The effect of the nucleotide context on induction of mutations in hypervariable segment 1 of the human mitochondrial DNA
Maliarchuk, B.A.
Molekuliarnaia Biologiia 36(3): 418-423
2002
ISSN/ISBN: 0026-8984 PMID: 12068625 Document Number: 542946
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.