title: Population genomic analysis of ancient and modern genomes yields new insights into the genetic ancestry of the Tyrolean Iceman and the genetic structure of Europe.
abstract: Genome sequencing of the 5,300-year-old mummy of the Tyrolean Iceman, found in 1991 on a glacier near the border of Italy and Austria, has yielded new insights into his origin and relationship to modern European populations. A key finding of that study was an apparent recent common ancestry with individuals from Sardinia, based largely on the Y chromosome haplogroup and common autosomal SNP variation. Here, we compiled and analyzed genomic datasets from both modern and ancient Europeans, including genome sequence data from over 400 Sardinians and two ancient Thracians from Bulgaria, to investigate this result in greater detail and determine its implications for the genetic structure of Neolithic Europe. Using whole-genome sequencing data, we confirm that the Iceman is, indeed, most closely related to Sardinians. Furthermore, we show that this relationship extends to other individuals from cultural contexts associated with the spread of agriculture during the Neolithic transition, in contrast to individuals from a hunter-gatherer context. We hypothesize that this genetic affinity of ancient samples from different parts of Europe with Sardinians represents a common genetic component that was geographically widespread across Europe during the Neolithic, likely related to migrations and population expansions associated with the spread of agriculture.
authors.affiliation: Department of Genetics, Stanford University, Stanford, California, United States of America.
authors.forename: Martin
authors.initials: M
authors.lastname: Sikora
authors.affiliation: Department of Genetics, Stanford University, Stanford, California, United States of America.
authors.forename: Meredith L
authors.initials: ML
authors.lastname: Carpenter
authors.affiliation: Department of Genetics, Stanford University, Stanford, California, United States of America.
authors.forename: Andres
authors.initials: A
authors.lastname: Moreno-Estrada
authors.affiliation: Department of Genetics, Stanford University, Stanford, California, United States of America.
authors.forename: Brenna M
authors.initials: BM
authors.lastname: Henn
authors.affiliation: Department of Genetics, Stanford University, Stanford, California, United States of America.
authors.forename: Peter A
authors.initials: PA
authors.lastname: Underhill
authors.affiliation: Institute of Evolutionary Biology (CSIC-UPF), PRBB, Barcelona, Spain.
authors.forename: Federico
authors.initials: F
authors.lastname: Sánchez-Quinto
authors.affiliation: CRS4 (Centre for Advanced Studies, Research and Development in Sardinia), Pula, Italy.
authors.forename: Ilenia
authors.initials: I
authors.lastname: Zara
authors.affiliation: Istituto di Ricerca Genetica e Biomedica (IRGB), CNR, Monserrato, Italy.
authors.forename: Maristella
authors.initials: M
authors.lastname: Pitzalis
authors.affiliation: Istituto di Ricerca Genetica e Biomedica (IRGB), CNR, Monserrato, Italy; Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, United States of America; Università degli Studi di Sassari, Dip. Scienze Biomediche, Sassari, Italy.
authors.forename: Carlo
authors.initials: C
authors.lastname: Sidore
authors.affiliation: Istituto di Ricerca Genetica e Biomedica (IRGB), CNR, Monserrato, Italy; Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, United States of America.
authors.forename: Fabio
authors.initials: F
authors.lastname: Busonero
authors.affiliation: Istituto di Ricerca Genetica e Biomedica (IRGB), CNR, Monserrato, Italy; Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, United States of America.
authors.forename: Andrea
authors.initials: A
authors.lastname: Maschio
authors.affiliation: Istituto di Ricerca Genetica e Biomedica (IRGB), CNR, Monserrato, Italy; Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, United States of America.
authors.forename: Andrea
authors.initials: A
authors.lastname: Angius
authors.affiliation: CRS4 (Centre for Advanced Studies, Research and Development in Sardinia), Pula, Italy.
authors.forename: Chris
authors.initials: C
authors.lastname: Jones
authors.affiliation: Laboratorios de Investigación y Desarrollo, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima, Peru.
authors.forename: Javier
authors.initials: J
authors.lastname: Mendoza-Revilla
authors.affiliation: National Archaeological Institute with Museum, Sofia, Bulgaria.
authors.forename: Georgi
authors.initials: G
authors.lastname: Nekhrizov
authors.affiliation: National Archaeological Institute with Museum, Sofia, Bulgaria.
authors.forename: Diana
authors.initials: D
authors.lastname: Dimitrova
authors.affiliation: Sofia University St. Kliment Ohridski, Sofia, Bulgaria.
authors.forename: Nikola
authors.initials: N
authors.lastname: Theodossiev
authors.affiliation: Life Technologies, Beverly, Massachusetts, United States of America.
authors.forename: Timothy T
authors.initials: TT
authors.lastname: Harkins
authors.affiliation: University Hospital, Saarland University, Saarbrücken, Germany.
authors.forename: Andreas
authors.initials: A
authors.lastname: Keller
authors.affiliation: EURAC, Institute for mummies and the Iceman, Bolzano, Italy.
authors.forename: Frank
authors.initials: F
authors.lastname: Maixner
authors.affiliation: EURAC, Institute for mummies and the Iceman, Bolzano, Italy.
authors.forename: Albert
authors.initials: A
authors.lastname: Zink
authors.affiliation: Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, United States of America.
authors.forename: Goncalo
authors.initials: G
authors.lastname: Abecasis
authors.affiliation: Istituto di Ricerca Genetica e Biomedica (IRGB), CNR, Monserrato, Italy.
authors.forename: Serena
authors.initials: S
authors.lastname: Sanna
authors.affiliation: Istituto di Ricerca Genetica e Biomedica (IRGB), CNR, Monserrato, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Cucca
authors.affiliation: Department of Genetics, Stanford University, Stanford, California, United States of America.
authors.forename: Carlos D
authors.initials: CD
authors.lastname: Bustamante
mesh_terms: D005060:Europe; D005260:Female; D005580:Fossils; D005828:Genetics, Population; D015894:Genome, Human; D006801:Humans; D020641:Polymorphism, Single Nucleotide