U5a1 Mitochondrial DNA Haplotype Identified in Eneolithic Skeleton from Shatar Chuluu, Mongolia

Abstract

The mitochondrial haplotype U5a1 was identified from an Eneolithic grave associated with the Afanasievo archaeological culture in Bayankhongor Province, Erdenetsogt Township, at the site of Shatar Chuluu. This is the earliest appearance of a mtDNA haplotype associated with modern European populations on the Mongol Steppe. This evidence demonstrations that people with "western" mtDNA lived on the Mongol Steppe east of the Altai Mountains before the Bronze Age and refutes the notion that the Altai Mountains were a substantial barrier to gene flow and definitively expands the acknowledged range of the Afanasievo archaeological culture.

Mitochondrial DNA Footprints from Western Eurasia in Modern Mongolia

“…The presence of a U5a1 mitochondrial haplotype in an Eneolithic grave, dated at ca. 3000 BCE and associated with the Afanasievo archaeological culture in the Khangai Mountains, attested the presence of people with “western” origin in the east of the Altai Mountains before the Bronze Age ( Rogers et al, 2020 ), in contrast to what was previously proposed ( Ricaut et al, 2004a ; Ricaut et al, 2004b ; Lalueza-Fox et al, 2004 ; Chikisheva et al, 2007 ; Keyser et al, 2009 ; González-Ruiz et al, 2012 ; Wang C. C. et al, 2021 ). To further investigate the impact and legacy of mitochondrial lineages with eastern and western origins on the gene pool of modern Mongolian populations, we analyzed the mtDNA profiles of 2,420 individuals with a last known terminal maternal ancestor (TMA) from one of the 20 different Mongolian provinces.…”

“…In particular, macro-haplogroup R0 (mostly made of H mtDNAs, 36.1%) characterizes the outlier position of people living in the Bayan-Ölgii province, which encompasses the Altai Mountains. The Altai Mountains have initially been considered a genetic barrier to gene flows from the west until the recent discovery of ancient people with a WEu mtDNA living on the Mongol Steppe east of the Altai Mountains before the Bronze Age ( Rogers et al, 2020 ). Different EAs lineages distinguish the southern regions, while the northeastern provinces (Dornod, Khentii, Khövsgöl and Sükhbaatar) cluster together, separately from the others, and are characterized by a high number of different mitogenomes that arrived mostly from the surrounding eastern Asian countries.…”

Mitochondrial DNA Footprints from Western Eurasia in Modern Mongolia

“…The presence of a U5a1 mitochondrial haplotype in an Eneolithic grave, dated at ca. 3000 BCE and associated with the Afanasievo archaeological culture in the Khangai Mountains, attested the presence of people with “western” origin in the east of the Altai Mountains before the Bronze Age ( Rogers et al, 2020 ), in contrast to what was previously proposed ( Ricaut et al, 2004a ; Ricaut et al, 2004b ; Lalueza-Fox et al, 2004 ; Chikisheva et al, 2007 ; Keyser et al, 2009 ; González-Ruiz et al, 2012 ; Wang C. C. et al, 2021 ). To further investigate the impact and legacy of mitochondrial lineages with eastern and western origins on the gene pool of modern Mongolian populations, we analyzed the mtDNA profiles of 2,420 individuals with a last known terminal maternal ancestor (TMA) from one of the 20 different Mongolian provinces.…”

“…In particular, macro-haplogroup R0 (mostly made of H mtDNAs, 36.1%) characterizes the outlier position of people living in the Bayan-Ölgii province, which encompasses the Altai Mountains. The Altai Mountains have initially been considered a genetic barrier to gene flows from the west until the recent discovery of ancient people with a WEu mtDNA living on the Mongol Steppe east of the Altai Mountains before the Bronze Age ( Rogers et al, 2020 ). Different EAs lineages distinguish the southern regions, while the northeastern provinces (Dornod, Khentii, Khövsgöl and Sükhbaatar) cluster together, separately from the others, and are characterized by a high number of different mitogenomes that arrived mostly from the surrounding eastern Asian countries.…”

A Dynamic 6,000-Year Genetic History of Eurasia’s Eastern Steppe

“…Pastoralism in Mongolia is often assumed to have been introduced by the eastward expansion of Western Steppe cultures (e.g., Afanasievo) via either the Upper Yenisei and Sayan mountain region to the northwest of Mongolia or through the Altai mountains in the west (Janz et al, 2017). Although the majority of Afanasievo burials reported to date are located in the Altai mountains and Upper Yenisei regions, the Early Bronze Age (EBA) site of Shatar Chuluu in the southern Khangai Mountains of central Mongolia has yielded Afanasievo-style graves with proteomic evidence of ruminant milk consumption (Wilkin et al, 2020a) and a western Eurasian mitochondrial haplogroup (Rogers et al, 2020). Analyzing two of these individuals (Afana-sievo_Mongolia, 3112-2917 cal.…”

