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Abstract <p>In this work, the origin of mtDNA lineages was analyzed in 30 individuals with the pathogenic m.1555A&gt;G variant of the <i>MT-RNR1</i> gene, associated with mitochondrial form of deafness (MT-RNR1, OMIM: 561 000) in Yakutia and Buryatia. It was revealed that the spectrum of mitochondrial lineages in these individuals is limited to six haplogroups (A5b, D5a2a, F1a1d, F1b1e1, J1c3, and H2c). In Buryatia, only East Eurasian haplogroups (A5b, D5a2a, and F1a1d) were identified in carriers of the m.1555A&gt;G variant, while in Yakutia, both East (F1b1e1) and West Eurasian (J1c3 and H2c) haplogroups were detected. A dominance of two different haplogroups was a characteristic feature of mitochondrial lineages carrying the m.1555A&gt;G variant in Eastern Siberia: F1b1e1 (78%) in Yakutia and A5b (90%) in Buryatia. At the same time, no mitochondrial lineages common to Buryatia and Yakutia were detected in individuals with m.1555A&gt;G. The F1b1e1 subclade is specific for Yakut populations and has not been identified in other regions. The coalescence time of the studied mitogenomes belonging to the haplogroup F1b1e1 and carrying the m.1555A&gt;G variant was approximately 500 ± 180 years. In this regard, a relatively recent origin of the m.1555A&gt;G variant in situ on the mitochondrial lineage F1b1e1 specific to Yakutia ~500 years ago seems most likely. In contrast, in Buryatia, the m.1555A&gt;G variant was detected on the lineages belonging to East-Asian haplogroup A5b, which had not been previously registered in the territory of Eastern Siberia. The coalescence time of the studied A5b-mitogenomes carrying the m.1555A&gt;G variant from almost identical mitochondrial lineage of Daur people without this mutation was approximately 770 ± 190 years. It is most likely that the center of accumulation of the m.1555A&gt;G variant was formed ∼800 years ago in situ in the territory adjacent to Lake Baikal on the maternal lineage of East-Asian origin, which was apparently introduced into this region during the heyday of the Mongol Empire.</p>

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Analysis of the Origin of mtDNA Lineages Carrying the Pathogenic m.1555A>G Variant in the MT-RNR1 Gene, Causing Mitochondrial Form of Deafness in Eastern Siberia

  • 期刊论文

  • 发表日期：

    2026年6月15日

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  • T. V. Borisova,
  • A. M. Cherdonova,
  • V. G. Pshennikova,
  • F. M. Teryutin,
  • I. V. Morozov,
  • A. A. Bondar,
  • O. A. Baturina,
  • M. R. Kabilov,
  • G. P. Romanov,
  • A. V. Solovyev,
  • S. A. Fedorova,
  • N. A. Barashkov

摘要

Abstract

In this work, the origin of mtDNA lineages was analyzed in 30 individuals with the pathogenic m.1555A>G variant of the MT-RNR1 gene, associated with mitochondrial form of deafness (MT-RNR1, OMIM: 561 000) in Yakutia and Buryatia. It was revealed that the spectrum of mitochondrial lineages in these individuals is limited to six haplogroups (A5b, D5a2a, F1a1d, F1b1e1, J1c3, and H2c). In Buryatia, only East Eurasian haplogroups (A5b, D5a2a, and F1a1d) were identified in carriers of the m.1555A>G variant, while in Yakutia, both East (F1b1e1) and West Eurasian (J1c3 and H2c) haplogroups were detected. A dominance of two different haplogroups was a characteristic feature of mitochondrial lineages carrying the m.1555A>G variant in Eastern Siberia: F1b1e1 (78%) in Yakutia and A5b (90%) in Buryatia. At the same time, no mitochondrial lineages common to Buryatia and Yakutia were detected in individuals with m.1555A>G. The F1b1e1 subclade is specific for Yakut populations and has not been identified in other regions. The coalescence time of the studied mitogenomes belonging to the haplogroup F1b1e1 and carrying the m.1555A>G variant was approximately 500 ± 180 years. In this regard, a relatively recent origin of the m.1555A>G variant in situ on the mitochondrial lineage F1b1e1 specific to Yakutia ~500 years ago seems most likely. In contrast, in Buryatia, the m.1555A>G variant was detected on the lineages belonging to East-Asian haplogroup A5b, which had not been previously registered in the territory of Eastern Siberia. The coalescence time of the studied A5b-mitogenomes carrying the m.1555A>G variant from almost identical mitochondrial lineage of Daur people without this mutation was approximately 770 ± 190 years. It is most likely that the center of accumulation of the m.1555A>G variant was formed ∼800 years ago in situ in the territory adjacent to Lake Baikal on the maternal lineage of East-Asian origin, which was apparently introduced into this region during the heyday of the Mongol Empire.