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Fine characterization of the Iceman's mtDNA haplogroup
Author(s) -
Rollo Franco,
Ermini Luca,
Luciani Stefania,
Marota Isolina,
Olivieri Cristina,
Luiselli Donata
Publication year - 2006
Publication title -
american journal of physical anthropology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.146
H-Index - 119
eISSN - 1096-8644
pISSN - 0002-9483
DOI - 10.1002/ajpa.20384
Subject(s) - haplogroup , mitochondrial dna , human mitochondrial dna haplogroup , mtdna control region , biology , genetics , polymerase chain reaction , evolutionary biology , population , haplotype , gene , genotype , demography , sociology
Abstract 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. Am J Phys Anthropol, 2006. © 2006 Wiley‐Liss, Inc.