Fine characterization of the Iceman's mtDNA haplogroup

Franco Rollo*, Luca Ermini, Stefania Luciani, Isolina Marota, Cristina Olivieri, Donata Luiselli

*Corresponding author for this work

Research output: Contribution to journalArticleResearchpeer-review

25 Citations (Scopus)


Starting from specimens of the intestinal contents of the so-called Tyrolean Iceman or Ötzi (5,350-5,100 years before present), it was possible by polymerase chain reaction to amplify fragments of the human mitochondrial DNA (mtDNA) control region that correspond to the sequence found in 1994 at the Munich and Oxford laboratories and which had been attributed to the original DNA of the mummy. The particularly favorable condition of the specimens, showing very low contamination levels, made it easier to extend the analyses to the coding region, which had not previously been considered. The mtDNA of the European population is currently divided into nine (H, T, U, V, W, X, I, J, and K) main groups (haplogroups). The K haplogroup, in particular, is composed of two (K1 and K2) subclusters. The results demonstrate that the Iceman's mtDNA belongs to the K1 subcluster, yet it does not fit any of the three known branches (a, b, and c) into which the K1 subcluster is presently divided. In addition, some other sites, reported to be linked to environmental adaptation or pathologies, were investigated.

Original languageEnglish
Pages (from-to)557-564
Number of pages8
JournalAmerican Journal of Physical Anthropology
Issue number4
Publication statusPublished - Aug 2006
Externally publishedYes


  • Ancient DNA
  • Mummy
  • mtDNA coding region


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