title: Large-scale recent expansion of European patrilineages shown by population resequencing.
abstract: The proportion of Europeans descending from Neolithic farmers ∼ 10 thousand years ago (KYA) or Palaeolithic hunter-gatherers has been much debated. The male-specific region of the Y chromosome (MSY) has been widely applied to this question, but unbiased estimates of diversity and time depth have been lacking. Here we show that European patrilineages underwent a recent continent-wide expansion. Resequencing of 3.7 Mb of MSY DNA in 334 males, comprising 17 European and Middle Eastern populations, defines a phylogeny containing 5,996 single-nucleotide polymorphisms. Dating indicates that three major lineages (I1, R1a and R1b), accounting for 64% of our sample, have very recent coalescent times, ranging between 3.5 and 7.3 KYA. A continuous swathe of 13/17 populations share similar histories featuring a demographic expansion starting ∼ 2.1-4.2 KYA. Our results are compatible with ancient MSY DNA data, and contrast with data on mitochondrial DNA, indicating a widespread male-specific phenomenon that focuses interest on the social structure of Bronze Age Europe.
authors.affiliation: Department of Genetics, University of Leicester, University Road, Leicester LE1 7RH, UK.
authors.forename: Chiara
authors.initials: C
authors.lastname: Batini
authors.affiliation: Department of Genetics, University of Leicester, University Road, Leicester LE1 7RH, UK.
authors.forename: Pille
authors.initials: P
authors.lastname: Hallast
authors.affiliation: Department of Genetics, University of Leicester, University Road, Leicester LE1 7RH, UK.
authors.forename: Daniel
authors.initials: D
authors.lastname: Zadik
authors.affiliation: Department of Genetics, University of Leicester, University Road, Leicester LE1 7RH, UK.
authors.forename: Pierpaolo Maisano
authors.initials: PM
authors.lastname: Delser
authors.affiliation: Department of Life Sciences and Biotechnology, University of Ferrara, Via Borsari 46, 44121 Ferrara, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Benazzo
authors.affiliation: Department of Life Sciences and Biotechnology, University of Ferrara, Via Borsari 46, 44121 Ferrara, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Ghirotto
authors.affiliation: Laboratory of Forensic and Population Genetics, Department of Toxicology and Health Legislation, Faculty of Medicine, Complutense University, E-28040 Madrid, Spain.
authors.forename: Eduardo
authors.initials: E
authors.lastname: Arroyo-Pardo
authors.affiliation: Molecular and Cellular Therapeutics, The Royal College of Surgeons in Ireland, 123 St Stephen's Green, Dublin 2, Ireland.
authors.forename: Gianpiero L
authors.initials: GL
authors.lastname: Cavalleri
authors.affiliation: Department of Human Genetics, Leiden University Medical Centre, 2300 RC Leiden, The Netherlands.
authors.forename: Peter
authors.initials: P
authors.lastname: de Knijff
authors.affiliation: Norwegian Institute of Public Health, Division of Forensic Sciences, N-0027 Oslo, Norway.
authors.forename: Berit Myhre
authors.initials: BM
authors.lastname: Dupuy
authors.affiliation: Centre of Arctic Medicine, Thule Institute, University of Oulu, PO Box 7300, 90014 Oulu, Finland.|Utsjoki Health Care Centre, 99980 Utsjoki, Finland.
authors.forename: Heidi A
authors.initials: HA
authors.lastname: Eriksen
authors.affiliation: Department of Genetics, University of Leicester, University Road, Leicester LE1 7RH, UK.
authors.forename: Turi E
authors.initials: TE
authors.lastname: King
authors.affiliation: Department of Neurosciences, University of the Basque Country, San Sebastián 20014, Spain.
authors.forename: Adolfo López
authors.initials: AL
authors.lastname: de Munain
authors.affiliation: Laboratory of Forensic and Population Genetics, Department of Toxicology and Health Legislation, Faculty of Medicine, Complutense University, E-28040 Madrid, Spain.
authors.forename: Ana M
authors.initials: AM
authors.lastname: López-Parra
authors.affiliation: Committee for Thalassemia of the Central Council of Health, Ministry of Health, 8 Merlin, Athens 106 71, Greece.
authors.forename: Aphrodite
authors.initials: A
authors.lastname: Loutradis
authors.affiliation: Institute of Human Genetics, School of Dental Medicine, University of Belgrade, 11000 Belgrade, Serbia.
authors.forename: Jelena
authors.initials: J
authors.lastname: Milasin
authors.affiliation: Department of Biology, Tor Vergata University, Via della Ricerca Scientifica, 00133 Rome, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Novelletto
authors.affiliation: Network of Forensic Science Institutes, Institute of Forensic Medicine, , PO Box 31, 1363 Budapest, Hungary.
authors.forename: Horolma
authors.initials: H
authors.lastname: Pamjav
authors.affiliation: Department of Forensic Medicine, Hjelt Institute, University of Helsinki, PO Box 40, Helsinki FI-00014, Finland.|Institute of Applied Genetics, Department of Molecular and Medical Genetics, University of North Texas Health Science Center, 3500 Camp Bowie Boulevard, Fort Worth, Texas 76107, USA.
authors.forename: Antti
authors.initials: A
authors.lastname: Sajantila
authors.affiliation: Department of Molecular Biology and Genetics, Boğaziçi University, Bebek, 34342 Istanbul, Turkey.
authors.forename: Aslıhan
authors.initials: A
authors.lastname: Tolun
authors.affiliation: Department of Oncology, University of Oxford, Roosevelt Drive Oxford, Oxford OX3 7DQ, UK.
authors.forename: Bruce
authors.initials: B
authors.lastname: Winney
authors.affiliation: Department of Genetics, University of Leicester, University Road, Leicester LE1 7RH, UK.
authors.forename: Mark A
authors.initials: MA
authors.lastname: Jobling
mesh_terms: D001499:Bayes Theorem; D005075:Biological Evolution; D003198:Computer Simulation; D004272:DNA, Mitochondrial / Q000235:genetics; D003710:Demography; D004641:Emigration and Immigration; D005006:Ethnicity / Q000235:genetics; D005060:Europe; D014644:Genetic Variation; D005828:Genetics, Population; D023281:Genomics; D005843:Geography; D006239:Haplotypes; D049690:History, Ancient; D006801:Humans; D008297:Male; D008877:Middle East; D009154:Mutation; D010802:Phylogeny; D011157:Population Dynamics; D017422:Sequence Analysis, DNA; D044465:White People / Q000235:genetics
chemical_list: D004272:DNA, Mitochondrial