Human Y Chromosome Haplogroup N: A Non-trivial Time-Resolved Phylogeography that Cuts across Language Families

Anne-Mai Ilumäe; Maere Reidla; Marina Chukhryaeva; Mari Järve; Helen Post; Monika Karmin; Lauri Saag; Anastasiya Agdzhoyan; Alena Kushniarevich; Sergey Litvinov; Natalya Ekomasova; Kristiina Tambets; Ene Metspalu; Rita Khusainova; Bayazit Yunusbayev; Elza K Khusnutdinova; Ludmila P Osipova; Sardana Fedorova; Olga Utevska; Sergey Koshel; Elena Balanovska; Doron M Behar; Oleg Balanovsky; Toomas Kivisild; Peter A Underhill; Richard Villems; Siiri Rootsi

doi:10.1016/j.ajhg.2016.05.025

Human Y Chromosome Haplogroup N: A Non-trivial Time-Resolved Phylogeography that Cuts across Language Families

Am J Hum Genet. 2016 Jul 7;99(1):163-73. doi: 10.1016/j.ajhg.2016.05.025.

Authors

Anne-Mai Ilumäe¹, Maere Reidla¹, Marina Chukhryaeva², Mari Järve¹, Helen Post¹, Monika Karmin¹, Lauri Saag¹, Anastasiya Agdzhoyan³, Alena Kushniarevich⁴, Sergey Litvinov⁵, Natalya Ekomasova⁶, Kristiina Tambets¹, Ene Metspalu¹, Rita Khusainova⁷, Bayazit Yunusbayev¹, Elza K Khusnutdinova⁸, Ludmila P Osipova⁹, Sardana Fedorova¹⁰, Olga Utevska¹¹, Sergey Koshel¹², Elena Balanovska¹³, Doron M Behar¹, Oleg Balanovsky², Toomas Kivisild¹⁴, Peter A Underhill¹⁵, Richard Villems¹⁶, Siiri Rootsi¹⁷

Affiliations

¹ Estonian Biocentre and Department of Evolutionary Biology, University of Tartu, Tartu 51010, Estonia.
² Vavilov Institute of General Genetics, Moscow 119991, Russia; Research Centre for Medical Genetics, Moscow 115478, Russia.
³ Vavilov Institute of General Genetics, Moscow 119991, Russia.
⁴ 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.
⁵ 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.
⁶ Department of Genetics and Fundamental Medicine, Bashkir State University, Ufa 450074, Russia.
⁷ Institute of Biochemistry and Genetics, Ufa Scientific Center, Russian Academy of Sciences, Ufa 450054, Russia.
⁸ 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.
⁹ Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk 630090, Russia; Novosibirsk State University, Novosibirsk 630090, Russia.
¹⁰ North-Eastern Federal University and Yakut Research Center of Complex Medical Problems, Yakutsk 677010, Sakha Republic, Russia.
¹¹ V.N. Karazin Kharkiv National University, Kharkiv 61022, Ukraine.
¹² Faculty of Geography, Lomonosov Moscow State University, Moscow 119991, Russia.
¹³ Research Centre for Medical Genetics, Moscow 115478, Russia.
¹⁴ Estonian Biocentre and Department of Evolutionary Biology, University of Tartu, Tartu 51010, Estonia; University of Cambridge, CB2 3QG Cambridge, UK.
¹⁵ Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
¹⁶ Estonian Biocentre and Department of Evolutionary Biology, University of Tartu, Tartu 51010, Estonia; Estonian Academy of Sciences, Tallinn 10130, Estonia.
¹⁷ Estonian Biocentre and Department of Evolutionary Biology, University of Tartu, Tartu 51010, Estonia. Electronic address: sroots@ebc.ee.

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Asia
Chromosomes, Human, Y / genetics*
Europe
Haplotypes / genetics*
Humans
Language*
Phylogeography
Time Factors