Ötzi, Last of his Kind?
Submitted by coldrum on Thursday, 06 November 2008 Page Views: 1816
Other ArchaeologyCountry: Italy Researchers Complete Mitochondrial Genome Of Ancient Mummy, The Tyrolean Iceman. The 5,300 year old human mummy – dubbed Ötzi or 'the Tyrolean Iceman' – is highly unlikely to have modern day relatives, according to new research.A team comprising scientists from Italy and the UK has sequenced Ötzi's entire mitochondrial DNA (mtDNA) genome – which is passed down through the maternal line – and found that he belonged to a genetic lineage that is either extremely rare, or that has died out.
Published in this month's issue of Current Biology, the research has generated the oldest complete Homo sapiens mtDNA genome to date, and overturns previous research conducted in 1994 on a small section of Ötzi's mtDNA, which suggested that relatives of Ötzi may still exist in Europe.
"Changes arise only gradually in mitochondrial DNA as it is passed down the generations," says co-author Professor Martin Richards of the University of Leeds' Faculty of Biological Sciences, "and so it provides an effective way of tracking ancestry through the female line across many thousands of years, as well as examining evolutionary relatedness across human populations."
The team, led by Professor Franco Rollo at the University of Camerino and Dr Luca Ermini working at both Camerino and Leeds, used powerful new technologies to sequence Ötzi's mtDNA and match it with a modern day haplogroup – in genetic terms, a group that shares a common ancestral DNA sequence. He belonged to a branch of haplogroup K1, which is still common throughout Europe today. However, almost all members of K1 sampled from modern Europeans belong to one of three sub-lineages, whereas Ötzi's lineage was completely distinct.
After death DNA begins to degrade immediately, so ancient DNA is very fragmented and any study of it has to be completed in hundreds of sections. For this research the team tested around 250 fragments, each of which had to be sequenced many times to ensure the results were not distorted.
"Our analysis confirms that Ötzi belonged to a previously unidentified lineage of K1 that has not been seen to date in modern European populations. The frequency of genetic lineages tends to change over time, due to random variations in the number of children people have - a process known as 'genetic drift' - and as a result, some variants die out. Our research suggests that Ötzi's lineage may indeed have become extinct," says Prof Richards.
Read more at Science Daily





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