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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.

Balanovsky O, Zhabagin M, Agdzhoyan A, Chukhryaeva M, Zaporozhchenko V, Utevska O, Highnam G, Sabitov Z, Greenspan E, Dibirova K, Skhalyakho R, Kuznetsova M, Koshel S, Yusupov Y, Nymadawa P, Zhumadilov Z, Pocheshkhova E, Haber M, A Zalloua P, Yepiskoposyan L, Dybo A, Tyler-Smith C, Balanovska E - PLoS ONE (2015)

Bottom Line: 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 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.

View Article: PubMed Central - PubMed

Affiliation: Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia; Research Centre for Medical Genetics, Russian Academy of Sciences, Moscow, Russia.

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.

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Ancient migrations of Iranic-speaking populations.A) Area populated by Iranic speakers in the middle of the first millennium BC. States whose languages belonged to the Iranic and Armenian linguistic groups are shown in red (modified from [39]). B) Homeland and migration of Iranic speakers according to the major competing theories (modified from [34]).
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pone.0122968.g001: Ancient migrations of Iranic-speaking populations.A) Area populated by Iranic speakers in the middle of the first millennium BC. States whose languages belonged to the Iranic and Armenian linguistic groups are shown in red (modified from [39]). B) Homeland and migration of Iranic speakers according to the major competing theories (modified from [34]).

Mentions: Despite multiple studies of the phylogeography of individual Y-chromosomal haplogroups, haplogroup G1-M285 has not received attention so far. This is partly explained by its relatively low frequency in its main area of distribution in South-West Asia [10,42], and partly by its uneven geographic distribution with a maximum frequency in the Madjar population in Kazakhstan [5]. For this reason, study of the phylogeography of haplogroup G [44] dealt mainly with the G2 sub-branch, and the only statement about G1 is an estimate of its age from Y-STR markers (19,000 ± 6,000 years). However, newly accumulated data indicate that G1 is present over a wider area in the Eurasian steppe than in Madjars only [10], and it also reaches very high frequencies in geographically distant populations of the Armenian plateau (Table 1). Thus, haplogroup G1 might mark an ancient genetic link between Iranic speakers of South-West Asia and populations of the Central Asian steppes where Iranian speech predominated in the second and first millennia BC (Fig 1A). However, the place of origin of this haplogroup remains unclear, and it is unknown whether South-West Asians and Madjars have the same or different subbranches of haplogroup G1, what the age of the branch(es) are, and which ancient migrations contributed to the contemporary distribution and diversity of this haplogroup.


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.

Balanovsky O, Zhabagin M, Agdzhoyan A, Chukhryaeva M, Zaporozhchenko V, Utevska O, Highnam G, Sabitov Z, Greenspan E, Dibirova K, Skhalyakho R, Kuznetsova M, Koshel S, Yusupov Y, Nymadawa P, Zhumadilov Z, Pocheshkhova E, Haber M, A Zalloua P, Yepiskoposyan L, Dybo A, Tyler-Smith C, Balanovska E - PLoS ONE (2015)

Ancient migrations of Iranic-speaking populations.A) Area populated by Iranic speakers in the middle of the first millennium BC. States whose languages belonged to the Iranic and Armenian linguistic groups are shown in red (modified from [39]). B) Homeland and migration of Iranic speakers according to the major competing theories (modified from [34]).
© Copyright Policy
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4388827&req=5

pone.0122968.g001: Ancient migrations of Iranic-speaking populations.A) Area populated by Iranic speakers in the middle of the first millennium BC. States whose languages belonged to the Iranic and Armenian linguistic groups are shown in red (modified from [39]). B) Homeland and migration of Iranic speakers according to the major competing theories (modified from [34]).
Mentions: Despite multiple studies of the phylogeography of individual Y-chromosomal haplogroups, haplogroup G1-M285 has not received attention so far. This is partly explained by its relatively low frequency in its main area of distribution in South-West Asia [10,42], and partly by its uneven geographic distribution with a maximum frequency in the Madjar population in Kazakhstan [5]. For this reason, study of the phylogeography of haplogroup G [44] dealt mainly with the G2 sub-branch, and the only statement about G1 is an estimate of its age from Y-STR markers (19,000 ± 6,000 years). However, newly accumulated data indicate that G1 is present over a wider area in the Eurasian steppe than in Madjars only [10], and it also reaches very high frequencies in geographically distant populations of the Armenian plateau (Table 1). Thus, haplogroup G1 might mark an ancient genetic link between Iranic speakers of South-West Asia and populations of the Central Asian steppes where Iranian speech predominated in the second and first millennia BC (Fig 1A). However, the place of origin of this haplogroup remains unclear, and it is unknown whether South-West Asians and Madjars have the same or different subbranches of haplogroup G1, what the age of the branch(es) are, and which ancient migrations contributed to the contemporary distribution and diversity of this haplogroup.

Bottom Line: 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 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.

View Article: PubMed Central - PubMed

Affiliation: Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia; Research Centre for Medical Genetics, Russian Academy of Sciences, Moscow, Russia.

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.

Show MeSH
Related in: MedlinePlus