Russian Journal of Genetics

, Volume 41, Issue 3, pp 301–305 | Cite as

The role of nucleotide context in the induction of mutations in human mitochondrial DNA genes

  • B. A. Malyarchuk
Human Genetics


Based on the mutations distribution patterns in the mitochondrial DNA (mtDNA) genes, context analysis of the regions, including mutable positions characterized by the appearance of more than two parallel mutations, was performed. It was demonstrated that the mechanism of dislocation mutagenesis, leading to the appearance of mismatches within the frameshift regions of either primer or template mtDNA chains during replication, accounts for the induction of 21% of unstable positions in the mtDNA genes. Context analysis showed that pyrimidine bases in the positions +1 and +2 (gYRNS, gYY, and gR consensuses, where g is mutable position) had the highest influence on the induction of mutations in G positions of the mtDNA genes. The highest effect on the mutagenesis in T positions was excreted by the bases in the positions −1 and +1 (RtY and tA consensuses, where t is mutable position). In general, these data point to the prevalence of the context-dependant mechanisms of the mutations induction in human mitochondrial genome.


Pyrimidine Mitochondrial Genome Mutation Induction Mutable Position Context Analysis 
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© MAIK “Nauka/Interperiodica” 2005

Authors and Affiliations

  • B. A. Malyarchuk
    • 1
  1. 1.Institute of the Biological Problems of the NorthRussian Academy of SciencesMagadanRussia

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