Elsevier

Genomics

Volume 22, Issue 2, 15 July 1994, Pages 327-335
Genomics

Regular Article
Strand Asymmetry in Human Mitochondrial DNA Mutations

https://doi.org/10.1006/geno.1994.1391Get rights and content

Abstract

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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