title: New insights into the Tyrolean Iceman's origin and phenotype as inferred by whole-genome sequencing.
abstract: The Tyrolean Iceman, a 5,300-year-old Copper age individual, was discovered in 1991 on the Tisenjoch Pass in the Italian part of the Ötztal Alps. Here we report the complete genome sequence of the Iceman and show 100% concordance between the previously reported mitochondrial genome sequence and the consensus sequence generated from our genomic data. We present indications for recent common ancestry between the Iceman and present-day inhabitants of the Tyrrhenian Sea, that the Iceman probably had brown eyes, belonged to blood group O and was lactose intolerant. His genetic predisposition shows an increased risk for coronary heart disease and may have contributed to the development of previously reported vascular calcifications. Sequences corresponding to ~60% of the genome of Borrelia burgdorferi are indicative of the earliest human case of infection with the pathogen for Lyme borreliosis.
authors.affiliation: Department of Human Genetics, Saarland University, 66421 Homburg, Saar, Germany.
authors.forename: Andreas
authors.initials: A
authors.lastname: Keller
authors.forename: Angela
authors.initials: A
authors.lastname: Graefen
authors.forename: Markus
authors.initials: M
authors.lastname: Ball
authors.forename: Mark
authors.initials: M
authors.lastname: Matzas
authors.forename: Valesca
authors.initials: V
authors.lastname: Boisguerin
authors.forename: Frank
authors.initials: F
authors.lastname: Maixner
authors.forename: Petra
authors.initials: P
authors.lastname: Leidinger
authors.forename: Christina
authors.initials: C
authors.lastname: Backes
authors.forename: Rabab
authors.initials: R
authors.lastname: Khairat
authors.forename: Michael
authors.initials: M
authors.lastname: Forster
authors.forename: Björn
authors.initials: B
authors.lastname: Stade
authors.forename: Andre
authors.initials: A
authors.lastname: Franke
authors.forename: Jens
authors.initials: J
authors.lastname: Mayer
authors.forename: Jessica
authors.initials: J
authors.lastname: Spangler
authors.forename: Stephen
authors.initials: S
authors.lastname: McLaughlin
authors.forename: Minita
authors.initials: M
authors.lastname: Shah
authors.forename: Clarence
authors.initials: C
authors.lastname: Lee
authors.forename: Timothy T
authors.initials: TT
authors.lastname: Harkins
authors.forename: Alexander
authors.initials: A
authors.lastname: Sartori
authors.forename: Andres
authors.initials: A
authors.lastname: Moreno-Estrada
authors.forename: Brenna
authors.initials: B
authors.lastname: Henn
authors.forename: Martin
authors.initials: M
authors.lastname: Sikora
authors.forename: Ornella
authors.initials: O
authors.lastname: Semino
authors.forename: Jacques
authors.initials: J
authors.lastname: Chiaroni
authors.forename: Siiri
authors.initials: S
authors.lastname: Rootsi
authors.forename: Natalie M
authors.initials: NM
authors.lastname: Myres
authors.forename: Vicente M
authors.initials: VM
authors.lastname: Cabrera
authors.forename: Peter A
authors.initials: PA
authors.lastname: Underhill
authors.forename: Carlos D
authors.initials: CD
authors.lastname: Bustamante
authors.forename: Eduard Egarter
authors.initials: EE
authors.lastname: Vigl
authors.forename: Marco
authors.initials: M
authors.lastname: Samadelli
authors.forename: Giovanna
authors.initials: G
authors.lastname: Cipollini
authors.forename: Jan
authors.initials: J
authors.lastname: Haas
authors.forename: Hugo
authors.initials: H
authors.lastname: Katus
authors.forename: Brian D
authors.initials: BD
authors.lastname: O'Connor
authors.forename: Marc R J
authors.initials: MR
authors.lastname: Carlson
authors.forename: Benjamin
authors.initials: B
authors.lastname: Meder
authors.forename: Nikolaus
authors.initials: N
authors.lastname: Blin
authors.forename: Eckart
authors.initials: E
authors.lastname: Meese
authors.forename: Carsten M
authors.initials: CM
authors.lastname: Pusch
authors.forename: Albert
authors.initials: A
authors.lastname: Zink
mesh_terms: D001483:Base Sequence; D025065:Borrelia burgdorferi / Q000235:genetics; D002874:Chromosome Mapping; D004272:DNA, Mitochondrial / Q000235:genetics; D020022:Genetic Predisposition to Disease; D015894:Genome, Human; D054629:Genome, Mitochondrial; D049690:History, Ancient; D006801:Humans; D008193:Lyme Disease / Q000266:history; D008928:Mitochondria / Q000235:genetics; D009106:Mummies / Q000382:microbiology; D010163:Paleontology; D010641:Phenotype; D017422:Sequence Analysis, DNA; D061205:Vascular Calcification
chemical_list: D004272:DNA, Mitochondrial