Analysis of mitochondrialDNAhaplogroup frequencies in the population of the slab burial mortuary culture of Mongolia (ca. 1100–300 BCE)

“…The earliest evidence of these western lineages in the region is with the arrival of people associated with the appearance of the Afanasievo archaeological culture (ca. 3100-2500 BCE), who introduced pastoralism and copper metallurgy to the region (Honeychurch, 2017;Rogers et al, 2019) haplotypes on the Mongol Steppe was substantial by at least the middle of the second millennium BCE. The frequencies of mtDNA haplogroups (hg) of these burial populations support the proposal that this intermixed east-west population represented in the slab burials were the primary contributors to the succeeding population of the Xiongnu period.…”

“…The earliest evidence of these western lineages in the region is with the arrival of people associated with the appearance of the Afanasievo archaeological culture (ca. 3100–2500 BCE), who introduced pastoralism and copper metallurgy to the region (Honeychurch, 2017; Rogers et al, 2019). The large western component in the mtDNA gene pool of the slab burial population and its affinities to contemporaneous west Eurasian steppe populations suggest that the number of people with western Eurasian mtDNA haplotypes on the Mongol Steppe was substantial by at least the middle of the second millennium BCE.…”

Mitochondrial DNA Footprints from Western Eurasia in Modern Mongolia

“…The presence of a U5a1 mitochondrial haplotype in an Eneolithic grave, dated at ca. 3000 BCE and associated with the Afanasievo archaeological culture in the Khangai Mountains, attested the presence of people with “western” origin in the east of the Altai Mountains before the Bronze Age ( Rogers et al, 2020 ), in contrast to what was previously proposed ( Ricaut et al, 2004a ; Ricaut et al, 2004b ; Lalueza-Fox et al, 2004 ; Chikisheva et al, 2007 ; Keyser et al, 2009 ; González-Ruiz et al, 2012 ; Wang C. C. et al, 2021 ). To further investigate the impact and legacy of mitochondrial lineages with eastern and western origins on the gene pool of modern Mongolian populations, we analyzed the mtDNA profiles of 2,420 individuals with a last known terminal maternal ancestor (TMA) from one of the 20 different Mongolian provinces.…”

“…In particular, macro-haplogroup R0 (mostly made of H mtDNAs, 36.1%) characterizes the outlier position of people living in the Bayan-Ölgii province, which encompasses the Altai Mountains. The Altai Mountains have initially been considered a genetic barrier to gene flows from the west until the recent discovery of ancient people with a WEu mtDNA living on the Mongol Steppe east of the Altai Mountains before the Bronze Age ( Rogers et al, 2020 ). Different EAs lineages distinguish the southern regions, while the northeastern provinces (Dornod, Khentii, Khövsgöl and Sükhbaatar) cluster together, separately from the others, and are characterized by a high number of different mitogenomes that arrived mostly from the surrounding eastern Asian countries.…”

A Dynamic 6,000-Year Genetic History of Eurasia’s Eastern Steppe

“…Pastoralism in Mongolia is often assumed to have been introduced by the eastward expansion of Western Steppe cultures (e.g., Afanasievo) via either the Upper Yenisei and Sayan mountain region to the northwest of Mongolia or through the Altai mountains in the west (Janz et al, 2017). Although the majority of Afanasievo burials reported to date are located in the Altai mountains and Upper Yenisei regions, the Early Bronze Age (EBA) site of Shatar Chuluu in the southern Khangai Mountains of central Mongolia has yielded Afanasievo-style graves with proteomic evidence of ruminant milk consumption (Wilkin et al, 2020a) and a western Eurasian mitochondrial haplogroup (Rogers et al, 2020). Analyzing two of these individuals (Afana-sievo_Mongolia, 3112-2917 cal.…”

Analysis of mitochondrialDNAhaplogroup frequencies in the population of the slab burial mortuary culture of Mongolia (ca. 1100–300 BCE)

