title: Fine characterization of the Iceman's mtDNA haplogroup.
abstract: Starting from specimens of the intestinal contents of the so-called Tyrolean Iceman or Otzi (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.
authors.affiliation: Laboratorio di Archeo-Antropologia Molecolare/DNA Antico, Dipartimento di Biologia Molecolare, Cellulare e Animale, Università di Camerino, I-62032 Camerino, Italy. francougo.rollo@unicam.it
authors.forename: Franco
authors.initials: F
authors.lastname: Rollo
authors.forename: Luca
authors.initials: L
authors.lastname: Ermini
authors.forename: Stefania
authors.initials: S
authors.lastname: Luciani
authors.forename: Isolina
authors.initials: I
authors.lastname: Marota
authors.forename: Cristina
authors.initials: C
authors.lastname: Olivieri
authors.forename: Donata
authors.initials: D
authors.lastname: Luiselli
mesh_terms: D001483:Base Sequence; D003106:Colon; D004272:DNA, Mitochondrial / Q000737:chemistry / Q000235:genetics*; D005060:Europe; D005766:Gastrointestinal Contents / Q000737:chemistry*; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D007082:Ileum; D008297:Male; D009106:Mummies; D009154:Mutation; D010802:Phylogeny; D016133:Polymerase Chain Reaction; D012007:Rectum; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA
chemical_list: D004272:DNA, Mitochondrial