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Genomics. 1994 Jul 15;22(2):327-35.

Strand asymmetry in human mitochondrial DNA mutations.

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Department of Biomedical Chemistry, Faculty of Medicine, University of Nagoya, Japan.


Replication of mitochondrial DNA is highly asymmetric between the heavy (H) and the light (L) strands. The parental H strand is displaced by the daughter H strand and remains in a single-stranded state until the daughter L strand is synthesized. To examine the effect of this asymmetric replication on mutagenesis, we determined sequences of mtDNAs from 43 human individuals. Occurrence of nucleotide substitutions at 4-fold degenerate sites was distinctly asymmetric between the two strands: G-->A and T-->C transitions were 9- and 1.8-fold more frequent on the L strand than on the H strand, respectively. This nucleotide substitution bias is consistent with the T and G abundance of the H strand as well as the A and C abundance of the L strand.

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