title: Human Y Chromosome Haplogroup N: A Non-trivial Time-Resolved Phylogeography that Cuts across Language Families.
abstract: The paternal haplogroup (hg) N is distributed from southeast Asia to eastern Europe. The demographic processes that have shaped the vast extent of this major Y chromosome lineage across numerous linguistically and autosomally divergent populations have previously been unresolved. On the basis of 94 high-coverage re-sequenced Y chromosomes, we establish and date a detailed hg N phylogeny. We evaluate geographic structure by using 16 distinguishing binary markers in 1,631 hg N Y chromosomes from a collection of 6,521 samples from 56 populations. The more southerly distributed sub-clade N4 emerged before N2a1 and N3, found mostly in the north, but the latter two display more elaborate branching patterns, indicative of regional contrasts in recent expansions. In particular, a number of prominent and well-defined clades with common N3a3'6 ancestry occur in regionally dissimilar northern Eurasian populations, indicating almost simultaneous regional diversification and expansion within the last 5,000 years. This patrilineal genetic affinity is decoupled from the associated higher degree of language diversity.
authors.affiliation: Estonian Biocentre and Department of Evolutionary Biology, University of Tartu, Tartu 51010, Estonia.
authors.forename: Anne-Mai
authors.initials: AM
authors.lastname: Ilumäe
authors.affiliation: Estonian Biocentre and Department of Evolutionary Biology, University of Tartu, Tartu 51010, Estonia.
authors.forename: Maere
authors.initials: M
authors.lastname: Reidla
authors.affiliation: Vavilov Institute of General Genetics, Moscow 119991, Russia; Research Centre for Medical Genetics, Moscow 115478, Russia.
authors.forename: Marina
authors.initials: M
authors.lastname: Chukhryaeva
authors.affiliation: Estonian Biocentre and Department of Evolutionary Biology, University of Tartu, Tartu 51010, Estonia.
authors.forename: Mari
authors.initials: M
authors.lastname: Järve
authors.affiliation: Estonian Biocentre and Department of Evolutionary Biology, University of Tartu, Tartu 51010, Estonia.
authors.forename: Helen
authors.initials: H
authors.lastname: Post
authors.affiliation: Estonian Biocentre and Department of Evolutionary Biology, University of Tartu, Tartu 51010, Estonia.
authors.forename: Monika
authors.initials: M
authors.lastname: Karmin
authors.affiliation: Estonian Biocentre and Department of Evolutionary Biology, University of Tartu, Tartu 51010, Estonia.
authors.forename: Lauri
authors.initials: L
authors.lastname: Saag
authors.affiliation: Vavilov Institute of General Genetics, Moscow 119991, Russia.
authors.forename: Anastasiya
authors.initials: A
authors.lastname: Agdzhoyan
authors.affiliation: Estonian Biocentre and Department of Evolutionary Biology, University of Tartu, Tartu 51010, Estonia; Institute of Genetics and Cytology of the National Academy of Sciences of Belarus, Minsk 220072, Republic of Belarus.
authors.forename: Alena
authors.initials: A
authors.lastname: Kushniarevich
authors.affiliation: Institute of Biochemistry and Genetics, Ufa Scientific Center, Russian Academy of Sciences, Ufa 450054, Russia; Estonian Biocentre and Department of Evolutionary Biology, University of Tartu, Tartu 51010, Estonia.
authors.forename: Sergey
authors.initials: S
authors.lastname: Litvinov
authors.affiliation: Department of Genetics and Fundamental Medicine, Bashkir State University, Ufa 450074, Russia.
authors.forename: Natalya
authors.initials: N
authors.lastname: Ekomasova
authors.affiliation: Estonian Biocentre and Department of Evolutionary Biology, University of Tartu, Tartu 51010, Estonia.
authors.forename: Kristiina
authors.initials: K
authors.lastname: Tambets
authors.affiliation: Estonian Biocentre and Department of Evolutionary Biology, University of Tartu, Tartu 51010, Estonia.
authors.forename: Ene
authors.initials: E
authors.lastname: Metspalu
authors.affiliation: Institute of Biochemistry and Genetics, Ufa Scientific Center, Russian Academy of Sciences, Ufa 450054, Russia.
authors.forename: Rita
authors.initials: R
authors.lastname: Khusainova
authors.affiliation: Estonian Biocentre and Department of Evolutionary Biology, University of Tartu, Tartu 51010, Estonia.
authors.forename: Bayazit
authors.initials: B
authors.lastname: Yunusbayev
authors.affiliation: Institute of Biochemistry and Genetics, Ufa Scientific Center, Russian Academy of Sciences, Ufa 450054, Russia; Department of Genetics and Fundamental Medicine, Bashkir State University, Ufa 450074, Russia.
authors.forename: Elza K
authors.initials: EK
authors.lastname: Khusnutdinova
authors.affiliation: Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk 630090, Russia; Novosibirsk State University, Novosibirsk 630090, Russia.
authors.forename: Ludmila P
authors.initials: LP
authors.lastname: Osipova
authors.affiliation: North-Eastern Federal University and Yakut Research Center of Complex Medical Problems, Yakutsk 677010, Sakha Republic, Russia.
authors.forename: Sardana
authors.initials: S
authors.lastname: Fedorova
authors.affiliation: V.N. Karazin Kharkiv National University, Kharkiv 61022, Ukraine.
authors.forename: Olga
authors.initials: O
authors.lastname: Utevska
authors.affiliation: Faculty of Geography, Lomonosov Moscow State University, Moscow 119991, Russia.
authors.forename: Sergey
authors.initials: S
authors.lastname: Koshel
authors.affiliation: Research Centre for Medical Genetics, Moscow 115478, Russia.
authors.forename: Elena
authors.initials: E
authors.lastname: Balanovska
authors.affiliation: Estonian Biocentre and Department of Evolutionary Biology, University of Tartu, Tartu 51010, Estonia.
authors.forename: Doron M
authors.initials: DM
authors.lastname: Behar
authors.affiliation: Vavilov Institute of General Genetics, Moscow 119991, Russia; Research Centre for Medical Genetics, Moscow 115478, Russia.
authors.forename: Oleg
authors.initials: O
authors.lastname: Balanovsky
authors.affiliation: Estonian Biocentre and Department of Evolutionary Biology, University of Tartu, Tartu 51010, Estonia; University of Cambridge, CB2 3QG Cambridge, UK.
authors.forename: Toomas
authors.initials: T
authors.lastname: Kivisild
authors.affiliation: Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
authors.forename: Peter A
authors.initials: PA
authors.lastname: Underhill
authors.affiliation: Estonian Biocentre and Department of Evolutionary Biology, University of Tartu, Tartu 51010, Estonia; Estonian Academy of Sciences, Tallinn 10130, Estonia.
authors.forename: Richard
authors.initials: R
authors.lastname: Villems
authors.affiliation: Estonian Biocentre and Department of Evolutionary Biology, University of Tartu, Tartu 51010, Estonia. Electronic address: sroots@ebc.ee.
authors.forename: Siiri
authors.initials: S
authors.lastname: Rootsi
mesh_terms: D001208:Asia; D041322:Chromosomes, Human, Y / Q000235:genetics*; D005060:Europe; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D007802:Language; D058974:Phylogeography; D013997:Time Factors