The Effect of the Nucleotide Context on Induction of Mutations in Hypervariable Segment 1 of Human Mitochondrial DNA |
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Authors: | Malyarchuk B A |
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Institution: | (1) Institute of the Biological Problems of the North, Far East Division, Russian Academy of Sciences, Magadan, 685000, Russia |
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Abstract: | The distribution of unstable nucleotide positions with a higher frequency of homoplastic mutations was analyzed in hypervariable segment 1 (HVS1) of the major noncoding region of human mtDNA. Three motifs (GTAC, ACCC, CCTC) proved to be associated with a higher rate of point substitutions at unstable positions. The motifs were often arranged in direct, including tandem, repeats. Motifs CCTC and ACCC were found in extended poly(C) tracts, which form direct repeats associated with deletions and tandem duplications. The results suggested that the inconstancy of the human mitochondrial genome is to a great extent determined by context-dependent mutations. |
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Keywords: | human mitochondrial DNA major noncoding region hypervariable nucleotide motifs mechanisms of mutagenesis |
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