no longer present.... We don't know whether it is extinct or it has become extremely rare" [HealthDay News].
The researchers extracted DNA from Iceman's rectum. They analyzed the genome of the cells' energy-making structures, called mitochondria. "You only get mitochondrial DNA from your mother, and she gets it from her mother and so on, so it forms an unbroken link all the way back to the common maternal ancestor of all of us," said researcher Martin Richards [LiveScience]. Earlier studies of fragments of
Ötzi's mtDNA had indicated that he was of the K1 lineage, which is ...