title: Deep phylogenetic analysis of haplogroup G1 provides estimates of SNP and STR mutation rates on the human Y-chromosome and reveals migrations of Iranic speakers.
abstract: Y-chromosomal haplogroup G1 is a minor component of the overall gene pool of South-West and Central Asia but reaches up to 80% frequency in some populations scattered within this area. We have genotyped the G1-defining marker M285 in 27 Eurasian populations (n= 5,346), analyzed 367 M285-positive samples using 17 Y-STRs, and sequenced ~11 Mb of the Y-chromosome in 20 of these samples to an average coverage of 67X. This allowed detailed phylogenetic reconstruction. We identified five branches, all with high geographical specificity: G1-L1323 in Kazakhs, the closely related G1-GG1 in Mongols, G1-GG265 in Armenians and its distant brother clade G1-GG162 in Bashkirs, and G1-GG362 in West Indians. The haplotype diversity, which decreased from West Iran to Central Asia, allows us to hypothesize that this rare haplogroup could have been carried by the expansion of Iranic speakers northwards to the Eurasian steppe and via founder effects became a predominant genetic component of some populations, including the Argyn tribe of the Kazakhs. The remarkable agreement between genetic and genealogical trees of Argyns allowed us to calibrate the molecular clock using a historical date (1405 AD) of the most recent common genealogical ancestor. The mutation rate for Y-chromosomal sequence data obtained was 0.78×10-9 per bp per year, falling within the range of published rates. The mutation rate for Y-chromosomal STRs was 0.0022 per locus per generation, very close to the so-called genealogical rate. The "clan-based" approach to estimating the mutation rate provides a third, middle way between direct farther-to-son comparisons and using archeologically known migrations, whose dates are subject to revision and of uncertain relationship to genetic events.
authors: Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia; Research Centre for Medical Genetics, Russian Academy of Sciences, Moscow, Russia.
authors: Oleg
authors: O
authors: Balanovsky
authors: Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia; Center for Life Sciences, Nazarbayev University, Astana, Republic of Kazakhstan.
authors: Maxat
authors: M
authors: Zhabagin
authors: Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia.
authors: Anastasiya
authors: A
authors: Agdzhoyan
authors: Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia; Research Centre for Medical Genetics, Russian Academy of Sciences, Moscow, Russia.
authors: Marina
authors: M
authors: Chukhryaeva
authors: Research Centre for Medical Genetics, Russian Academy of Sciences, Moscow, Russia.
authors: Valery
authors: V
authors: Zaporozhchenko
authors: Department of Genetics and Citology, V. N. Karazin National University, Kharkiv, Ukraine.
authors: Olga
authors: O
authors: Utevska
authors: Gene by Gene, Ltd., Houston, Texas, United States of America.
authors: Gareth
authors: G
authors: Highnam
authors: Center for Life Sciences, Nazarbayev University, Astana, Republic of Kazakhstan; Gumilov Eurasian National University, Astana, Republic of Kazakhstan.
authors: Zhaxylyk
authors: Z
authors: Sabitov
authors: Gene by Gene, Ltd., Houston, Texas, United States of America.
authors: Elliott
authors: E
authors: Greenspan
authors: Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia; Research Centre for Medical Genetics, Russian Academy of Sciences, Moscow, Russia.
authors: Khadizhat
authors: K
authors: Dibirova
authors: Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia; Research Centre for Medical Genetics, Russian Academy of Sciences, Moscow, Russia.
authors: Roza
authors: R
authors: Skhalyakho
authors: Research Centre for Medical Genetics, Russian Academy of Sciences, Moscow, Russia.
authors: Marina
authors: M
authors: Kuznetsova
authors: Faculty of Geography, Lomonosov Moscow State University, Moscow, Russia.
authors: Sergey
authors: S
authors: Koshel
authors: Institute of Humanitarian Research of the Republic of Bashkortostan, Ufa, Russia.
authors: Yuldash
authors: Y
authors: Yusupov
authors: Mongolian Academy of Medical Sciences, Ulaanbaatar, Mongolia.
authors: Pagbajabyn
authors: P
authors: Nymadawa
authors: Center for Life Sciences, Nazarbayev University, Astana, Republic of Kazakhstan.
authors: Zhaxybay
authors: Z
authors: Zhumadilov
authors: Krasnodar State Medical University, Krasnodar, Russia.
authors: Elvira
authors: E
authors: Pocheshkhova
authors: The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, United Kingdom.
authors: Marc
authors: M
authors: Haber
authors: The Lebanese American University, Chouran, Beirut, Lebanon.
authors: Pierre A
authors: PA
authors: Zalloua
authors: Institute Molecular Biology, National Academy of Sciences of the Republic of Armenia, Yerevan, Armenia.
authors: Levon
authors: L
authors: Yepiskoposyan
authors: Institute of Linguistics, Russian Academy of Sciences, Moscow, Russia.
authors: Anna
authors: A
authors: Dybo
authors: The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, United Kingdom.
authors: Chris
authors: C
authors: Tyler-Smith
authors: Research Centre for Medical Genetics, Russian Academy of Sciences, Moscow, Russia.
authors: Elena
authors: E
authors: Balanovska
mesh_terms: D041322:Chromosomes, Human, Y / Q000235:genetics*; D005787:Gene Frequency; D006239:Haplotypes; D063426:Human Migration; D006801:Humans; D007492:Iran; D007802:Language; D018895:Microsatellite Repeats; D010802:Phylogeny; D020641:Polymorphism, Single Nucleotide