“…The earliest evidence of these western lineages in the region is with the arrival of people associated with the appearance of the Afanasievo archaeological culture (ca. 3100-2500 BCE), who introduced pastoralism and copper metallurgy to the region (Honeychurch, 2017;Rogers et al, 2019) haplotypes on the Mongol Steppe was substantial by at least the middle of the second millennium BCE. The frequencies of mtDNA haplogroups (hg) of these burial populations support the proposal that this intermixed east-west population represented in the slab burials were the primary contributors to the succeeding population of the Xiongnu period.…”

“…The earliest evidence of these western lineages in the region is with the arrival of people associated with the appearance of the Afanasievo archaeological culture (ca. 3100–2500 BCE), who introduced pastoralism and copper metallurgy to the region (Honeychurch, 2017; Rogers et al, 2019). The large western component in the mtDNA gene pool of the slab burial population and its affinities to contemporaneous west Eurasian steppe populations suggest that the number of people with western Eurasian mtDNA haplotypes on the Mongol Steppe was substantial by at least the middle of the second millennium BCE.…”

Mitochondrial DNA Footprints from Western Eurasia in Modern Mongolia

“…The presence of a U5a1 mitochondrial haplotype in an Eneolithic grave, dated at ca. 3000 BCE and associated with the Afanasievo archaeological culture in the Khangai Mountains, attested the presence of people with “western” origin in the east of the Altai Mountains before the Bronze Age ( Rogers et al, 2020 ), in contrast to what was previously proposed ( Ricaut et al, 2004a ; Ricaut et al, 2004b ; Lalueza-Fox et al, 2004 ; Chikisheva et al, 2007 ; Keyser et al, 2009 ; González-Ruiz et al, 2012 ; Wang C. C. et al, 2021 ). To further investigate the impact and legacy of mitochondrial lineages with eastern and western origins on the gene pool of modern Mongolian populations, we analyzed the mtDNA profiles of 2,420 individuals with a last known terminal maternal ancestor (TMA) from one of the 20 different Mongolian provinces.…”

“…In particular, macro-haplogroup R0 (mostly made of H mtDNAs, 36.1%) characterizes the outlier position of people living in the Bayan-Ölgii province, which encompasses the Altai Mountains. The Altai Mountains have initially been considered a genetic barrier to gene flows from the west until the recent discovery of ancient people with a WEu mtDNA living on the Mongol Steppe east of the Altai Mountains before the Bronze Age ( Rogers et al, 2020 ). Different EAs lineages distinguish the southern regions, while the northeastern provinces (Dornod, Khentii, Khövsgöl and Sükhbaatar) cluster together, separately from the others, and are characterized by a high number of different mitogenomes that arrived mostly from the surrounding eastern Asian countries.…”

A Dynamic 6,000-Year Genetic History of Eurasia’s Eastern Steppe

“…Pastoralism in Mongolia is often assumed to have been introduced by the eastward expansion of Western Steppe cultures (e.g., Afanasievo) via either the Upper Yenisei and Sayan mountain region to the northwest of Mongolia or through the Altai mountains in the west (Janz et al, 2017). Although the majority of Afanasievo burials reported to date are located in the Altai mountains and Upper Yenisei regions, the Early Bronze Age (EBA) site of Shatar Chuluu in the southern Khangai Mountains of central Mongolia has yielded Afanasievo-style graves with proteomic evidence of ruminant milk consumption (Wilkin et al, 2020a) and a western Eurasian mitochondrial haplogroup (Rogers et al, 2020). Analyzing two of these individuals (Afana-sievo_Mongolia, 3112-2917 cal.…”

Analysis of mitochondrialDNAhaplogroup frequencies in the population of the slab burial mortuary culture of Mongolia (ca. 1100–300 BCE)

“…The earliest evidence of these western lineages in the region is with the arrival of people associated with the appearance of the Afanasievo archaeological culture (ca. 3100-2500 BCE), who introduced pastoralism and copper metallurgy to the region (Honeychurch, 2017;Rogers et al, 2019) haplotypes on the Mongol Steppe was substantial by at least the middle of the second millennium BCE. The frequencies of mtDNA haplogroups (hg) of these burial populations support the proposal that this intermixed east-west population represented in the slab burials were the primary contributors to the succeeding population of the Xiongnu period.…”

“…The earliest evidence of these western lineages in the region is with the arrival of people associated with the appearance of the Afanasievo archaeological culture (ca. 3100–2500 BCE), who introduced pastoralism and copper metallurgy to the region (Honeychurch, 2017; Rogers et al, 2019). The large western component in the mtDNA gene pool of the slab burial population and its affinities to contemporaneous west Eurasian steppe populations suggest that the number of people with western Eurasian mtDNA haplotypes on the Mongol Steppe was substantial by at least the middle of the second millennium BCE.…”