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人类线粒体DNA突变中的链不对称性。

Strand asymmetry in human mitochondrial DNA mutations.

作者信息

Tanaka M, Ozawa T

机构信息

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

出版信息

Genomics. 1994 Jul 15;22(2):327-35. doi: 10.1006/geno.1994.1391.

DOI:10.1006/geno.1994.1391
PMID:7806218
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.

摘要

线粒体DNA在重链(H)和轻链(L)之间的复制高度不对称。亲代H链被子代H链取代并保持单链状态,直到子代L链合成。为了研究这种不对称复制对诱变的影响,我们测定了43个个体的线粒体DNA序列。在4倍简并位点上核苷酸替换的发生在两条链之间明显不对称:L链上G→A和T→C转换的频率分别比H链高9倍和1.8倍。这种核苷酸替换偏向与H链的T和G丰度以及L链的A和C丰度一致。

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